| 1 |
Moleküler |
HLA B51 (HLA Analizi/ HLA Analysis) |
HLA-B51 |
İncele |
| 2 |
Moleküler |
JAK2 EKZON 14 |
JAK 2 |
İncele |
| 3 |
Moleküler |
Bilinen Mutasyon (2 bölge) |
|
İncele |
| 4 |
Moleküler |
Achalasia-addisonianism-alacrimia syndrome |
AAAS |
İncele |
| 5 |
Moleküler |
{Macular degeneration, age-related, 2} |
ABCA4 |
İncele |
| 6 |
Moleküler |
Fundus flavimaculatus |
ABCA4 |
İncele |
| 7 |
Moleküler |
Retinal dystrophy, early-onset severe |
ABCA4 |
İncele |
| 8 |
Moleküler |
Stargardt disease 1 |
ABCA4 |
İncele |
| 9 |
Moleküler |
Retinitis pigmentosa 19 |
ABCA4 |
İncele |
| 10 |
Moleküler |
Cone-rod dystrophy 3 |
ABCA4 |
İncele |
| 11 |
Moleküler |
Cholestasis, progressive familial intrahepatic 2 |
ABCB11 |
İncele |
| 12 |
Moleküler |
Cholestasis, benign recurrent intrahepatic, 2 |
ABCB11 |
İncele |
| 13 |
Moleküler |
Gallbladder disease 1 |
ABCB11 |
İncele |
| 14 |
Moleküler |
Cholestasis, progressive familial intrahepatic 3 |
ABCB4 |
İncele |
| 15 |
Moleküler |
Cholestasis, intrahepatic, of pregnancy, 3 |
ABCB4 |
İncele |
| 16 |
Moleküler |
Dubin-Johnson syndrome |
ABCC2 |
İncele |
| 17 |
Moleküler |
Dubin-Johnson syndrome |
ABCC2 |
İncele |
| 18 |
Moleküler |
Diabetes mellitus, noninsulin-dependent |
ABCC8 |
İncele |
| 19 |
Moleküler |
Hypoglycemia of infancy, leucine-sensitive |
ABCC8 |
İncele |
| 20 |
Moleküler |
Hyperinsulinemic hypoglycemia, familial, 1 |
ABCC8 |
İncele |
| 21 |
Moleküler |
Diabetes mellitus, permanent neonatal |
ABCC8 |
İncele |
| 22 |
Moleküler |
Diabetes mellitus, transient neonatal 2 |
ABCC8 |
İncele |
| 23 |
Moleküler |
Adrenoleukodystrophy |
ABCD1 |
İncele |
| 24 |
Moleküler |
Adrenomyeloneuropathy, adult |
ABCD1 |
İncele |
| 25 |
Moleküler |
Chanarin-Dorfman syndrome |
ABHD5 |
İncele |
| 26 |
Moleküler |
Acyl-CoA dehydrogenase, medium chain, deficiency of |
ACADM |
İncele |
| 27 |
Moleküler |
VLCAD deficiency |
ACADVL |
İncele |
| 28 |
Moleküler |
Alpha-methylacetoacetic aciduria |
ACAT1 |
İncele |
| 29 |
Moleküler |
Renal tubular dysgenesis |
ACE |
İncele |
| 30 |
Moleküler |
{Microvascular complications of diabetes 3} |
ACE |
İncele |
| 31 |
Moleküler |
{Stroke, hemorrhagic} |
ACE |
İncele |
| 32 |
Moleküler |
[Angiotensin I-converting enzyme, benign serum increase] |
ACE |
İncele |
| 33 |
Moleküler |
{Myocardial infarction, susceptibility to} |
ACE |
İncele |
| 34 |
Moleküler |
{SARS, progression of} |
ACE |
İncele |
| 35 |
Moleküler |
Developmental and epileptic encephalopathy 76 |
ACTL6B |
İncele |
| 36 |
Moleküler |
Intellectual developmental disorder with severe speech and ambulation defects |
ACTL6B |
İncele |
| 37 |
Moleküler |
Telangiectasia, hereditary hemorrhagic, type 2 |
ACVRL1 |
İncele |
| 38 |
Moleküler |
Sneddon syndrome |
ADA2 |
İncele |
| 39 |
Moleküler |
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome |
ADA2 |
İncele |
| 40 |
Moleküler |
Osteoartrit, romatoid artrit |
ADAMTS12 |
İncele |
| 41 |
Moleküler |
Thrombotic thrombocytopenic purpura, familial |
ADAMTS13 |
İncele |
| 42 |
Moleküler |
Alpha-fetoprotein deficiency |
AFP |
İncele |
| 43 |
Moleküler |
[Hereditary persistence of alpha-fetoprotein] |
AFP |
İncele |
| 44 |
Moleküler |
Glycogen storage disease IIIa |
AGL |
İncele |
| 45 |
Moleküler |
Glycogen storage disease IIIb |
AGL |
İncele |
| 46 |
Moleküler |
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects |
AGRN |
İncele |
| 47 |
Moleküler |
Hyperoxaluria, primary, type 1 |
AGXT |
İncele |
| 48 |
Moleküler |
Pituitary adenoma 1, multiple types |
AIP |
İncele |
| 49 |
Moleküler |
Pituitary adenoma predisposition |
AIP |
İncele |
| 50 |
Moleküler |
Cone-rod dystrophy |
AIPL1 |
İncele |
| 51 |
Moleküler |
Leber congenital amaurosis 4 |
AIPL1 |
İncele |
| 52 |
Moleküler |
Retinitis pigmentosa, juvenile |
AIPL1 |
İncele |
| 53 |
Moleküler |
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia |
AIRE |
İncele |
| 54 |
Moleküler |
Breast cancer, somatic |
AKT1 |
İncele |
| 55 |
Moleküler |
Colorectal cancer, somatic |
AKT1 |
İncele |
| 56 |
Moleküler |
Ovarian cancer, somatic |
AKT1 |
İncele |
| 57 |
Moleküler |
Proteus syndrome, somatic |
AKT1 |
İncele |
| 58 |
Moleküler |
{Schizophrenia, susceptibility to} |
AKT1 |
İncele |
| 59 |
Moleküler |
Cowden syndrome 6 |
AKT1 |
İncele |
| 60 |
Moleküler |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
AKT3 |
İncele |
| 61 |
Moleküler |
Anemia, sideroblastic, 1 |
ALAS2 |
İncele |
| 62 |
Moleküler |
Protoporphyria, erythropoietic, X-linked |
ALAS2 |
İncele |
| 63 |
Moleküler |
Sjogren-Larsson syndrome |
ALDH3A2 |
İncele |
| 64 |
Moleküler |
Hyperprolinemia, type II |
ALDH4A1 |
İncele |
| 65 |
Moleküler |
Epilepsy, pyridoxine-dependent |
ALDH7A1 |
İncele |
| 66 |
Moleküler |
Fructose intolerance, hereditary |
ALDOB |
İncele |
| 67 |
Moleküler |
{Neuroblastoma, susceptibility to, 3} |
ALK |
İncele |
| 68 |
Moleküler |
Alstrom syndrome |
ALMS1 |
İncele |
| 69 |
Moleküler |
Hypophosphatasia, adult |
ALPL |
İncele |
| 70 |
Moleküler |
Odontohypophosphatasia |
ALPL |
İncele |
| 71 |
Moleküler |
Hypophosphatasia, infantile |
ALPL |
İncele |
| 72 |
Moleküler |
Hypophosphatasia, childhood |
ALPL |
İncele |
| 73 |
Moleküler |
Parietal foramina 2 |
ALX4 |
İncele |
| 74 |
Moleküler |
Frontonasal dysplasia 2 |
ALX4 |
İncele |
| 75 |
Moleküler |
{Craniosynostosis 5, susceptibility to} |
ALX4 |
İncele |
| 76 |
Moleküler |
Osteopathia striata with cranial sclerosis |
AMER1 |
İncele |
| 77 |
Moleküler |
Persistent Mullerian duct syndrome, type I |
AMH |
İncele |
| 78 |
Moleküler |
Imerslund-Grasbeck syndrome 2 |
AMN |
İncele |
| 79 |
Moleküler |
Glycine encephalopathy |
AMT |
İncele |
| 80 |
Moleküler |
Glycine encephalopathy |
AMT |
İncele |
| 81 |
Moleküler |
?Angioedema, hereditary, 5 |
ANGPT1 |
İncele |
| 82 |
Moleküler |
GAPO syndrome |
ANTXR1 |
İncele |
| 83 |
Moleküler |
{?Hemangioma, capillary infantile, susceptibility to} |
ANTXR1 |
İncele |
| 84 |
Moleküler |
Hypocalciuric hypercalcemia, type III |
AP2S1 |
İncele |
| 85 |
Moleküler |
Hyperchylomicronemia, late-onset |
APOA5 |
İncele |
| 86 |
Moleküler |
{Hypertriglyceridemia, susceptibility to} |
APOA5 |
İncele |
| 87 |
Moleküler |
Hypercholesterolemia, familial, 2 |
APOB |
İncele |
| 88 |
Moleküler |
Hypobetalipoproteinemia |
APOB |
İncele |
| 89 |
Moleküler |
Hyperlipoproteinemia, type Ib |
APOC2 |
İncele |
| 90 |
Moleküler |
Alzheimer disease-2 |
APOE |
İncele |
| 91 |
Moleküler |
Sea-blue histiocyte disease |
APOE |
İncele |
| 92 |
Moleküler |
{?Macular degeneration, age-related} |
APOE |
İncele |
| 93 |
Moleküler |
Lipoprotein glomerulopathy |
APOE |
İncele |
| 94 |
Moleküler |
{Coronary artery disease, severe, susceptibility to} |
APOE |
İncele |
| 95 |
Moleküler |
Hyperlipoproteinemia, type III |
APOE |
İncele |
| 96 |
Moleküler |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
APTX |
İncele |
| 97 |
Moleküler |
Diabetes insipidus, nephrogenic, 2 |
AQP2 |
İncele |
| 98 |
Moleküler |
{Prostate cancer, susceptibility to} |
AR |
İncele |
| 99 |
Moleküler |
Androgen insensitivity |
AR |
İncele |
| 100 |
Moleküler |
Hypospadias 1, X-linked |
AR |
İncele |
| 101 |
Moleküler |
Androgen insensitivity, partial, with or without breast cancer |
AR |
İncele |
| 102 |
Moleküler |
Spinal and bulbar muscular atrophy of Kennedy |
AR |
İncele |
| 103 |
Moleküler |
Argininemia |
ARG1 |
İncele |
| 104 |
Moleküler |
Adams-Oliver syndrome 1 |
ARHGAP31 |
İncele |
| 105 |
Moleküler |
Nephrotic syndrome, type 8 |
ARHGDIA |
İncele |
| 106 |
Moleküler |
Coffin-Siris syndrome 1 |
ARID1B |
İncele |
| 107 |
Moleküler |
ACTH-independent macronodular adrenal hyperplasia 2 |
ARMC5 |
İncele |
| 108 |
Moleküler |
Proud syndrome |
ARX |
İncele |
| 109 |
Moleküler |
Hydranencephaly with abnormal genitalia |
ARX |
İncele |
| 110 |
Moleküler |
Lissencephaly, X-linked 2 |
ARX |
İncele |
| 111 |
Moleküler |
Mental retardation, X-linked 29 and others |
ARX |
İncele |
| 112 |
Moleküler |
Epileptic encephalopathy, early infantile, 1 |
ARX |
İncele |
| 113 |
Moleküler |
Partington syndrome |
ARX |
İncele |
| 114 |
Moleküler |
Spinal muscular atrophy with progressive myoclonic epilepsy |
ASAH1 |
İncele |
| 115 |
Moleküler |
Farber lipogranulomatosis |
ASAH1 |
İncele |
| 116 |
Moleküler |
Canavan disease |
ASPA |
İncele |
| 117 |
Moleküler |
Microcephaly 5, primary, autosomal recessive |
ASPM |
İncele |
| 118 |
Moleküler |
Citrullinemia |
ASS1 |
İncele |
| 119 |
Moleküler |
Bohring-Opitz syndrome |
ASXL1 |
İncele |
| 120 |
Moleküler |
Myelodysplastic syndrome, somatic |
ASXL1 |
İncele |
| 121 |
Moleküler |
Neuropathy, hereditary sensory, type IF |
ATL3 |
İncele |
| 122 |
Moleküler |
Kufor-Rakeb syndrome |
ATP13A2 |
İncele |
| 123 |
Moleküler |
Spastic paraplegia 78, autosomal recessive |
ATP13A2 |
İncele |
| 124 |
Moleküler |
Alternating hemiplegia of childhood 1 |
ATP1A2 |
İncele |
| 125 |
Moleküler |
Migraine, familial basilar |
ATP1A2 |
İncele |
| 126 |
Moleküler |
Migraine, familial hemiplegic, 2 |
ATP1A2 |
İncele |
| 127 |
Moleküler |
Renal tubular acidosis with deafness |
ATP6V1B1 |
İncele |
| 128 |
Moleküler |
Spinal muscular atrophy, distal, X-linked 3 |
ATP7A |
İncele |
| 129 |
Moleküler |
Occipital horn syndrome |
ATP7A |
İncele |
| 130 |
Moleküler |
Menkes disease |
ATP7A |
İncele |
| 131 |
Moleküler |
Cholestasis, intrahepatic, of pregnancy, 1 |
ATP8B1 |
İncele |
| 132 |
Moleküler |
Cholestasis, progressive familial intrahepatic 1 |
ATP8B1 |
İncele |
| 133 |
Moleküler |
Cholestasis, benign recurrent intrahepatic |
ATP8B1 |
İncele |
| 134 |
Moleküler |
Seckel syndrome 1 |
ATR |
İncele |
| 135 |
Moleküler |
?Cutaneous telangiectasia and cancer syndrome, familial |
ATR |
İncele |
| 136 |
Moleküler |
Alpha-thalassemia myelodysplasia syndrome, somatic |
ATRX |
İncele |
| 137 |
Moleküler |
Alpha-thalassemia/mental retardation syndrome |
ATRX |
İncele |
| 138 |
Moleküler |
Mental retardation-hypotonic facies syndrome, X-linked |
ATRX |
İncele |
| 139 |
Moleküler |
Spinocerebellar ataxia 1 |
ATXN1 |
İncele |
| 140 |
Moleküler |
{Parkinson disease, late-onset, susceptibility to} |
ATXN2 |
İncele |
| 141 |
Moleküler |
{Amyotrophic lateral sclerosis, susceptibility to, 13} |
ATXN2 |
İncele |
| 142 |
Moleküler |
Spinocerebellar ataxia 2 |
ATXN2 |
İncele |
| 143 |
Moleküler |
Machado-Joseph disease |
ATXN3 |
İncele |
| 144 |
Moleküler |
3-Methylglutaconic Aciduria, Type Viii, Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B |
AUP1 |
İncele |
| 145 |
Moleküler |
Nephrogenic syndrome of inappropriate antidiuresis |
AVPR2 |
İncele |
| 146 |
Moleküler |
Diabetes insipidus, nephrogenic |
AVPR2 |
İncele |
| 147 |
Moleküler |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 |
B3GALNT2 |
İncele |
| 148 |
Moleküler |
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects |
B3GAT3 |
İncele |
| 149 |
Moleküler |
Tumor predisposition syndrome |
BAP1 |
İncele |
| 150 |
Moleküler |
Bardet-Biedl syndrome 10 |
BBS10 |
İncele |
| 151 |
Moleküler |
Maple syrup urine disease, type Ia |
BCKDHA |
İncele |
| 152 |
Moleküler |
Maple syrup urine disease, type Ib |
BCKDHB |
İncele |
| 153 |
Moleküler |
Branched-chain ketoacid dehydrogenase kinase deficiency |
BCKDK |
İncele |
| 154 |
Moleküler |
Maturity-onset diabetes of the young, type 11 |
BLK |
İncele |
| 155 |
Moleküler |
Bloom syndrome |
BLM |
İncele |
| 156 |
Moleküler |
Pulmonary hypertension, familial primary, 1, with or without HHT |
BMPR2 |
İncele |
| 157 |
Moleküler |
Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated |
BMPR2 |
İncele |
| 158 |
Moleküler |
Pulmonary venoocclusive disease 1 |
BMPR2 |
İncele |
| 159 |
Moleküler |
Cardiofaciocutaneous syndrome |
BRAF |
İncele |
| 160 |
Moleküler |
Adenocarcinoma of lung, somatic |
BRAF |
İncele |
| 161 |
Moleküler |
Noonan syndrome 7 |
BRAF |
İncele |
| 162 |
Moleküler |
LEOPARD syndrome 3 |
BRAF |
İncele |
| 163 |
Moleküler |
Colorectal cancer, somatic |
BRAF |
İncele |
| 164 |
Moleküler |
Melanoma, malignant, somatic |
BRAF |
İncele |
| 165 |
Moleküler |
Nonsmall cell lung cancer, somatic |
BRAF |
İncele |
| 166 |
Moleküler |
Bartter syndrome, type 4a |
BSND |
İncele |
| 167 |
Moleküler |
Sensorineural deafness with mild renal dysfunction |
BSND |
İncele |
| 168 |
Moleküler |
Agammaglobulinemia, X-linked 1 |
BTK |
İncele |
| 169 |
Moleküler |
Isolated growth hormone deficiency, type III, with agammaglobulinemia |
BTK |
İncele |
| 170 |
Moleküler |
Ehlers-Danlos syndrome, periodontal type, 1 |
C1R |
İncele |
| 171 |
Moleküler |
[Blood group, Rodgers] |
C4A |
İncele |
| 172 |
Moleküler |
C4a deficiency |
C4A |
İncele |
| 173 |
Moleküler |
C5 deficiency |
C5 |
İncele |
| 174 |
Moleküler |
[Eculizumab, poor response to] |
C5 |
İncele |
| 175 |
Moleküler |
Frontotemporal dementia and+or amyotrophic lateral sclerosis 1 |
C9ORF72 |
İncele |
| 176 |
Moleküler |
Episodic ataxia, type 2 |
CACNA1A |
İncele |
| 177 |
Moleküler |
Migraine, familial hemiplegic, 1 |
CACNA1A |
İncele |
| 178 |
Moleküler |
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia |
CACNA1A |
İncele |
| 179 |
Moleküler |
Spinocerebellar ataxia 6 |
CACNA1A |
İncele |
| 180 |
Moleküler |
Epileptic encephalopathy, early infantile, 42 |
CACNA1A |
İncele |
| 181 |
Moleküler |
Hypokalemic periodic paralysis, type 1 |
CACNA1S |
İncele |
| 182 |
Moleküler |
{Thyrotoxic periodic paralysis, susceptibility to, 1} |
CACNA1S |
İncele |
| 183 |
Moleküler |
{Malignant hyperthermia susceptibility 5} |
CACNA1S |
İncele |
| 184 |
Moleküler |
Autoimmune lymphoproliferative syndrome, type II |
CASP10 |
İncele |
| 185 |
Moleküler |
Lymphoma, non-Hodgkin, somatic |
CASP10 |
İncele |
| 186 |
Moleküler |
Gastric cancer, somatic |
CASP10 |
İncele |
| 187 |
Moleküler |
Hypocalciuric hypercalcemia, type I |
CASR |
İncele |
| 188 |
Moleküler |
Hyperparathyroidism, neonatal |
CASR |
İncele |
| 189 |
Moleküler |
Hypocalcemia, autosomal dominant |
CASR |
İncele |
| 190 |
Moleküler |
Hypocalcemia, autosomal dominant, with Bartter syndrome |
CASR |
İncele |
| 191 |
Moleküler |
{Epilepsy idiopathic generalized, susceptibility to, 8} |
CASR |
İncele |
| 192 |
Moleküler |
Spermatogenic failure 7 |
CATSPER1 |
İncele |
| 193 |
Moleküler |
Homocystinuria, B6-responsive and nonresponsive types |
CBS |
İncele |
| 194 |
Moleküler |
Thrombosis, hyperhomocysteinemic |
CBS |
İncele |
| 195 |
Moleküler |
3-M syndrome 3 |
CCDC8 |
İncele |
| 196 |
Moleküler |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
CCND2 |
İncele |
| 197 |
Moleküler |
Lymphoproliferative syndrome 2 |
CD27 |
İncele |
| 198 |
Moleküler |
Immunodeficiency, X-linked, with hyper-IgM |
CD40LG |
İncele |
| 199 |
Moleküler |
{Hemolytic uremic syndrome, atypical, susceptibility to, 2} |
CD46 |
İncele |
| 200 |
Moleküler |
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy |
CD55 |
İncele |
| 201 |
Moleküler |
[Blood group Cromer] |
CD55 |
İncele |
| 202 |
Moleküler |
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy |
CD59 |
İncele |
| 203 |
Moleküler |
C syndrome |
CD96 |
İncele |
| 204 |
Moleküler |
Dyserythropoietic anemia, congenital, type Ia |
CDAN1 |
İncele |
| 205 |
Moleküler |
Hyperparathyroidism, familial primary |
CDC73 |
İncele |
| 206 |
Moleküler |
Hyperparathyroidism-jaw tumor syndrome |
CDC73 |
İncele |
| 207 |
Moleküler |
Parathyroid adenoma with cystic changes |
CDC73 |
İncele |
| 208 |
Moleküler |
Parathyroid carcinoma |
CDC73 |
İncele |
| 209 |
Moleküler |
{Breast cancer, lobular} |
CDH1 |
İncele |
| 210 |
Moleküler |
Blepharocheilodontic syndrome 1 |
CDH1 |
İncele |
| 211 |
Moleküler |
Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate |
CDH1 |
İncele |
| 212 |
Moleküler |
Ovarian cancer, somatic |
CDH1 |
İncele |
| 213 |
Moleküler |
{Prostate cancer, susceptibility to} |
CDH1 |
İncele |
| 214 |
Moleküler |
Endometrial carcinoma, somatic |
CDH1 |
İncele |
| 215 |
Moleküler |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy |
CDH3 |
İncele |
| 216 |
Moleküler |
Hypotrichosis, congenital, with juvenile macular dystrophy |
CDH3 |
İncele |
| 217 |
Moleküler |
Epileptic encephalopathy, early infantile, 2 |
CDKL5 |
İncele |
| 218 |
Moleküler |
Beckwith-Wiedemann syndrome |
CDKN1C |
İncele |
| 219 |
Moleküler |
IMAGE syndrome |
CDKN1C |
İncele |
| 220 |
Moleküler |
{Melanoma, cutaneous malignant, 2} |
CDKN2A |
İncele |
| 221 |
Moleküler |
{Melanoma and neural system tumor syndrome} |
CDKN2A |
İncele |
| 222 |
Moleküler |
{Melanoma-pancreatic cancer syndrome} |
CDKN2A |
İncele |
| 223 |
Moleküler |
?Leukemia, acute myeloid |
CEBPA |
İncele |
| 224 |
Moleküler |
Leukemia, acute myeloid, somatic |
CEBPA |
İncele |
| 225 |
Moleküler |
Maturity-onset diabetes of the young, type VIII |
CEL |
İncele |
| 226 |
Moleküler |
CHARGE syndrome |
CHD7 |
İncele |
| 227 |
Moleküler |
Hypogonadotropic hypogonadism 5 with or without anosmia |
CHD7 |
İncele |
| 228 |
Moleküler |
{Autism, susceptibility to, 18} |
CHD8 |
İncele |
| 229 |
Moleküler |
{Schizophrenia, susceptibility to} |
CHI3L1 |
İncele |
| 230 |
Moleküler |
{Asthma-related traits, susceptibility to, 7} |
CHI3L1 |
İncele |
| 231 |
Moleküler |
?Prune belly syndrome |
CHRM3 |
İncele |
| 232 |
Moleküler |
Myasthenic syndrome, congenital, 4A, slow-channel |
CHRNE |
İncele |
| 233 |
Moleküler |
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency |
CHRNE |
İncele |
| 234 |
Moleküler |
Myasthenic syndrome, congenital, 4B, fast-channel |
CHRNE |
İncele |
| 235 |
Moleküler |
Escobar syndrome |
CHRNG |
İncele |
| 236 |
Moleküler |
Multiple pterygium syndrome, lethal type |
CHRNG |
İncele |
| 237 |
Moleküler |
Spondyloepiphyseal dysplasia with congenital joint dislocations |
CHST3 |
İncele |
| 238 |
Moleküler |
Filippi syndrome |
CKAP2L |
İncele |
| 239 |
Moleküler |
Dent disease |
CLCN5 |
İncele |
| 240 |
Moleküler |
Hypophosphatemic rickets |
CLCN5 |
İncele |
| 241 |
Moleküler |
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis |
CLCN5 |
İncele |
| 242 |
Moleküler |
Nephrolithiasis, type I |
CLCN5 |
İncele |
| 243 |
Moleküler |
Osteopetrosis, autosomal dominant 2 |
CLCN7 |
İncele |
| 244 |
Moleküler |
Osteopetrosis, autosomal recessive 4 |
CLCN7 |
İncele |
| 245 |
Moleküler |
Bartter syndrome, type 4b, digenic |
CLCNKA |
İncele |
| 246 |
Moleküler |
Bartter syndrome, type 3 |
CLCNKB |
İncele |
| 247 |
Moleküler |
Bartter syndrome, type 4b, digenic |
CLCNKB |
İncele |
| 248 |
Moleküler |
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis |
CLDN1 |
İncele |
| 249 |
Moleküler |
Hypomagnesemia 3, renal |
CLDN16 |
İncele |
| 250 |
Moleküler |
Ceroid lipofuscinosis, neuronal, 3 |
CLN3 |
İncele |
| 251 |
Moleküler |
Ceroid lipofuscinosis, neuronal, 8 |
CLN8 |
İncele |
| 252 |
Moleküler |
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant |
CLN8 |
İncele |
| 253 |
Moleküler |
Usher syndrome, type 3A |
CLRN1 |
İncele |
| 254 |
Moleküler |
Retinitis pigmentosa 61 |
CLRN1 |
İncele |
| 255 |
Moleküler |
Achromatopsia 3 |
CNGB3 |
İncele |
| 256 |
Moleküler |
Stickler syndrome, type I |
COL2A1 |
İncele |
| 257 |
Moleküler |
Epiphyseal dysplasia, multiple, with myopia and deafness |
COL2A1 |
İncele |
| 258 |
Moleküler |
Legg-Calve-Perthes disease |
COL2A1 |
İncele |
| 259 |
Moleküler |
Platyspondylic skeletal dysplasia, Torrance type |
COL2A1 |
İncele |
| 260 |
Moleküler |
Kniest dysplasia |
COL2A1 |
İncele |
| 261 |
Moleküler |
SED congenita |
COL2A1 |
İncele |
| 262 |
Moleküler |
SMED Strudwick type |
COL2A1 |
İncele |
| 263 |
Moleküler |
Achondrogenesis, type II or hypochondrogenesis |
COL2A1 |
İncele |
| 264 |
Moleküler |
Spondyloperipheral dysplasia |
COL2A1 |
İncele |
| 265 |
Moleküler |
Osteoarthritis with mild chondrodysplasia |
COL2A1 |
İncele |
| 266 |
Moleküler |
Avascular necrosis of the femoral head |
COL2A1 |
İncele |
| 267 |
Moleküler |
Czech dysplasia |
COL2A1 |
İncele |
| 268 |
Moleküler |
Stickler sydrome, type I, nonsyndromic ocular |
COL2A1 |
İncele |
| 269 |
Moleküler |
Spondyloepiphyseal dysplasia, Stanescu type |
COL2A1 |
İncele |
| 270 |
Moleküler |
Vitreoretinopathy with phalangeal epiphyseal dysplasia |
COL2A1 |
İncele |
| 271 |
Moleküler |
Ehlers-Danlos syndrome, vascular type |
COL3A1 |
İncele |
| 272 |
Moleküler |
Polymicrogyria with or without vascular-type EDS |
COL3A1 |
İncele |
| 273 |
Moleküler |
Ehlers-Danlos syndrome, classic type, 1 |
COL5A1 |
İncele |
| 274 |
Moleküler |
Ehlers-Danlos syndrome, classic type, 2 |
COL5A2 |
İncele |
| 275 |
Moleküler |
Bethlem myopathy 1 |
COL6A1 |
İncele |
| 276 |
Moleküler |
Ullrich congenital muscular dystrophy 1 |
COL6A1 |
İncele |
| 277 |
Moleküler |
Bethlem myopathy 1 |
COL6A2 |
İncele |
| 278 |
Moleküler |
Ullrich congenital muscular dystrophy 1 |
COL6A2 |
İncele |
| 279 |
Moleküler |
?Myosclerosis, congenital |
COL6A2 |
İncele |
| 280 |
Moleküler |
Bethlem myopathy 1 |
COL6A3 |
İncele |
| 281 |
Moleküler |
Ullrich congenital muscular dystrophy 1 |
COL6A3 |
İncele |
| 282 |
Moleküler |
Dystonia 27 |
COL6A3 |
İncele |
| 283 |
Moleküler |
Stickler syndrome, type IV |
COL9A1 |
İncele |
| 284 |
Moleküler |
?Epiphyseal dysplasia, multiple, 6 |
COL9A1 |
İncele |
| 285 |
Moleküler |
Myasthenic syndrome, congenital, 5 |
COLQ |
İncele |
| 286 |
Moleküler |
Epiphyseal dysplasia, multiple, 1 |
COMP |
İncele |
| 287 |
Moleküler |
Pseudoachondroplasia |
COMP |
İncele |
| 288 |
Moleküler |
Carpal tunnel syndrome 2 |
COMP |
İncele |
| 289 |
Moleküler |
{Multiple system atrophy, susceptibility to} |
COQ2 |
İncele |
| 290 |
Moleküler |
Coenzyme Q10 deficiency, primary, 1 |
COQ2 |
İncele |
| 291 |
Moleküler |
Coenzyme Q10 deficiency, primary, 6 |
COQ6 |
İncele |
| 292 |
Moleküler |
Carbamoylphosphate synthetase I deficiency |
CPS1 |
İncele |
| 293 |
Moleküler |
{Pulmonary hypertension, neonatal, susceptibility to} |
CPS1 |
İncele |
| 294 |
Moleküler |
CPT II deficiency, myopathic, stress-induced |
CPT2 |
İncele |
| 295 |
Moleküler |
CPT II deficiency, infantile |
CPT2 |
İncele |
| 296 |
Moleküler |
CPT II deficiency, lethal neonatal |
CPT2 |
İncele |
| 297 |
Moleküler |
{Encephalopathy, acute, infection-induced, 4, susceptibility to} |
CPT2 |
İncele |
| 298 |
Moleküler |
Rubinstein-Taybi syndrome 1 |
CREBBP |
İncele |
| 299 |
Moleküler |
Menke-Hennekam syndrome 1 |
CREBBP |
İncele |
| 300 |
Moleküler |
Short stature with microcephaly and distinctive facies |
CRIPT |
İncele |
| 301 |
Moleküler |
Cold-induced sweating syndrome 1 |
CRLF1 |
İncele |
| 302 |
Moleküler |
Osteogenesis imperfecta, type VII |
CRTAP |
İncele |
| 303 |
Moleküler |
Cone-rod retinal dystrophy-2 |
CRX |
İncele |
| 304 |
Moleküler |
Leber congenital amaurosis 7 |
CRX |
İncele |
| 305 |
Moleküler |
Neutropenia, severe congenital, 7, autosomal recessive |
CSF3R |
İncele |
| 306 |
Moleküler |
Colorectal cancer, somatic |
CTNNB1 |
İncele |
| 307 |
Moleküler |
Hepatocellular carcinoma, somatic |
CTNNB1 |
İncele |
| 308 |
Moleküler |
Pilomatricoma, somatic |
CTNNB1 |
İncele |
| 309 |
Moleküler |
Medulloblastoma, somatic |
CTNNB1 |
İncele |
| 310 |
Moleküler |
Ovarian cancer, somatic |
CTNNB1 |
İncele |
| 311 |
Moleküler |
Neurodevelopmental disorder with spastic diplegia and visual defects |
CTNNB1 |
İncele |
| 312 |
Moleküler |
Exudative vitreoretinopathy 7 |
CTNNB1 |
İncele |
| 313 |
Moleküler |
Cystinosis, ocular nonnephropathic |
CTNS |
İncele |
| 314 |
Moleküler |
Cystinosis, atypical nephropathic |
CTNS |
İncele |
| 315 |
Moleküler |
Cystinosis, nephropathic |
CTNS |
İncele |
| 316 |
Moleküler |
Cystinosis, late-onset juvenile or adolescent nephropathic |
CTNS |
İncele |
| 317 |
Moleküler |
{Pancreatitis, chronic, susceptibility to} |
CTRC |
İncele |
| 318 |
Moleküler |
Periodontitis 1, juvenile |
CTSC |
İncele |
| 319 |
Moleküler |
Papillon-Lefevre syndrome |
CTSC |
İncele |
| 320 |
Moleküler |
Haim-Munk syndrome |
CTSC |
İncele |
| 321 |
Moleküler |
Pycnodysostosis |
CTSK |
İncele |
| 322 |
Moleküler |
3-M syndrome 1 |
CUL7 |
İncele |
| 323 |
Moleküler |
Methemoglobinemia, type I |
CYB5R3 |
İncele |
| 324 |
Moleküler |
Methemoglobinemia, type II |
CYB5R3 |
İncele |
| 325 |
Moleküler |
Thrombocytopenia 4 |
CYCS |
İncele |
| 326 |
Moleküler |
Aldosteronism, glucocorticoid-remediable |
CYP11B1 |
İncele |
| 327 |
Moleküler |
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency |
CYP11B1 |
İncele |
| 328 |
Moleküler |
Hypoaldosteronism, congenital, due to CMO I deficiency |
CYP11B2 |
İncele |
| 329 |
Moleküler |
Hypoaldosteronism, congenital, due to CMO II deficiency |
CYP11B2 |
İncele |
| 330 |
Moleküler |
{Low renin hypertension, susceptibility to} |
CYP11B2 |
İncele |
| 331 |
Moleküler |
Aldosterone to renin ratio raised |
CYP11B2 |
İncele |
| 332 |
Moleküler |
17,20-lyase deficiency, isolated |
CYP17A1 |
İncele |
| 333 |
Moleküler |
17-alpha-hydroxylase+17,20-lyase deficiency |
CYP17A1 |
İncele |
| 334 |
Moleküler |
Aromatase excess syndrome |
CYP19A1 |
İncele |
| 335 |
Moleküler |
Aromatase deficiency |
CYP19A1 |
İncele |
| 336 |
Moleküler |
Hypercalcemia, infantile, 1 |
CYP24A1 |
İncele |
| 337 |
Moleküler |
Cerebrotendinous xanthomatosis |
CYP27A1 |
İncele |
| 338 |
Moleküler |
Vitamin D-dependent rickets, type I |
CYP27B1 |
İncele |
| 339 |
Moleküler |
Clopidogrel, impaired responsiveness to |
CYP2C19 |
İncele |
| 340 |
Moleküler |
Mephenytoin poor metabolizer |
CYP2C19 |
İncele |
| 341 |
Moleküler |
Omeprazole poor metabolizer |
CYP2C19 |
İncele |
| 342 |
Moleküler |
Proguanil poor metabolizer |
CYP2C19 |
İncele |
| 343 |
Moleküler |
Warfarin sensitivity |
CYP2C9 |
İncele |
| 344 |
Moleküler |
Tolbutamide poor metabolizer |
CYP2C9 |
İncele |
| 345 |
Moleküler |
Rickets due to defect in vitamin D 25-hydroxylation |
CYP2R1 |
İncele |
| 346 |
Moleküler |
|
CYP3A4 |
İncele |
| 347 |
Moleküler |
Maple syrup urine disease, type II |
DBT |
İncele |
| 348 |
Moleküler |
Severe combined immunodeficiency, Athabascan type |
DCLRE1C |
İncele |
| 349 |
Moleküler |
Omenn syndrome |
DCLRE1C |
İncele |
| 350 |
Moleküler |
{Hemolytic uremic syndrome, atypical, susceptibility to, 7} |
DGKE |
İncele |
| 351 |
Moleküler |
Nephrotic syndrome, type 7 |
DGKE |
İncele |
| 352 |
Moleküler |
Smith-Lemli-Opitz syndrome |
DHCR7 |
İncele |
| 353 |
Moleküler |
Dyskeratosis congenita, X-linked |
DKC1 |
İncele |
| 354 |
Moleküler |
Hypophosphatemic rickets, AR |
DMP1 |
İncele |
| 355 |
Moleküler |
Ciliary dyskinesia, primary, 3, with or without situs inversus |
DNAH5 |
İncele |
| 356 |
Moleküler |
Ciliary dyskinesia, primary, 1, with or without situs inversus |
DNAI1 |
İncele |
| 357 |
Moleküler |
Hyper-IgE recurrent infection syndrome, autosomal recessive |
DOCK8 |
İncele |
| 358 |
Moleküler |
Myasthenic syndrome, congenital, 10 |
DOK7 |
İncele |
| 359 |
Moleküler |
Fetal akinesia deformation sequence 3 |
DOK7 |
İncele |
| 360 |
Moleküler |
Microcephaly, short stature, and limb abnormalities |
DONSON |
İncele |
| 361 |
Moleküler |
Microcephaly-micromelia syndrome |
DONSON |
İncele |
| 362 |
Moleküler |
Dyggve-Melchior-Clausen disease |
DYM |
İncele |
| 363 |
Moleküler |
Smith-McCort dysplasia |
DYM |
İncele |
| 364 |
Moleküler |
Urbach-Wiethe disease |
ECM1 |
İncele |
| 365 |
Moleküler |
Ectodermal dysplasia 1, hypohidrotic, X-linked |
EDA |
İncele |
| 366 |
Moleküler |
Tooth agenesis, selective, X-linked 1 |
EDA |
İncele |
| 367 |
Moleküler |
Ectodermal dysplasia 10A, hypohidrotic+hair+nail type, autosomal dominant |
EDAR |
İncele |
| 368 |
Moleküler |
Ectodermal dysplasia 10B, hypohidrotic+hair+tooth type, autosomal recessive |
EDAR |
İncele |
| 369 |
Moleküler |
[Hair morphology 1, hair thickness] |
EDAR |
İncele |
| 370 |
Moleküler |
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
EDARADD |
İncele |
| 371 |
Moleküler |
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
EDARADD |
İncele |
| 372 |
Moleküler |
{Myoclonic epilepsy, juvenile, susceptibility to, 1} |
EFHC1 |
İncele |
| 373 |
Moleküler |
{Epilepsy, juvenile absence, susceptibility to, 1} |
EFHC1 |
İncele |
| 374 |
Moleküler |
Neutropenia, cyclic |
ELANE |
İncele |
| 375 |
Moleküler |
Neutropenia, severe congenital 1, autosomal dominant |
ELANE |
İncele |
| 376 |
Moleküler |
Emery-Dreifuss muscular dystrophy 1, X-linked |
EMD |
İncele |
| 377 |
Moleküler |
Autism 10 and Autism |
EN2 |
İncele |
| 378 |
Moleküler |
Telangiectasia, hereditary hemorrhagic, type 1 |
ENG |
İncele |
| 379 |
Moleküler |
{Diabetes mellitus, non-insulin-dependent, susceptibility to} |
ENPP1 |
İncele |
| 380 |
Moleküler |
Arterial calcification, generalized, of infancy, 1 |
ENPP1 |
İncele |
| 381 |
Moleküler |
{Obesity, susceptibility to} |
ENPP1 |
İncele |
| 382 |
Moleküler |
Hypophosphatemic rickets, autosomal recessive, 2 |
ENPP1 |
İncele |
| 383 |
Moleküler |
Cole disease |
ENPP1 |
İncele |
| 384 |
Moleküler |
Adams-Oliver syndrome 4 |
EOGT |
İncele |
| 385 |
Moleküler |
Diarrhea 5, with tufting enteropathy, congenital |
EPCAM |
İncele |
| 386 |
Moleküler |
Colorectal cancer, hereditary nonpolyposis, type 8 |
EPCAM |
İncele |
| 387 |
Moleküler |
Epilepsy, progressive myoclonic 2A (Lafora) |
EPM2A |
İncele |
| 388 |
Moleküler |
Cockayne syndrome, type B |
ERCC6 |
İncele |
| 389 |
Moleküler |
{Lung cancer, susceptibility to} |
ERCC6 |
İncele |
| 390 |
Moleküler |
Cerebrooculofacioskeletal syndrome 1 |
ERCC6 |
İncele |
| 391 |
Moleküler |
De Sanctis-Cacchione syndrome |
ERCC6 |
İncele |
| 392 |
Moleküler |
UV-sensitive syndrome 1 |
ERCC6 |
İncele |
| 393 |
Moleküler |
{Macular degeneration, age-related, susceptibility to, 5} |
ERCC6 |
İncele |
| 394 |
Moleküler |
Premature ovarian failure 11 |
ERCC6 |
İncele |
| 395 |
Moleküler |
Cockayne syndrome, type A |
ERCC8 |
İncele |
| 396 |
Moleküler |
UV-sensitive syndrome 2 |
ERCC8 |
İncele |
| 397 |
Moleküler |
Craniosynostosis 4 |
ERF |
İncele |
| 398 |
Moleküler |
Chitayat syndrome |
ERF |
İncele |
| 399 |
Moleküler |
?Arthrogryposis multiplex congenita, neurogenic type |
ERGIC1 |
İncele |
| 400 |
Moleküler |
Roberts syndrome |
ESCO2 |
İncele |
| 401 |
Moleküler |
SC phocomelia syndrome |
ESCO2 |
İncele |
| 402 |
Moleküler |
Glutaric acidemia IIA |
ETFA |
İncele |
| 403 |
Moleküler |
Glutaric acidemia IIB |
ETFB |
İncele |
| 404 |
Moleküler |
Glutaric acidemia IIC |
ETFDH |
İncele |
| 405 |
Moleküler |
?Weyers acrofacial dysostosis |
EVC |
İncele |
| 406 |
Moleküler |
Ellis-van Creveld syndrome |
EVC |
İncele |
| 407 |
Moleküler |
Weyers acrofacial dysostosis |
EVC2 |
İncele |
| 408 |
Moleküler |
Ellis-van Creveld syndrome |
EVC2 |
İncele |
| 409 |
Moleküler |
Exostoses, multiple, type 1 |
EXT1 |
İncele |
| 410 |
Moleküler |
Chondrosarcoma |
EXT1 |
İncele |
| 411 |
Moleküler |
Branchiootorenal syndrome 1, with or without cataracts |
EYA1 |
İncele |
| 412 |
Moleküler |
?Otofaciocervical syndrome |
EYA1 |
İncele |
| 413 |
Moleküler |
Anterior segment anomalies with or without cataract |
EYA1 |
İncele |
| 414 |
Moleküler |
Branchiootic syndrome 1 |
EYA1 |
İncele |
| 415 |
Moleküler |
Factor XII deficiency |
F12 |
İncele |
| 416 |
Moleküler |
Angioedema, hereditary, 3 |
F12 |
İncele |
| 417 |
Moleküler |
Factor VII deficiency |
F7 |
İncele |
| 418 |
Moleküler |
{Myocardial infarction, decreased susceptibility to} |
F7 |
İncele |
| 419 |
Moleküler |
Tyrosinemia, type I |
FAH |
İncele |
| 420 |
Moleküler |
Kenny-Caffey syndrome, type 2 |
FAM111A |
İncele |
| 421 |
Moleküler |
Gracile bone dysplasia |
FAM111A |
İncele |
| 422 |
Moleküler |
Fanconi anemia, complementation group A |
FANCA |
İncele |
| 423 |
Moleküler |
Fanconi anemia, complementation group C |
FANCC |
İncele |
| 424 |
Moleküler |
Fanconi anemia, complementation group G |
FANCG |
İncele |
| 425 |
Moleküler |
{Autoimmune lymphoproliferative syndrome} |
FAS |
İncele |
| 426 |
Moleküler |
Autoimmune lymphoproliferative syndrome, type IA |
FAS |
İncele |
| 427 |
Moleküler |
Squamous cell carcinoma, burn scar-related, somatic |
FAS |
İncele |
| 428 |
Moleküler |
{Lung cancer, susceptibility to} |
FASLG |
İncele |
| 429 |
Moleküler |
Autoimmune lymphoproliferative syndrome, type IB |
FASLG |
İncele |
| 430 |
Moleküler |
Fructose-1,6-bisphosphatase deficiency |
FBP1 |
İncele |
| 431 |
Moleküler |
Thrombocytopenic purpura, autoimmune |
FCGR2C |
İncele |
| 432 |
Moleküler |
Leukocyte adhesion deficiency, type III |
FERMT3 |
İncele |
| 433 |
Moleküler |
Amyloidosis, familial visceral |
FGA |
İncele |
| 434 |
Moleküler |
Afibrinogenemia, congenital |
FGA |
İncele |
| 435 |
Moleküler |
Dysfibrinogenemia, congenital |
FGA |
İncele |
| 436 |
Moleküler |
Hypodysfibrinogenemia, congenital |
FGA |
İncele |
| 437 |
Moleküler |
|
FGF1 |
İncele |
| 438 |
Moleküler |
Hypophosphatemic rickets, autosomal dominant |
FGF23 |
İncele |
| 439 |
Moleküler |
Tumoral calcinosis, hyperphosphatemic, familial, 2 |
FGF23 |
İncele |
| 440 |
Moleküler |
Pfeiffer syndrome |
FGFR1 |
İncele |
| 441 |
Moleküler |
Jackson-Weiss syndrome |
FGFR1 |
İncele |
| 442 |
Moleküler |
Hypogonadotropic hypogonadism 2 with or without anosmia |
FGFR1 |
İncele |
| 443 |
Moleküler |
Osteoglophonic dysplasia |
FGFR1 |
İncele |
| 444 |
Moleküler |
Trigonocephaly 1 |
FGFR1 |
İncele |
| 445 |
Moleküler |
Encephalocraniocutaneous lipomatosis |
FGFR1 |
İncele |
| 446 |
Moleküler |
Hartsfield syndrome |
FGFR1 |
İncele |
| 447 |
Moleküler |
Hemophagocytic lymphohistiocytosis, familial, 1 |
FHL1 |
İncele |
| 448 |
Moleküler |
Yunis-Varon syndrome |
FIG4 |
İncele |
| 449 |
Moleküler |
Amyotrophic lateral sclerosis 11 |
FIG4 |
İncele |
| 450 |
Moleküler |
?Polymicrogyria, bilateral temporooccipital |
FIG4 |
İncele |
| 451 |
Moleküler |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
FKTN |
İncele |
| 452 |
Moleküler |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 |
FKTN |
İncele |
| 453 |
Moleküler |
Cardiomyopathy, dilated, 1X |
FKTN |
İncele |
| 454 |
Moleküler |
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 |
FKTN |
İncele |
| 455 |
Moleküler |
Colorectal cancer, somatic |
FLCN |
İncele |
| 456 |
Moleküler |
Birt-Hogg-Dube syndrome |
FLCN |
İncele |
| 457 |
Moleküler |
Renal carcinoma, chromophobe, somatic |
FLCN |
İncele |
| 458 |
Moleküler |
Pneumothorax, primary spontaneous |
FLCN |
İncele |
| 459 |
Moleküler |
Neurodegeneration due to cerebral folate transport deficiency |
FOLR1 |
İncele |
| 460 |
Moleküler |
Anterior segment dysgenesis 3, multiple subtypes |
FOXC1 |
İncele |
| 461 |
Moleküler |
Axenfeld-Rieger syndrome, type 3 |
FOXC1 |
İncele |
| 462 |
Moleküler |
Rett syndrome, congenital variant |
FOXG1 |
İncele |
| 463 |
Moleküler |
Blepharophimosis, epicanthus inversus, and ptosis, type 1 |
FOXL2 |
İncele |
| 464 |
Moleküler |
Blepharophimosis, epicanthus inversus, and ptosis, type 2 |
FOXL2 |
İncele |
| 465 |
Moleküler |
Premature ovarian failure 3 |
FOXL2 |
İncele |
| 466 |
Moleküler |
Fraser syndrome 1 |
FRAS1 |
İncele |
| 467 |
Moleküler |
Ovarian dysgenesis 1 |
FSHR |
İncele |
| 468 |
Moleküler |
Ovarian response to FSH stimulation |
FSHR |
İncele |
| 469 |
Moleküler |
Ovarian hyperstimulation syndrome |
FSHR |
İncele |
| 470 |
Moleküler |
Neurodegeneration with brain iron accumulation 3 |
FTL |
İncele |
| 471 |
Moleküler |
L-ferritin deficiency, dominant and recessive |
FTL |
İncele |
| 472 |
Moleküler |
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia |
FUS |
İncele |
| 473 |
Moleküler |
Essential tremor, hereditary, 4 |
FUS |
İncele |
| 474 |
Moleküler |
Exudative vitreoretinopathy 1 |
FZD4 |
İncele |
| 475 |
Moleküler |
Retinopathy of prematurity |
FZD4 |
İncele |
| 476 |
Moleküler |
Glycogen storage disease Ia |
G6PC |
İncele |
| 477 |
Moleküler |
Glycogen storage disease II |
GAA |
İncele |
| 478 |
Moleküler |
{Epilepsy, childhood absence, susceptibility to, 4} |
GABRA1 |
İncele |
| 479 |
Moleküler |
{Epilepsy, juvenile myoclonic, susceptibility to, 5} |
GABRA1 |
İncele |
| 480 |
Moleküler |
Epileptic encephalopathy, early infantile, 19 |
GABRA1 |
İncele |
| 481 |
Moleküler |
Epilepsy, generalized, with febrile seizures plus, type 3 |
GABRG2 |
İncele |
| 482 |
Moleküler |
Febrile seizures, familial, 8 |
GABRG2 |
İncele |
| 483 |
Moleküler |
Epileptic encephalopathy, early infantile, 74 |
GABRG2 |
İncele |
| 484 |
Moleküler |
Krabbe disease |
GALC |
İncele |
| 485 |
Moleküler |
Mucopolysaccharidosis IVA |
GALNS |
İncele |
| 486 |
Moleküler |
Galactosemia |
GALT |
İncele |
| 487 |
Moleküler |
Cerebral creatine deficiency syndrome 2 |
GAMT |
İncele |
| 488 |
Moleküler |
Giant axonal neuropathy-1 |
GAN |
İncele |
| 489 |
Moleküler |
Leukemia, megakaryoblastic, with or without Down syndrome, somatic |
GATA1 |
İncele |
| 490 |
Moleküler |
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia |
GATA1 |
İncele |
| 491 |
Moleküler |
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities |
GATA1 |
İncele |
| 492 |
Moleküler |
Thrombocytopenia with beta-thalassemia, X-linked |
GATA1 |
İncele |
| 493 |
Moleküler |
Hypoparathyroidism, sensorineural deafness, and renal dysplasia |
GATA3 |
İncele |
| 494 |
Moleküler |
Tetralogy of Fallot |
GATA6 |
İncele |
| 495 |
Moleküler |
Persistent truncus arteriosus |
GATA6 |
İncele |
| 496 |
Moleküler |
Pancreatic agenesis and congenital heart defects |
GATA6 |
İncele |
| 497 |
Moleküler |
Atrioventricular septal defect 5 |
GATA6 |
İncele |
| 498 |
Moleküler |
Atrial septal defect 9 |
GATA6 |
İncele |
| 499 |
Moleküler |
Fanconi renotubular syndrome 1 |
GATM |
İncele |
| 500 |
Moleküler |
Cerebral creatine deficiency syndrome 3 |
GATM |
İncele |
| 501 |
Moleküler |
{Lewy body dementia, susceptibility to} |
GBA |
İncele |
| 502 |
Moleküler |
{Parkinson disease, late-onset, susceptibility to} |
GBA |
İncele |
| 503 |
Moleküler |
Gaucher disease, type I |
GBA |
İncele |
| 504 |
Moleküler |
Gaucher disease, type II |
GBA |
İncele |
| 505 |
Moleküler |
Gaucher disease, type III |
GBA |
İncele |
| 506 |
Moleküler |
Gaucher disease, type IIIC |
GBA |
İncele |
| 507 |
Moleküler |
Gaucher disease, perinatal lethal |
GBA |
İncele |
| 508 |
Moleküler |
Glycogen storage disease IV |
GBE1 |
İncele |
| 509 |
Moleküler |
Polyglucosan body disease, adult form |
GBE1 |
İncele |
| 510 |
Moleküler |
Glutaricaciduria, type I |
GCDH |
İncele |
| 511 |
Moleküler |
MODY, type II |
GCK |
İncele |
| 512 |
Moleküler |
Diabetes mellitus, noninsulin-dependent, late onset |
GCK |
İncele |
| 513 |
Moleküler |
Hyperinsulinemic hypoglycemia, familial, 3 |
GCK |
İncele |
| 514 |
Moleküler |
Diabetes mellitus, permanent neonatal |
GCK |
İncele |
| 515 |
Moleküler |
Hyperparathyroidism 4 |
GCM2 |
İncele |
| 516 |
Moleküler |
Hypoparathyroidism, familial isolated 2 |
GCM2 |
İncele |
| 517 |
Moleküler |
Glycine encephalopathy |
GCSH |
İncele |
| 518 |
Moleküler |
Right atrial isomerism (Ivemark) |
GDF1 |
İncele |
| 519 |
Moleküler |
Congenital heart defects, multiple types, 6 |
GDF1 |
İncele |
| 520 |
Moleküler |
Klippel-Feil syndrome 3, autosomal dominant |
GDF3 |
İncele |
| 521 |
Moleküler |
Microphthalmia with coloboma 6 |
GDF3 |
İncele |
| 522 |
Moleküler |
Microphthalmia, isolated 7 |
GDF3 |
İncele |
| 523 |
Moleküler |
Klippel-Feil syndrome 1, autosomal dominant |
GDF6 |
İncele |
| 524 |
Moleküler |
Microphthalmia, isolated 4 |
GDF6 |
İncele |
| 525 |
Moleküler |
Microphthalmia with coloboma 6, digenic |
GDF6 |
İncele |
| 526 |
Moleküler |
Leber congenital amaurosis 17 |
GDF6 |
İncele |
| 527 |
Moleküler |
Multiple synostoses syndrome 4 |
GDF6 |
İncele |
| 528 |
Moleküler |
Alexander disease |
GFAP |
İncele |
| 529 |
Moleküler |
?Neutropenia, nonimmune chronic idiopathic, of adults |
GFI |
İncele |
| 530 |
Moleküler |
Neutropenia, severe congenital 2, autosomal dominant |
GFI |
İncele |
| 531 |
Moleküler |
Growth hormone deficiency, isolated, type II |
GH1 |
İncele |
| 532 |
Moleküler |
Growth hormone deficiency, isolated, type IA |
GH1 |
İncele |
| 533 |
Moleküler |
Kowarski syndrome |
GH1 |
İncele |
| 534 |
Moleküler |
Growth hormone deficiency, isolated, type IB |
GH1 |
İncele |
| 535 |
Moleküler |
{Hypercholesterolemia, familial, modifier of} |
GHR |
İncele |
| 536 |
Moleküler |
Laron dwarfism |
GHR |
İncele |
| 537 |
Moleküler |
Growth hormone insensitivity, partial |
GHR |
İncele |
| 538 |
Moleküler |
Increased responsiveness to growth hormone |
GHR |
İncele |
| 539 |
Moleküler |
Vohwinkel syndrome |
GJB2 |
İncele |
| 540 |
Moleküler |
Keratitis-ichthyosis-deafness syndrome |
GJB2 |
İncele |
| 541 |
Moleküler |
Keratoderma, palmoplantar, with deafness |
GJB2 |
İncele |
| 542 |
Moleküler |
Bart-Pumphrey syndrome |
GJB2 |
İncele |
| 543 |
Moleküler |
Deafness, autosomal recessive 1A |
GJB2 |
İncele |
| 544 |
Moleküler |
Deafness, autosomal dominant 3A |
GJB2 |
İncele |
| 545 |
Moleküler |
Hystrix-like ichthyosis with deafness |
GJB2 |
İncele |
| 546 |
Moleküler |
Erythrokeratodermia variabilis et progressiva 1 |
GJB3 |
İncele |
| 547 |
Moleküler |
Deafness, digenic, GJB2+GJB3 |
GJB3 |
İncele |
| 548 |
Moleküler |
Deafness, autosomal dominant 2B |
GJB3 |
İncele |
| 549 |
Moleküler |
Deafness, autosomal dominant, with peripheral neuropathy |
GJB3 |
İncele |
| 550 |
Moleküler |
Deafness, autosomal recessive |
GJB3 |
İncele |
| 551 |
Moleküler |
Ectodermal dysplasia 2, Clouston type |
GJB6 |
İncele |
| 552 |
Moleküler |
Deafness, digenic GJB2+GJB6 |
GJB6 |
İncele |
| 553 |
Moleküler |
Deafness, autosomal dominant 3B |
GJB6 |
İncele |
| 554 |
Moleküler |
Deafness, autosomal recessive 1B |
GJB6 |
İncele |
| 555 |
Moleküler |
Leukodystrophy, hypomyelinating, 2 |
GJC2 |
İncele |
| 556 |
Moleküler |
Spastic paraplegia 44, autosomal recessive |
GJC2 |
İncele |
| 557 |
Moleküler |
Lymphatic malformation 3 |
GJC2 |
İncele |
| 558 |
Moleküler |
GM1-gangliosidosis, type I |
GLB1 |
İncele |
| 559 |
Moleküler |
GM1-gangliosidosis, type II |
GLB1 |
İncele |
| 560 |
Moleküler |
GM1-gangliosidosis, type III |
GLB1 |
İncele |
| 561 |
Moleküler |
Mucopolysaccharidosis type IVB (Morquio) |
GLB1 |
İncele |
| 562 |
Moleküler |
Glycine encephalopathy |
GLDC |
İncele |
| 563 |
Moleküler |
Holoprosencephaly 9 |
GLI2 |
İncele |
| 564 |
Moleküler |
Culler-Jones syndrome |
GLI2 |
İncele |
| 565 |
Moleküler |
Pallister-Hall syndrome |
GLI3 |
İncele |
| 566 |
Moleküler |
Polydactyly, postaxial, types A1 and B |
GLI3 |
İncele |
| 567 |
Moleküler |
Polydactyly, preaxial, type IV |
GLI3 |
İncele |
| 568 |
Moleküler |
Greig cephalopolysyndactyly syndrome |
GLI3 |
İncele |
| 569 |
Moleküler |
{Hypothalamic hamartomas, somatic} |
GLI3 |
İncele |
| 570 |
Moleküler |
Hyperekplexia 1 |
GLRA1 |
İncele |
| 571 |
Moleküler |
Hyperinsulinism-hyperammonemia syndrome |
GLUD1 |
İncele |
| 572 |
Moleküler |
Glutamine deficiency, congenital |
GLUL |
İncele |
| 573 |
Moleküler |
Hypocalciuric hypercalcemia, type II |
GNA11 |
İncele |
| 574 |
Moleküler |
Hypocalcemia, autosomal dominant 2 |
GNA11 |
İncele |
| 575 |
Moleküler |
Developmental and epileptic encephalopathy 17 |
GNAO1 |
İncele |
| 576 |
Moleküler |
Neurodevelopmental disorder with involuntary movements |
GNAO1 |
İncele |
| 577 |
Moleküler |
Capillary malformations, congenital, 1, somatic, mosaic |
GNAQ |
İncele |
| 578 |
Moleküler |
Sturge-Weber syndrome, somatic, mosaic |
GNAQ |
İncele |
| 579 |
Moleküler |
Pseudohypoparathyroidism Ia |
GNAS |
İncele |
| 580 |
Moleküler |
Osseous heteroplasia, progressive |
GNAS |
İncele |
| 581 |
Moleküler |
McCune-Albright syndrome, somatic, mosaic |
GNAS |
İncele |
| 582 |
Moleküler |
ACTH-independent macronodular adrenal hyperplasia |
GNAS |
İncele |
| 583 |
Moleküler |
Pseudohypoparathyroidism Ib |
GNAS |
İncele |
| 584 |
Moleküler |
Pseudohypoparathyroidism Ic |
GNAS |
İncele |
| 585 |
Moleküler |
Pseudopseudohypoparathyroidism |
GNAS |
İncele |
| 586 |
Moleküler |
Pituitary adenoma 3, multiple types, somatic |
GNAS |
İncele |
| 587 |
Moleküler |
Mucolipidosis II alpha/beta |
GNPTAB |
İncele |
| 588 |
Moleküler |
Mucolipidosis III alpha/beta |
GNPTAB |
İncele |
| 589 |
Moleküler |
Bernard-Soulier syndrome, type A2 (dominant) |
GP1BA |
İncele |
| 590 |
Moleküler |
von Willebrand disease, platelet-type |
GP1BA |
İncele |
| 591 |
Moleküler |
Bernard-Soulier syndrome, type A1 (recessive) |
GP1BA |
İncele |
| 592 |
Moleküler |
{Nonarteritic anterior ischemic optic neuropathy, susceptibility to} |
GP1BA |
İncele |
| 593 |
Moleküler |
Bernard-Soulier syndrome, type B |
GP1BB |
İncele |
| 594 |
Moleküler |
Giant platelet disorder, isolated |
GP1BB |
İncele |
| 595 |
Moleküler |
Wilms tumor, somatic |
GPC3 |
İncele |
| 596 |
Moleküler |
Simpson-Golabi-Behmel syndrome, type 1 |
GPC3 |
İncele |
| 597 |
Moleküler |
Ocular albinism, type I, Nettleship-Falls type |
GPR143 |
İncele |
| 598 |
Moleküler |
Nystagmus 6, congenital, X-linked |
GPR143 |
İncele |
| 599 |
Moleküler |
Hemolytic anemia due to glutathione synthetase deficiency |
GSS |
İncele |
| 600 |
Moleküler |
Glutathione synthetase deficiency |
GSS |
İncele |
| 601 |
Moleküler |
Leber congenital amaurosis 1 |
GUCY2D |
İncele |
| 602 |
Moleküler |
?Choroidal dystrophy, central areolar 1 |
GUCY2D |
İncele |
| 603 |
Moleküler |
Cone-rod dystrophy 6 |
GUCY2D |
İncele |
| 604 |
Moleküler |
Night blindness, congenital stationary, type 1I |
GUCY2D |
İncele |
| 605 |
Moleküler |
Glycogen storage disease 0, muscle |
GYS1 |
İncele |
| 606 |
Moleküler |
Glycogen storage disease 0, liver |
GYS2 |
İncele |
| 607 |
Moleküler |
Trifunctional protein deficiency |
HADHA |
İncele |
| 608 |
Moleküler |
Fatty liver, acute, of pregnancy |
HADHA |
İncele |
| 609 |
Moleküler |
HELLP syndrome, maternal, of pregnancy |
HADHA |
İncele |
| 610 |
Moleküler |
LCHAD deficiency |
HADHA |
İncele |
| 611 |
Moleküler |
Megalencephalic leukoencephalopathy with subcortical cysts 2A |
HEPACAM |
İncele |
| 612 |
Moleküler |
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation |
HEPACAM |
İncele |
| 613 |
Moleküler |
Growth hormone deficiency with pituitary anomalies |
HESX1 |
İncele |
| 614 |
Moleküler |
Pituitary hormone deficiency, combined, 5 |
HESX1 |
İncele |
| 615 |
Moleküler |
Septooptic dysplasia |
HESX1 |
İncele |
| 616 |
Moleküler |
Sandhoff disease, infantile, juvenile, and adult forms |
HEXB |
İncele |
| 617 |
Moleküler |
Holocarboxylase synthetase deficiency |
HLCS |
İncele |
| 618 |
Moleküler |
Porphyria, acute intermittent |
HMBS |
İncele |
| 619 |
Moleküler |
Porphyria, acute intermittent, nonerythroid variant |
HMBS |
İncele |
| 620 |
Moleküler |
HMG-CoA lyase deficiency |
HMGCL |
İncele |
| 621 |
Moleküler |
{Diabetes mellitus, noninsulin-dependent, 2} |
HNF1A |
İncele |
| 622 |
Moleküler |
Hepatic adenoma, somatic |
HNF1A |
İncele |
| 623 |
Moleküler |
Renal cell carcinoma |
HNF1A |
İncele |
| 624 |
Moleküler |
{Diabetes mellitus, insulin-dependent} |
HNF1A |
İncele |
| 625 |
Moleküler |
MODY, type III |
HNF1A |
İncele |
| 626 |
Moleküler |
Diabetes mellitus, insulin-dependent, 20 |
HNF1A |
İncele |
| 627 |
Moleküler |
Diabetes mellitus, noninsulin-dependent |
HNF1B |
İncele |
| 628 |
Moleküler |
Renal cysts and diabetes syndrome |
HNF1B |
İncele |
| 629 |
Moleküler |
{Renal cell carcinoma} |
HNF1B |
İncele |
| 630 |
Moleküler |
MODY, type I |
HNF4A |
İncele |
| 631 |
Moleküler |
{Diabetes mellitus, noninsulin-dependent} |
HNF4A |
İncele |
| 632 |
Moleküler |
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young |
HNF4A |
İncele |
| 633 |
Moleküler |
Brachydactyly, type D |
HOXD13 |
İncele |
| 634 |
Moleküler |
Brachydactyly, type E |
HOXD13 |
İncele |
| 635 |
Moleküler |
Synpolydactyly 1 |
HOXD13 |
İncele |
| 636 |
Moleküler |
Syndactyly, type V |
HOXD13 |
İncele |
| 637 |
Moleküler |
Brachydactyly-syndactyly syndrome |
HOXD13 |
İncele |
| 638 |
Moleküler |
Digital clubbing, isolated congenital |
HPGD |
İncele |
| 639 |
Moleküler |
Cranioosteoarthropathy |
HPGD |
İncele |
| 640 |
Moleküler |
Hypertrophic osteoarthropathy, primary, autosomal recessive 1 |
HPGD |
İncele |
| 641 |
Moleküler |
Lesch-Nyhan syndrome |
HPRT1 |
İncele |
| 642 |
Moleküler |
Hyperuricemia, HRPT-related |
HPRT1 |
İncele |
| 643 |
Moleküler |
Urofacial syndrome 1 |
HPSE2 |
İncele |
| 644 |
Moleküler |
Pseudohermaphroditism, male, with gynecomastia |
HSD17B3 |
İncele |
| 645 |
Moleküler |
Perrault syndrome 1 |
HSD17B4 |
İncele |
| 646 |
Moleküler |
D-bifunctional protein deficiency |
HSD17B4 |
İncele |
| 647 |
Moleküler |
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency |
HSD3B2 |
İncele |
| 648 |
Moleküler |
Hydrolethalus syndrome |
HYLS1 |
İncele |
| 649 |
Moleküler |
|
IFNAR1 |
İncele |
| 650 |
Moleküler |
Short-rib thoracic dysplasia 2 with or without polydactyly |
IFT80 |
İncele |
| 651 |
Moleküler |
Ectodermal dysplasia and immunodeficiency 1 |
IKBKG |
İncele |
| 652 |
Moleküler |
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency |
IKBKG |
İncele |
| 653 |
Moleküler |
Immunodeficiency, isolated |
IKBKG |
İncele |
| 654 |
Moleküler |
Immunodeficiency 33 |
IKBKG |
İncele |
| 655 |
Moleküler |
Invasive pneumococcal disease, recurrent isolated, 2 |
IKBKG |
İncele |
| 656 |
Moleküler |
Incontinentia pigmenti |
IKBKG |
İncele |
| 657 |
Moleküler |
Inflammatory bowel disease 28, early onset, autosomal recessive |
IL10RA |
İncele |
| 658 |
Moleküler |
{Hepatitis B virus, susceptibility to} |
IL10RB |
İncele |
| 659 |
Moleküler |
Inflammatory bowel disease 25, early onset, autosomal recessive |
IL10RB |
İncele |
| 660 |
Moleküler |
Diabetes mellitus, insulin-dependent, 2 |
INS |
İncele |
| 661 |
Moleküler |
Diabetes mellitus, permanent neonatal |
INS |
İncele |
| 662 |
Moleküler |
Maturity-onset diabetes of the young, type 10 |
INS |
İncele |
| 663 |
Moleküler |
Hyperproinsulinemia |
INS |
İncele |
| 664 |
Moleküler |
Leprechaunism |
INSR |
İncele |
| 665 |
Moleküler |
Rabson-Mendenhall syndrome |
INSR |
İncele |
| 666 |
Moleküler |
Hyperinsulinemic hypoglycemia, familial, 5 |
INSR |
İncele |
| 667 |
Moleküler |
Diabetes mellitus, insulin-resistant, with acanthosis nigricans |
INSR |
İncele |
| 668 |
Moleküler |
van der Woude syndrome |
IRF6 |
İncele |
| 669 |
Moleküler |
Popliteal pterygium syndrome 1 |
IRF6 |
İncele |
| 670 |
Moleküler |
{Orofacial cleft 6} |
IRF6 |
İncele |
| 671 |
Moleküler |
Immunodeficiency 39 |
IRF7 |
İncele |
| 672 |
Moleküler |
Immunodeficiency 65, susceptibility to viral infections |
IRF9 |
İncele |
| 673 |
Moleküler |
Bleeding disorder, platelet-type, 16, autosomal dominant |
ITGA2B |
İncele |
| 674 |
Moleküler |
Glanzmann thrombasthenia |
ITGA2B |
İncele |
| 675 |
Moleküler |
Thrombocytopenia, neonatal alloimmune, BAK antigen related |
ITGA2B |
İncele |
| 676 |
Moleküler |
Leukocyte adhesion deficiency |
ITGB2 |
İncele |
| 677 |
Moleküler |
Isovaleric acidemia |
IVD |
İncele |
| 678 |
Moleküler |
Alagille syndrome 1 |
JAG1 |
İncele |
| 679 |
Moleküler |
Tetralogy of Fallot |
JAG1 |
İncele |
| 680 |
Moleküler |
?Deafness, congenital heart defects, and posterior embryotoxon |
JAG1 |
İncele |
| 681 |
Moleküler |
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) |
KAL1(ANOS1) |
İncele |
| 682 |
Moleküler |
Jervell and Lange-Nielsen syndrome 2 |
KCNE1 |
İncele |
| 683 |
Moleküler |
Long QT syndrome 5 |
KCNE1 |
İncele |
| 684 |
Moleküler |
Bartter syndrome, type 2 |
KCNJ1 |
İncele |
| 685 |
Moleküler |
Enlarged vestibular aqueduct, digenic |
KCNJ10 |
İncele |
| 686 |
Moleküler |
SESAME syndrome |
KCNJ10 |
İncele |
| 687 |
Moleküler |
{Diabetes mellitus, type 2, susceptibility to} |
KCNJ11 |
İncele |
| 688 |
Moleküler |
Hyperinsulinemic hypoglycemia, familial, 2 |
KCNJ11 |
İncele |
| 689 |
Moleküler |
Diabetes, permanent neonatal, with or without neurologic features |
KCNJ11 |
İncele |
| 690 |
Moleküler |
Diabetes mellitus, transient neonatal, 3 |
KCNJ11 |
İncele |
| 691 |
Moleküler |
Maturity-onset diabetes of the young, type 13 |
KCNJ11 |
İncele |
| 692 |
Moleküler |
{Long QT syndrome 1, acquired, susceptibility to} |
KCNQ1 |
İncele |
| 693 |
Moleküler |
Long QT syndrome 1 |
KCNQ1 |
İncele |
| 694 |
Moleküler |
Jervell and Lange-Nielsen syndrome |
KCNQ1 |
İncele |
| 695 |
Moleküler |
Atrial fibrillation, familial, 3 |
KCNQ1 |
İncele |
| 696 |
Moleküler |
Short QT syndrome 2 |
KCNQ1 |
İncele |
| 697 |
Moleküler |
Deafness, autosomal dominant 2A |
KCNQ4 |
İncele |
| 698 |
Moleküler |
Cornea plana 2, autosomal recessive |
KERA |
İncele |
| 699 |
Moleküler |
Pheochromocytoma |
KIF1B |
İncele |
| 700 |
Moleküler |
{Neuroblastoma, susceptibility to, 1} |
KIF1B |
İncele |
| 701 |
Moleküler |
Mastocytosis, cutaneous |
KIT |
İncele |
| 702 |
Moleküler |
Mastocytosis, systemic, somatic |
KIT |
İncele |
| 703 |
Moleküler |
Piebaldism |
KIT |
İncele |
| 704 |
Moleküler |
Germ cell tumors, somatic |
KIT |
İncele |
| 705 |
Moleküler |
Leukemia, acute myeloid, somatic |
KIT |
İncele |
| 706 |
Moleküler |
Gastrointestinal stromal tumor, familial |
KIT |
İncele |
| 707 |
Moleküler |
Maturity-onset diabetes of the young, type VII |
KLF11 |
İncele |
| 708 |
Moleküler |
Pseudohypoaldosteronism, type IID |
KLHL3 |
İncele |
| 709 |
Moleküler |
Kabuki syndrome 1 |
KMT2D |
İncele |
| 710 |
Moleküler |
Epidermolytic hyperkeratosis |
KRT1 |
İncele |
| 711 |
Moleküler |
Palmoplantar keratoderma, epidermolytic |
KRT1 |
İncele |
| 712 |
Moleküler |
Ichthyosis histrix, Curth-Macklin type |
KRT1 |
İncele |
| 713 |
Moleküler |
Palmoplantar keratoderma, nonepidermolytic |
KRT1 |
İncele |
| 714 |
Moleküler |
Ichthyosis, cyclic, with epidermolytic hyperkeratosis |
KRT1 |
İncele |
| 715 |
Moleküler |
Keratosis palmoplantaris striata III |
KRT1 |
İncele |
| 716 |
Moleküler |
Dermatopathia pigmentosa reticularis |
KRT14 |
İncele |
| 717 |
Moleküler |
Epidermolysis bullosa simplex, Dowling-Meara type |
KRT14 |
İncele |
| 718 |
Moleküler |
Epidermolysis bullosa simplex, Weber-Cockayne type |
KRT14 |
İncele |
| 719 |
Moleküler |
Epidermolysis bullosa simplex, Koebner type |
KRT14 |
İncele |
| 720 |
Moleküler |
Naegeli-Franceschetti-Jadassohn syndrome |
KRT14 |
İncele |
| 721 |
Moleküler |
Epidermolysis bullosa simplex, recessive 1 |
KRT14 |
İncele |
| 722 |
Moleküler |
Epidermolysis bullosa simplex, Dowling-Meara type |
KRT5 |
İncele |
| 723 |
Moleküler |
Epidermolysis bullosa simplex, Weber-Cockayne type |
KRT5 |
İncele |
| 724 |
Moleküler |
Epidermolysis bullosa simplex, Koebner type |
KRT5 |
İncele |
| 725 |
Moleküler |
Epidermolysis bullosa simplex-MP |
KRT5 |
İncele |
| 726 |
Moleküler |
Dowling-Degos disease 1 |
KRT5 |
İncele |
| 727 |
Moleküler |
Epidermolysis bullosa simplex, recessive 1 |
KRT5 |
İncele |
| 728 |
Moleküler |
Epidermolysis bullosa simplex-MCR |
KRT5 |
İncele |
| 729 |
Moleküler |
Palmoplantar keratoderma, epidermolytic |
KRT9 |
İncele |
| 730 |
Moleküler |
Coronary artery disease |
KSR2 |
İncele |
| 731 |
Moleküler |
CRASH syndrome |
L1CAM |
İncele |
| 732 |
Moleküler |
MASA syndrome |
L1CAM |
İncele |
| 733 |
Moleküler |
Corpus callosum, partial agenesis of |
L1CAM |
İncele |
| 734 |
Moleküler |
Hydrocephalus due to aqueductal stenosis |
L1CAM |
İncele |
| 735 |
Moleküler |
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction |
L1CAM |
İncele |
| 736 |
Moleküler |
Hydrocephalus with Hirschsprung disease |
L1CAM |
İncele |
| 737 |
Moleküler |
L-2-hydroxyglutaric aciduria |
L2HGDH |
İncele |
| 738 |
Moleküler |
Pierson syndrome |
LAMB2 |
İncele |
| 739 |
Moleküler |
Nephrotic syndrome, type 5, with or without ocular abnormalities |
LAMB2 |
İncele |
| 740 |
Moleküler |
Amelogenesis imperfecta, type IA |
LAMB3 |
İncele |
| 741 |
Moleküler |
Epidermolysis bullosa, junctional, non-Herlitz type |
LAMB3 |
İncele |
| 742 |
Moleküler |
Epidermolysis bullosa, junctional, Herlitz type |
LAMB3 |
İncele |
| 743 |
Moleküler |
Wilson-Turner syndrome |
LAS1L |
İncele |
| 744 |
Moleküler |
Hypercholesterolemia, familial, 1 |
LDLR |
İncele |
| 745 |
Moleküler |
LDL cholesterol level QTL2 |
LDLR |
İncele |
| 746 |
Moleküler |
Buschke-Ollendorff syndrome |
LEMD3 |
İncele |
| 747 |
Moleküler |
Osteopoikilosis with or without melorheostosis |
LEMD3 |
İncele |
| 748 |
Moleküler |
Obesity, morbid, due to leptin deficiency |
LEP |
İncele |
| 749 |
Moleküler |
Obesity, morbid, due to leptin receptor deficiency |
LEPR |
İncele |
| 750 |
Moleküler |
Hypogonadotropic hypogonadism 23 with or without anosmia |
LHB |
İncele |
| 751 |
Moleküler |
Leydig cell adenoma, somatic, with precocious puberty |
LHCGR |
İncele |
| 752 |
Moleküler |
Precocious puberty, male |
LHCGR |
İncele |
| 753 |
Moleküler |
Leydig cell hypoplasia with hypergonadotropic hypogonadism |
LHCGR |
İncele |
| 754 |
Moleküler |
Leydig cell hypoplasia with pseudohermaphroditism |
LHCGR |
İncele |
| 755 |
Moleküler |
Luteinizing hormone resistance, female |
LHCGR |
İncele |
| 756 |
Moleküler |
Stuve-Wiedemann syndrome+Schwartz-Jampel type 2 syndrome |
LIFR |
İncele |
| 757 |
Moleküler |
Cholesteryl ester storage disease |
LIPA |
İncele |
| 758 |
Moleküler |
Wolman disease |
LIPA |
İncele |
| 759 |
Moleküler |
Hypertriglyceridemia, Familial and Hyperlipoproteinemia, Type Iv |
LIPI |
İncele |
| 760 |
Moleküler |
Laurin-Sandrow syndrome |
LMBR1 |
İncele |
| 761 |
Moleküler |
Polydactyly, preaxial type II |
LMBR1 |
İncele |
| 762 |
Moleküler |
Triphalangeal thumb, type I |
LMBR1 |
İncele |
| 763 |
Moleküler |
Triphalangeal thumb-polysyndactyly syndrome |
LMBR1 |
İncele |
| 764 |
Moleküler |
Syndactyly, type IV |
LMBR1 |
İncele |
| 765 |
Moleküler |
Hypoplastic or aplastic tibia with polydactyly |
LMBR1 |
İncele |
| 766 |
Moleküler |
Acheiropody |
LMBR1 |
İncele |
| 767 |
Moleküler |
Cardiomyopathy, dilated, 1A |
LMNA |
İncele |
| 768 |
Moleküler |
Lipodystrophy, familial partial, type 2 |
LMNA |
İncele |
| 769 |
Moleküler |
Hutchinson-Gilford progeria |
LMNA |
İncele |
| 770 |
Moleküler |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
LMNA |
İncele |
| 771 |
Moleküler |
Malouf syndrome |
LMNA |
İncele |
| 772 |
Moleküler |
Mandibuloacral dysplasia |
LMNA |
İncele |
| 773 |
Moleküler |
Restrictive dermopathy, lethal |
LMNA |
İncele |
| 774 |
Moleküler |
Heart-hand syndrome, Slovenian type |
LMNA |
İncele |
| 775 |
Moleküler |
Muscular dystrophy, congenital |
LMNA |
İncele |
| 776 |
Moleküler |
Emery-Dreifuss muscular dystrophy 3, autosomal recessive |
LMNA |
İncele |
| 777 |
Moleküler |
Myoglobinuria, acute recurrent, autosomal recessive |
LPIN1 |
İncele |
| 778 |
Moleküler |
Majeed syndrome |
LPIN2 |
İncele |
| 779 |
Moleküler |
Urofacial syndrome 2 |
LRIG2 |
İncele |
| 780 |
Moleküler |
{Parkinson disease 8} |
LRRK2 |
İncele |
| 781 |
Moleküler |
Chediak-Higashi syndrome |
LYST |
İncele |
| 782 |
Moleküler |
Noonan syndrome 2 |
LZTR1 |
İncele |
| 783 |
Moleküler |
{Schwannomatosis-2, susceptibility to} |
LZTR1 |
İncele |
| 784 |
Moleküler |
Noonan syndrome 10 |
LZTR1 |
İncele |
| 785 |
Moleküler |
Mannosidosis, alpha-, types I and II |
MAN2B1 |
İncele |
| 786 |
Moleküler |
46XY sex reversal 6 |
MAP3K1 |
İncele |
| 787 |
Moleküler |
{Obesity, resistence to (BMIQ20)} |
MC4R |
İncele |
| 788 |
Moleküler |
Obesity (BMIQ20) |
MC4R |
İncele |
| 789 |
Moleküler |
3-Methylcrotonyl-CoA carboxylase 1 deficiency |
MCCC1 |
İncele |
| 790 |
Moleküler |
3-Methylcrotonyl-CoA carboxylase 2 deficiency |
MCCC2 |
İncele |
| 791 |
Moleküler |
Microcephaly 1, primary, autosomal recessive |
MCPH1 |
İncele |
| 792 |
Moleküler |
Waardenburg syndrome/ocular albinism, digenic |
MITF |
İncele |
| 793 |
Moleküler |
Tietz albinism-deafness syndrome |
MITF |
İncele |
| 794 |
Moleküler |
Waardenburg syndrome, type 2A |
MITF |
İncele |
| 795 |
Moleküler |
{Melanoma, cutaneous malignant, susceptibility to, 8} |
MITF |
İncele |
| 796 |
Moleküler |
COMMAD syndrome |
MITF |
İncele |
| 797 |
Moleküler |
Precocious puberty, central, 2 |
MKRN3 |
İncele |
| 798 |
Moleküler |
Meckel syndrome 1 |
MKS1 |
İncele |
| 799 |
Moleküler |
Bardet-Biedl syndrome 13 |
MKS1 |
İncele |
| 800 |
Moleküler |
Joubert syndrome 28 |
MKS1 |
İncele |
| 801 |
Moleküler |
Megalencephalic leukoencephalopathy with subcortical cysts |
MLC1 |
İncele |
| 802 |
Moleküler |
Muir-Torre syndrome |
MLH1 |
İncele |
| 803 |
Moleküler |
Mismatch repair cancer syndrome |
MLH1 |
İncele |
| 804 |
Moleküler |
Colorectal cancer, hereditary nonpolyposis, type 2 |
MLH1 |
İncele |
| 805 |
Moleküler |
Methylmalonic aciduria, vitamin B12-responsive, cblB type |
MMAB |
İncele |
| 806 |
Moleküler |
Methylmalonic aciduria, mut(0) type |
MMUT(MUT) |
İncele |
| 807 |
Moleküler |
Molybdenum cofactor deficiency A |
MOCS1 |
İncele |
| 808 |
Moleküler |
Molybdenum cofactor deficiency B |
MOCS2 |
İncele |
| 809 |
Moleküler |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
MPV17 |
İncele |
| 810 |
Moleküler |
Dejerine-Sottas disease |
MPZ |
İncele |
| 811 |
Moleküler |
Roussy-Levy syndrome |
MPZ |
İncele |
| 812 |
Moleküler |
Hypomyelinating neuropathy, congenital, 2 |
MPZ |
İncele |
| 813 |
Moleküler |
Colorectal cancer, hereditary nonpolyposis, type 1 |
MSH2 |
İncele |
| 814 |
Moleküler |
Muir-Torre syndrome |
MSH2 |
İncele |
| 815 |
Moleküler |
Mismatch repair cancer syndrome |
MSH2 |
İncele |
| 816 |
Moleküler |
Mismatch repair cancer syndrome |
MSH6 |
İncele |
| 817 |
Moleküler |
{Endometrial cancer, familial} |
MSH6 |
İncele |
| 818 |
Moleküler |
Colorectal cancer, hereditary nonpolyposis, type 5 |
MSH6 |
İncele |
| 819 |
Moleküler |
Basilicata-Akhtar syndrome |
MSL3 |
İncele |
| 820 |
Moleküler |
Tooth agenesis, selective, 1, with or without orofacial cleft |
MSX1 |
İncele |
| 821 |
Moleküler |
Ectodermal dysplasia 3, Witkop type |
MSX1 |
İncele |
| 822 |
Moleküler |
Orofacial cleft 5 |
MSX1 |
İncele |
| 823 |
Moleküler |
Parietal foramina 1 |
MSX2 |
İncele |
| 824 |
Moleküler |
Parietal foramina with cleidocranial dysplasia |
MSX2 |
İncele |
| 825 |
Moleküler |
Craniosynostosis 2 |
MSX2 |
İncele |
| 826 |
Moleküler |
Homocystinuria-megaloblastic anemia, cblG complementation type |
MTR |
İncele |
| 827 |
Moleküler |
{Neural tube defects, folate-sensitive, susceptibility to} |
MTR |
İncele |
| 828 |
Moleküler |
Homocystinuria-megaloblastic anemia, cbl E type |
MTRR |
İncele |
| 829 |
Moleküler |
{Neural tube defects, folate-sensitive, susceptibility to} |
MTRR |
İncele |
| 830 |
Moleküler |
Abetalipoproteinemia |
MTTP |
İncele |
| 831 |
Moleküler |
{Metabolic syndrome, protection against} |
MTTP |
İncele |
| 832 |
Moleküler |
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |
MUTYH |
İncele |
| 833 |
Moleküler |
Adenomas, multiple colorectal |
MUTYH |
İncele |
| 834 |
Moleküler |
Gastric cancer, somatic |
MUTYH |
İncele |
| 835 |
Moleküler |
Porokeratosis 3, multiple types |
MVK |
İncele |
| 836 |
Moleküler |
Hyper-IgD syndrome |
MVK |
İncele |
| 837 |
Moleküler |
Mevalonic aciduria |
MVK |
İncele |
| 838 |
Moleküler |
Feingold syndrome 1 |
MYCN |
İncele |
| 839 |
Moleküler |
Macroglobulinemia, Waldenstrom, somatic |
MYD88 |
İncele |
| 840 |
Moleküler |
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency |
MYD88 |
İncele |
| 841 |
Moleküler |
Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A |
MYH3 |
İncele |
| 842 |
Moleküler |
Arthrogryposis, distal, type 2A (Freeman-Sheldon) |
MYH3 |
İncele |
| 843 |
Moleküler |
Arthrogryposis, distal, type 2B3 (Sheldon-Hall) |
MYH3 |
İncele |
| 844 |
Moleküler |
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B |
MYH3 |
İncele |
| 845 |
Moleküler |
Laing distal myopathy |
MYH7 |
İncele |
| 846 |
Moleküler |
Scapuloperoneal syndrome, myopathic type |
MYH7 |
İncele |
| 847 |
Moleküler |
Cardiomyopathy, hypertrophic, 1 |
MYH7 |
İncele |
| 848 |
Moleküler |
Myopathy, myosin storage, autosomal recessive |
MYH7 |
İncele |
| 849 |
Moleküler |
Myopathy, myosin storage, autosomal dominant |
MYH7 |
İncele |
| 850 |
Moleküler |
Cardiomyopathy, dilated, 1S |
MYH7 |
İncele |
| 851 |
Moleküler |
Left ventricular noncompaction 5 |
MYH7 |
İncele |
| 852 |
Moleküler |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
MYH9 |
İncele |
| 853 |
Moleküler |
Deafness, autosomal dominant 17 |
MYH9 |
İncele |
| 854 |
Moleküler |
Microvillus inclusion disease |
MYO5B |
İncele |
| 855 |
Moleküler |
Usher syndrome, type 1B |
MYO7A |
İncele |
| 856 |
Moleküler |
Deafness, autosomal recessive 2 |
MYO7A |
İncele |
| 857 |
Moleküler |
Deafness, autosomal dominant 11 |
MYO7A |
İncele |
| 858 |
Moleküler |
Mucopolysaccharidosis type IIIB (Sanfilippo B) |
NAGLU |
İncele |
| 859 |
Moleküler |
N-acetylglutamate synthase deficiency |
NAGS |
İncele |
| 860 |
Moleküler |
Nijmegen breakage syndrome |
NBN |
İncele |
| 861 |
Moleküler |
Aplastic anemia |
NBN |
İncele |
| 862 |
Moleküler |
Leukemia, acute lymphoblastic |
NBN |
İncele |
| 863 |
Moleküler |
Chronic granulomatous disease due to deficiency of NCF-1 |
NCF1 |
İncele |
| 864 |
Moleküler |
Mitochondrial complex I deficiency, nuclear type 4 |
NDUFV1 |
İncele |
| 865 |
Moleküler |
{Diabetes mellitus, noninsulin-dependent} |
NEUROD1 |
İncele |
| 866 |
Moleküler |
Maturity-onset diabetes of the young 6 |
NEUROD1 |
İncele |
| 867 |
Moleküler |
Epilepsy, progressive myoclonic 2B (Lafora) |
NHLRC1 |
İncele |
| 868 |
Moleküler |
Cataract 40, X-linked |
NHS |
İncele |
| 869 |
Moleküler |
Nance-Horan syndrome |
NHS |
İncele |
| 870 |
Moleküler |
Cornelia de Lange syndrome 1 |
NIPBL |
İncele |
| 871 |
Moleküler |
{Autism susceptibility, X-linked 1} |
NLGN3 |
İncele |
| 872 |
Moleküler |
{Asperger syndrome susceptibility, X-linked 1} |
NLGN3 |
İncele |
| 873 |
Moleküler |
{Autism susceptibility, X-linked 2} |
NLGN4X |
İncele |
| 874 |
Moleküler |
Mental retardation, X-linked |
NLGN4X |
İncele |
| 875 |
Moleküler |
{Asperger syndrome susceptibility, X-linked 2} |
NLGN4X |
İncele |
| 876 |
Moleküler |
{Vitiligo-associated multiple autoimmune disease susceptibility 1} |
NLRP1 |
İncele |
| 877 |
Moleküler |
Palmoplantar carcinoma, multiple self-healing |
NLRP1 |
İncele |
| 878 |
Moleküler |
Autoinflammation with arthritis and dyskeratosis |
NLRP1 |
İncele |
| 879 |
Moleküler |
?Respiratory papillomatosis, juvenile recurrent, congenital |
NLRP1 |
İncele |
| 880 |
Moleküler |
Familial cold inflammatory syndrome 1 |
NLRP3 |
İncele |
| 881 |
Moleküler |
Keratoendothelitis fugax hereditaria |
NLRP3 |
İncele |
| 882 |
Moleküler |
Muckle-Wells syndrome |
NLRP3 |
İncele |
| 883 |
Moleküler |
CINCA syndrome |
NLRP3 |
İncele |
| 884 |
Moleküler |
Deafness, autosomal dominant 34, with or without inflammation |
NLRP3 |
İncele |
| 885 |
Moleküler |
Blau syndrome |
NOD2 |
İncele |
| 886 |
Moleküler |
{Inflammatory bowel disease 1, Crohn disease} |
NOD2 |
İncele |
| 887 |
Moleküler |
{Psoriatic arthritis, susceptibility to} |
NOD2 |
İncele |
| 888 |
Moleküler |
{Yao syndrome} |
NOD2 |
İncele |
| 889 |
Moleküler |
Hajdu-Cheney syndrome |
NOTCH2 |
İncele |
| 890 |
Moleküler |
Alagille syndrome 2 |
NOTCH2 |
İncele |
| 891 |
Moleküler |
Niemann-Pick disease, type C1 |
NPC1 |
İncele |
| 892 |
Moleküler |
Niemann-Pick disease, type D |
NPC1 |
İncele |
| 893 |
Moleküler |
Niemann-pick disease, type C2 |
NPC2 |
İncele |
| 894 |
Moleküler |
Nephronophthisis 1, juvenile |
NPHP1 |
İncele |
| 895 |
Moleküler |
Senior-Loken syndrome-1 |
NPHP1 |
İncele |
| 896 |
Moleküler |
Joubert syndrome 4 |
NPHP1 |
İncele |
| 897 |
Moleküler |
Nephrotic syndrome, type 1 |
NPHS1 |
İncele |
| 898 |
Moleküler |
Nephrotic syndrome, type 2 |
NPHS2 |
İncele |
| 899 |
Moleküler |
46XY sex reversal 2, dosage-sensitive |
NR0B1 |
İncele |
| 900 |
Moleküler |
Adrenal hypoplasia, congenital |
NR0B1 |
İncele |
| 901 |
Moleküler |
Pseudohypoaldosteronism type I, autosomal dominant |
NR0B1 |
İncele |
| 902 |
Moleküler |
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy |
NR3C2 |
İncele |
| 903 |
Moleküler |
Sotos syndrome 1 |
NSD1 |
İncele |
| 904 |
Moleküler |
Leukemia, acute myeloid |
NSD1 |
İncele |
| 905 |
Moleküler |
Insensitivity to pain, congenital, with anhidrosis |
NTRK1 |
İncele |
| 906 |
Moleküler |
Gyrate atrophy of choroid and retina with or without ornithinemia |
OAT |
İncele |
| 907 |
Moleküler |
3-M syndrome 2 |
OBSL1 |
İncele |
| 908 |
Moleküler |
Albinism, brown oculocutaneous |
OCA2 |
İncele |
| 909 |
Moleküler |
Albinism, oculocutaneous, type II |
OCA2 |
İncele |
| 910 |
Moleküler |
[Skin+hair+eye pigmentation 1, blond+brown hair] |
OCA2 |
İncele |
| 911 |
Moleküler |
[Skin+hair+eye pigmentation 1, blue+nonblue eyes] |
OCA2 |
İncele |
| 912 |
Moleküler |
Optic atrophy plus syndrome |
OPA1 |
İncele |
| 913 |
Moleküler |
Optic atrophy 1 |
OPA1 |
İncele |
| 914 |
Moleküler |
Behr syndrome |
OPA1 |
İncele |
| 915 |
Moleküler |
{Glaucoma, normal tension, susceptibility to} |
OPA1 |
İncele |
| 916 |
Moleküler |
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) |
OPA1 |
İncele |
| 917 |
Moleküler |
Ornithine transcarbamylase deficiency |
OTC |
İncele |
| 918 |
Moleküler |
Succinyl CoA:3-oxoacid CoA transferase deficiency |
OXCT1 |
İncele |
| 919 |
Moleküler |
Osteogenesis imperfecta, type VIII |
P3H1 |
İncele |
| 920 |
Moleküler |
Lissencephaly 1 |
PAFAH1B1 |
İncele |
| 921 |
Moleküler |
Subcortical laminar heterotopia |
PAFAH1B1 |
İncele |
| 922 |
Moleküler |
Neurodegeneration with brain iron accumulation 1 |
PANK2 |
İncele |
| 923 |
Moleküler |
HARP syndrome |
PANK2 |
İncele |
| 924 |
Moleküler |
Papillorenal syndrome |
PAX2 |
İncele |
| 925 |
Moleküler |
Glomerulosclerosis, focal segmental, 7 |
PAX2 |
İncele |
| 926 |
Moleküler |
Craniofacial-deafness-hand syndrome |
PAX3 |
İncele |
| 927 |
Moleküler |
Waardenburg syndrome, type 3 |
PAX3 |
İncele |
| 928 |
Moleküler |
Waardenburg syndrome, type 1 |
PAX3 |
İncele |
| 929 |
Moleküler |
Rhabdomyosarcoma 2, alveolar |
PAX3 |
İncele |
| 930 |
Moleküler |
Diabetes mellitus, type 2 |
PAX4 |
İncele |
| 931 |
Moleküler |
Maturity-onset diabetes of the young, type IX |
PAX4 |
İncele |
| 932 |
Moleküler |
{Diabetes mellitus, ketosis-prone, susceptibility to} |
PAX4 |
İncele |
| 933 |
Moleküler |
Aniridia |
PAX6 |
İncele |
| 934 |
Moleküler |
Cataract with late-onset corneal dystrophy |
PAX6 |
İncele |
| 935 |
Moleküler |
?Coloboma, ocular |
PAX6 |
İncele |
| 936 |
Moleküler |
?Coloboma of optic nerve |
PAX6 |
İncele |
| 937 |
Moleküler |
?Morning glory disc anomaly |
PAX6 |
İncele |
| 938 |
Moleküler |
Foveal hypoplasia 1 |
PAX6 |
İncele |
| 939 |
Moleküler |
Keratitis |
PAX6 |
İncele |
| 940 |
Moleküler |
Optic nerve hypoplasia |
PAX6 |
İncele |
| 941 |
Moleküler |
Anterior segment dysgenesis 5, multiple subtypes |
PAX6 |
İncele |
| 942 |
Moleküler |
Tooth agenesis, selective, 3 |
PAX9 |
İncele |
| 943 |
Moleküler |
Pyruvate carboxylase deficiency |
PC |
İncele |
| 944 |
Moleküler |
Propionicacidemia |
PCCA |
İncele |
| 945 |
Moleküler |
Propionicacidemia |
PCCB |
İncele |
| 946 |
Moleküler |
Epileptic encephalopathy, early infantile, 9 |
PCDH19 |
İncele |
| 947 |
Moleküler |
{Low density lipoprotein cholesterol level QTL 1} |
PCSK9 |
İncele |
| 948 |
Moleküler |
Hypercholesterolemia, familial, 3 |
PCSK9 |
İncele |
| 949 |
Moleküler |
Multiple sclerosis, disease progression, modifier of |
PDCD1 |
İncele |
| 950 |
Moleküler |
Systemic lupus erythematosus, susceptibility to, 2} |
PDCD1 |
İncele |
| 951 |
Moleküler |
Striatal degeneration, autosomal dominant |
PDE8B |
İncele |
| 952 |
Moleküler |
Pigmented nodular adrenocortical disease, primary, 3 |
PDE8B |
İncele |
| 953 |
Moleküler |
Gastrointestinal stromal tumor, somatic or familial |
PDGFRA |
İncele |
| 954 |
Moleküler |
Hypereosinophilic syndrome, idiopathic, resistant to imatinib |
PDGFRA |
İncele |
| 955 |
Moleküler |
Myeloproliferative disorder with eosinophilia |
PDGFRB |
İncele |
| 956 |
Moleküler |
Myofibromatosis, infantile, 1 |
PDGFRB |
İncele |
| 957 |
Moleküler |
Premature aging syndrome, Penttinen type |
PDGFRB |
İncele |
| 958 |
Moleküler |
Basal ganglia calcification, idiopathic, 4 |
PDGFRB |
İncele |
| 959 |
Moleküler |
Kosaki overgrowth syndrome |
PDGFRB |
İncele |
| 960 |
Moleküler |
{Diabetes mellitus, type II, susceptibility to} |
PDX1 |
İncele |
| 961 |
Moleküler |
{Diabetes mellitus, type II, susceptibility to} |
PDX1 |
İncele |
| 962 |
Moleküler |
Pancreatic agenesis 1 |
PDX1 |
İncele |
| 963 |
Moleküler |
Pancreatic agenesis 1 |
PDX1 |
İncele |
| 964 |
Moleküler |
MODY, type IV |
PDX1 |
İncele |
| 965 |
Moleküler |
MODY, type IV |
PDX1 |
İncele |
| 966 |
Moleküler |
Peroxisome biogenesis disorder 1A (Zellweger) |
PEX1 |
İncele |
| 967 |
Moleküler |
Heimler syndrome 1 |
PEX1 |
İncele |
| 968 |
Moleküler |
Peroxisome biogenesis disorder 1B (NALD+IRD) |
PEX1 |
İncele |
| 969 |
Moleküler |
Rhizomelic chondrodysplasia punctata, type 1 |
PEX7 |
İncele |
| 970 |
Moleküler |
Peroxisome biogenesis disorder 9B |
PEX7 |
İncele |
| 971 |
Moleküler |
Immunodeficiency 23 |
PGM3 |
İncele |
| 972 |
Moleküler |
Hypophosphatemic rickets, X-linked dominant |
PHEX |
İncele |
| 973 |
Moleküler |
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease |
PHOX2B |
İncele |
| 974 |
Moleküler |
{Neuroblastoma, susceptibility to, 2} |
PHOX2B |
İncele |
| 975 |
Moleküler |
Neuroblastoma with Hirschsprung disease |
PHOX2B |
İncele |
| 976 |
Moleküler |
Arthrogryposis, distal, type 5 |
PIEZO2 |
İncele |
| 977 |
Moleküler |
Arthrogryposis, distal, type 3 |
PIEZO2 |
İncele |
| 978 |
Moleküler |
Marden-Walker syndrome |
PIEZO2 |
İncele |
| 979 |
Moleküler |
Arthrogryposis, distal, with impaired proprioception and touch |
PIEZO2 |
İncele |
| 980 |
Moleküler |
Epileptic encephalopathy, early infantile, 80 |
PIGB |
İncele |
| 981 |
Moleküler |
Hyperphosphatasia with mental retardation syndrome 1 |
PIGV |
İncele |
| 982 |
Moleküler |
Breast cancer, somatic |
PIK3CA |
İncele |
| 983 |
Moleküler |
Colorectal cancer, somatic |
PIK3CA |
İncele |
| 984 |
Moleküler |
Hepatocellular carcinoma, somatic |
PIK3CA |
İncele |
| 985 |
Moleküler |
Macrodactyly, somatic |
PIK3CA |
İncele |
| 986 |
Moleküler |
Nevus, epidermal, somatic |
PIK3CA |
İncele |
| 987 |
Moleküler |
Ovarian cancer, somatic |
PIK3CA |
İncele |
| 988 |
Moleküler |
Keratosis, seborrheic, somatic |
PIK3CA |
İncele |
| 989 |
Moleküler |
Nonsmall cell lung cancer, somatic |
PIK3CA |
İncele |
| 990 |
Moleküler |
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic |
PIK3CA |
İncele |
| 991 |
Moleküler |
CLOVE syndrome, somatic |
PIK3CA |
İncele |
| 992 |
Moleküler |
CLAPO syndrome, somatic |
PIK3CA |
İncele |
| 993 |
Moleküler |
Gastric cancer, somatic |
PIK3CA |
İncele |
| 994 |
Moleküler |
Cowden syndrome 5 |
PIK3CA |
İncele |
| 995 |
Moleküler |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
PIK3R2 |
İncele |
| 996 |
Moleküler |
Anterior segment dysgenesis 4 |
PITX2 |
İncele |
| 997 |
Moleküler |
Axenfeld-Rieger syndrome, type 1 |
PITX2 |
İncele |
| 998 |
Moleküler |
Ring dermoid of cornea |
PITX2 |
İncele |
| 999 |
Moleküler |
Polycystic kidney disease 2 |
PKD2 |
İncele |
| 1000 |
Moleküler |
Polycystic kidney disease 4, with or without hepatic disease |
PKHD1 |
İncele |
| 1001 |
Moleküler |
Infantile neuroaxonal dystrophy 1 |
PLA2G6 |
İncele |
| 1002 |
Moleküler |
Neurodegeneration with brain iron accumulation 2B |
PLA2G6 |
İncele |
| 1003 |
Moleküler |
Parkinson disease 14, autosomal recessive |
PLA2G6 |
İncele |
| 1004 |
Moleküler |
Epidermolysis bullosa simplex 5A, Ogna type |
PLEC |
İncele |
| 1005 |
Moleküler |
Epidermolysis bullosa simplex 5B, with muscular dystrophy |
PLEC |
İncele |
| 1006 |
Moleküler |
Epidermolysis bullosa simplex 5C, with pyloric atresia |
PLEC |
İncele |
| 1007 |
Moleküler |
Muscular dystrophy, limb-girdle, autosomal recessive 17 |
PLEC |
İncele |
| 1008 |
Moleküler |
?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive |
PLEC |
İncele |
| 1009 |
Moleküler |
Dysplasminogenemia |
PLG |
İncele |
| 1010 |
Moleküler |
Plasminogen deficiency, type I |
PLG |
İncele |
| 1011 |
Moleküler |
Pelizaeus-Merzbacher disease |
PLP1 |
İncele |
| 1012 |
Moleküler |
Spastic paraplegia 2, X-linked |
PLP1 |
İncele |
| 1013 |
Moleküler |
?Neuropathy, inflammatory demyelinating |
PMP22 |
İncele |
| 1014 |
Moleküler |
Dejerine-Sottas disease |
PMP22 |
İncele |
| 1015 |
Moleküler |
Neuropathy, recurrent, with pressure palsies |
PMP22 |
İncele |
| 1016 |
Moleküler |
Roussy-Levy syndrome |
PMP22 |
İncele |
| 1017 |
Moleküler |
Mismatch repair cancer syndrome |
PMS2 |
İncele |
| 1018 |
Moleküler |
Colorectal cancer, hereditary nonpolyposis, type 4 |
PMS2 |
İncele |
| 1019 |
Moleküler |
White-Sutton syndrome |
POGZ |
İncele |
| 1020 |
Moleküler |
Progressive external ophthalmoplegia, autosomal dominant 1 |
POLG |
İncele |
| 1021 |
Moleküler |
Mitochondrial DNA depletion syndrome 4A (Alpers type) |
POLG |
İncele |
| 1022 |
Moleküler |
Progressive external ophthalmoplegia, autosomal recessive 1 |
POLG |
İncele |
| 1023 |
Moleküler |
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) |
POLG |
İncele |
| 1024 |
Moleküler |
Mitochondrial DNA depletion syndrome 4B (MNGIE type) |
POLG |
İncele |
| 1025 |
Moleküler |
{Obesity, early-onset, susceptibility to} |
POMC |
İncele |
| 1026 |
Moleküler |
Obesity, adrenal insufficiency, and red hair due to POMC deficiency |
POMC |
İncele |
| 1027 |
Moleküler |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 |
POMGNT1 |
İncele |
| 1028 |
Moleküler |
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 |
POMGNT1 |
İncele |
| 1029 |
Moleküler |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 |
POMT1 |
İncele |
| 1030 |
Moleküler |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 |
POMT1 |
İncele |
| 1031 |
Moleküler |
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 |
POMT1 |
İncele |
| 1032 |
Moleküler |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
POR |
İncele |
| 1033 |
Moleküler |
Disordered steroidogenesis due to cytochrome P450 oxidoreductase |
POR |
İncele |
| 1034 |
Moleküler |
Ceroid lipofuscinosis, neuronal, 1 |
PPT1 |
İncele |
| 1035 |
Moleküler |
Hemophagocytic lymphohistiocytosis, familial, 2 |
PRF1 |
İncele |
| 1036 |
Moleküler |
Lymphoma, non-Hodgkin |
PRF1 |
İncele |
| 1037 |
Moleküler |
Aplastic anemia |
PRF1 |
İncele |
| 1038 |
Moleküler |
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
PRG4 |
İncele |
| 1039 |
Moleküler |
Wolff-Parkinson-White syndrome |
PRKAG2 |
İncele |
| 1040 |
Moleküler |
Glycogen storage disease of heart, lethal congenital |
PRKAG2 |
İncele |
| 1041 |
Moleküler |
Cardiomyopathy, hypertrophic 6 |
PRKAG2 |
İncele |
| 1042 |
Moleküler |
Ovarian cancer, somatic |
PRKN |
İncele |
| 1043 |
Moleküler |
Adenocarcinoma of lung, somatic |
PRKN |
İncele |
| 1044 |
Moleküler |
Parkinson disease, juvenile, type 2 |
PRKN |
İncele |
| 1045 |
Moleküler |
Thrombophilia due to protein C deficiency, autosomal dominant |
PROC |
İncele |
| 1046 |
Moleküler |
Thrombophilia due to protein C deficiency, autosomal recessive |
PROC |
İncele |
| 1047 |
Moleküler |
Hyperprolinemia, type I |
PRODH |
İncele |
| 1048 |
Moleküler |
{Schizophrenia, susceptibility to, 4} |
PRODH |
İncele |
| 1049 |
Moleküler |
Hypogonadotropic hypogonadism 4 with or without anosmia |
PROK2 |
İncele |
| 1050 |
Moleküler |
Stargardt disease 4 |
PROM1 |
İncele |
| 1051 |
Moleküler |
Macular dystrophy, retinal, 2 |
PROM1 |
İncele |
| 1052 |
Moleküler |
Retinitis pigmentosa 41 |
PROM1 |
İncele |
| 1053 |
Moleküler |
Cone-rod dystrophy 12 |
PROM1 |
İncele |
| 1054 |
Moleküler |
Pituitary hormone deficiency, combined, 2 |
PROP1 |
İncele |
| 1055 |
Moleküler |
Pancreatitis, hereditary |
PRSS1 |
İncele |
| 1056 |
Moleküler |
Trypsinogen deficiency |
PRSS1 |
İncele |
| 1057 |
Moleküler |
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
PRUNE1 |
İncele |
| 1058 |
Moleküler |
Pick disease |
PSEN1 |
İncele |
| 1059 |
Moleküler |
Dementia, frontotemporal |
PSEN1 |
İncele |
| 1060 |
Moleküler |
Alzheimer disease, type 3 |
PSEN1 |
İncele |
| 1061 |
Moleküler |
Alzheimer disease, type 3, with spastic paraparesis and apraxia |
PSEN1 |
İncele |
| 1062 |
Moleküler |
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques |
PSEN1 |
İncele |
| 1063 |
Moleküler |
Cardiomyopathy, dilated, 1U |
PSEN1 |
İncele |
| 1064 |
Moleküler |
?Acne inversa, familial, 3 |
PSEN1 |
İncele |
| 1065 |
Moleküler |
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne |
PSTPIP1 |
İncele |
| 1066 |
Moleküler |
Pancreatic agenesis 2 |
PTF1A |
İncele |
| 1067 |
Moleküler |
Hypoparathyroidism, familial isolated 1 |
PTH |
İncele |
| 1068 |
Moleküler |
Glycogen storage disease VI |
PYGL |
İncele |
| 1069 |
Moleküler |
McArdle disease |
PYGM |
İncele |
| 1070 |
Moleküler |
Warburg micro syndrome 3 |
RAB18 |
İncele |
| 1071 |
Moleküler |
Carpenter syndrome |
RAB23 |
İncele |
| 1072 |
Moleküler |
Griscelli syndrome, type 2 |
RAB27A |
İncele |
| 1073 |
Moleküler |
Warburg micro syndrome 1 |
RAB3GAP1 |
İncele |
| 1074 |
Moleküler |
Small cell cancer of the lung, somatic |
RB1 |
İncele |
| 1075 |
Moleküler |
Bladder cancer, somatic |
RB1 |
İncele |
| 1076 |
Moleküler |
Retinoblastoma |
RB1 |
İncele |
| 1077 |
Moleküler |
Retinoblastoma, trilateral |
RB1 |
İncele |
| 1078 |
Moleküler |
Osteosarcoma, somatic |
RB1 |
İncele |
| 1079 |
Moleküler |
Thrombocytopenia-absent radius syndrome |
RBM8A |
İncele |
| 1080 |
Moleküler |
Baller-Gerold syndrome |
RECQL4 |
İncele |
| 1081 |
Moleküler |
RAPADILINO syndrome |
RECQL4 |
İncele |
| 1082 |
Moleküler |
Rothmund-Thomson syndrome |
RECQL4 |
İncele |
| 1083 |
Moleküler |
?Deafness, autosomal dominant 27 |
REST |
İncele |
| 1084 |
Moleküler |
{Wilms tumor 6, susceptibility to} |
REST |
İncele |
| 1085 |
Moleküler |
Fibromatosis, gingival, 5 |
REST |
İncele |
| 1086 |
Moleküler |
Noonan syndrome 8 |
RIT1 |
İncele |
| 1087 |
Moleküler |
Tonne-Kalscheuer syndrome |
RLIM |
İncele |
| 1088 |
Moleküler |
Ataxia, sensory, 1, autosomal dominant |
RNF170 |
İncele |
| 1089 |
Moleküler |
Brachydactyly, type B1 |
ROR2 |
İncele |
| 1090 |
Moleküler |
Robinow syndrome, autosomal recessive |
ROR2 |
İncele |
| 1091 |
Moleküler |
|
ROS1 |
İncele |
| 1092 |
Moleküler |
Leber congenital amaurosis 2 |
RPE65 |
İncele |
| 1093 |
Moleküler |
Retinitis pigmentosa 20 |
RPE65 |
İncele |
| 1094 |
Moleküler |
{Autism, susceptibility to, X-linked 5} |
RPL10 |
İncele |
| 1095 |
Moleküler |
Mental retardation, X-linked, syndromic, 35 |
RPL10 |
İncele |
| 1096 |
Moleküler |
Diamond-Blackfan anemia 6 |
RPL5 |
İncele |
| 1097 |
Moleküler |
Diamond-blackfan anemia 3 |
RPS24 |
İncele |
| 1098 |
Moleküler |
Retinoschisis |
RS1 |
İncele |
| 1099 |
Moleküler |
Spastic paraplegia 12, autosomal dominant |
RTN2 |
İncele |
| 1100 |
Moleküler |
Townes-Brocks branchiootorenal-like syndrome |
SALL1 |
İncele |
| 1101 |
Moleküler |
Townes-Brocks syndrome 1 |
SALL1 |
İncele |
| 1102 |
Moleküler |
IVIC syndrome |
SALL4 |
İncele |
| 1103 |
Moleküler |
Duane-radial ray syndrome |
SALL4 |
İncele |
| 1104 |
Moleküler |
Shwachman-Diamond syndrome |
SBDS |
İncele |
| 1105 |
Moleküler |
{Aplastic anemia, susceptibility to} |
SBDS |
İncele |
| 1106 |
Moleküler |
Epilepsy, generalized, with febrile seizures plus, type 1 |
SCN1B |
İncele |
| 1107 |
Moleküler |
Brugada syndrome 5 |
SCN1B |
İncele |
| 1108 |
Moleküler |
Cardiac conduction defect, nonspecific |
SCN1B |
İncele |
| 1109 |
Moleküler |
Atrial fibrillation, familial, 13 |
SCN1B |
İncele |
| 1110 |
Moleküler |
Epileptic encephalopathy, early infantile, 52 |
SCN1B |
İncele |
| 1111 |
Moleküler |
Seizures, benign familial infantile, 3 |
SCN2A |
İncele |
| 1112 |
Moleküler |
Epileptic encephalopathy, early infantile, 11 |
SCN2A |
İncele |
| 1113 |
Moleküler |
Paramyotonia congenita |
SCN4A |
İncele |
| 1114 |
Moleküler |
Hyperkalemic periodic paralysis, type 2 |
SCN4A |
İncele |
| 1115 |
Moleküler |
Myotonia congenita, atypical, acetazolamide-responsive |
SCN4A |
İncele |
| 1116 |
Moleküler |
Hypokalemic periodic paralysis, type 2 |
SCN4A |
İncele |
| 1117 |
Moleküler |
Myasthenic syndrome, congenital, 16 |
SCN4A |
İncele |
| 1118 |
Moleküler |
Polycystic kidney disease 1 |
SCN9A |
İncele |
| 1119 |
Moleküler |
Pseudohypoaldosteronism, type I |
SCNN1A |
İncele |
| 1120 |
Moleküler |
Bronchiectasis with or without elevated sweat chloride 2 |
SCNN1A |
İncele |
| 1121 |
Moleküler |
?Liddle syndrome 3 |
SCNN1A |
İncele |
| 1122 |
Moleküler |
Liddle syndrome 1 |
SCNN1B |
İncele |
| 1123 |
Moleküler |
Bronchiectasis with or without elevated sweat chloride 1 |
SCNN1B |
İncele |
| 1124 |
Moleküler |
Pseudohypoaldosteronism, type I |
SCNN1B |
İncele |
| 1125 |
Moleküler |
Pseudohypoaldosteronism, type I |
SCNN1G |
İncele |
| 1126 |
Moleküler |
Bronchiectasis with or without elevated sweat chloride 3 |
SCNN1G |
İncele |
| 1127 |
Moleküler |
Liddle syndrome 2 |
SCNN1G |
İncele |
| 1128 |
Moleküler |
Mitochondrial complex IV deficiency, nuclear type 2 |
SCO2 |
İncele |
| 1129 |
Moleküler |
Myopia 6 |
SCO2 |
İncele |
| 1130 |
Moleküler |
Paragangliomas 1, with or without deafness |
SDHD |
İncele |
| 1131 |
Moleküler |
Pheochromocytoma |
SDHD |
İncele |
| 1132 |
Moleküler |
Mitochondrial complex II deficiency |
SDHD |
İncele |
| 1133 |
Moleküler |
Paraganglioma and gastric stromal sarcoma |
SDHD |
İncele |
| 1134 |
Moleküler |
Angioedema, hereditary, types I and II |
SERPING1 |
İncele |
| 1135 |
Moleküler |
Complement component 4, partial deficiency of |
SERPING1 |
İncele |
| 1136 |
Moleküler |
Schinzel-Giedion midface retraction syndrome |
SETBP1 |
İncele |
| 1137 |
Moleküler |
Mental retardation, autosomal dominant 29 |
SETBP1 |
İncele |
| 1138 |
Moleküler |
Amyotrophic lateral sclerosis 4, juvenile |
SETX |
İncele |
| 1139 |
Moleküler |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
SETX |
İncele |
| 1140 |
Moleküler |
Myelodysplastic syndrome, somatic |
SF3B1 |
İncele |
| 1141 |
Moleküler |
Surfactant metabolism dysfunction, pulmonary, 1 |
SFTPB |
İncele |
| 1142 |
Moleküler |
Muscular dystrophy, limb-girdle, autosomal recessive 3 |
SGCA |
İncele |
| 1143 |
Moleküler |
Mucopolysaccharidosis type IIIA (Sanfilippo A) |
SGSH |
İncele |
| 1144 |
Moleküler |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2b1 Deficiency |
SH2B1 |
İncele |
| 1145 |
Moleküler |
Mononeuropathy of the median nerve, mild |
SH3TC2 |
İncele |
| 1146 |
Moleküler |
Leri-Weill dyschondrosteosis |
SHOX |
İncele |
| 1147 |
Moleküler |
Langer mesomelic dysplasia |
SHOX |
İncele |
| 1148 |
Moleküler |
Short stature, idiopathic familial |
SHOX |
İncele |
| 1149 |
Moleküler |
Obesity Due To Sim1 Deficiency and Prader-Willi-Like Syndrome Due To A Point Mutation |
SIM1 |
İncele |
| 1150 |
Moleküler |
|
SIRT1 |
İncele |
| 1151 |
Moleküler |
Bartter syndrome, type 1 |
SLC12A1 |
İncele |
| 1152 |
Moleküler |
Gitelman syndrome |
SLC12A3 |
İncele |
| 1153 |
Moleküler |
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) |
SLC19A3 |
İncele |
| 1154 |
Moleküler |
Carnitine deficiency, systemic primary |
SLC22A5 |
İncele |
| 1155 |
Moleküler |
Citrullinemia, adult-onset type II |
SLC25A13 |
İncele |
| 1156 |
Moleküler |
Citrullinemia, type II, neonatal-onset |
SLC25A13 |
İncele |
| 1157 |
Moleküler |
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
SLC25A15 |
İncele |
| 1158 |
Moleküler |
Carnitine-acylcarnitine translocase deficiency |
SLC25A20 |
İncele |
| 1159 |
Moleküler |
Diarrhea 1, secretory chloride, congenital |
SLC26A3 |
İncele |
| 1160 |
Moleküler |
Pendred syndrome |
SLC26A4 |
İncele |
| 1161 |
Moleküler |
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct |
SLC26A4 |
İncele |
| 1162 |
Moleküler |
Ichthyosis Prematurity Syndrome and Melkersson-Rosenthal Syndrome |
SLC27A1 |
İncele |
| 1163 |
Moleküler |
Histiocytosis-lymphadenopathy plus syndrome |
SLC29A3 |
İncele |
| 1164 |
Moleküler |
{Diabetes mellitus, noninsulin-dependent} |
SLC2A2 |
İncele |
| 1165 |
Moleküler |
Fanconi-Bickel syndrome |
SLC2A2 |
İncele |
| 1166 |
Moleküler |
Glycogen storage disease Ib |
SLC37A4 |
İncele |
| 1167 |
Moleküler |
Glycogen storage disease Ic |
SLC37A4 |
İncele |
| 1168 |
Moleküler |
Cystinuria |
SLC3A1 |
İncele |
| 1169 |
Moleküler |
[Blood group, Diego] |
SLC4A1 |
İncele |
| 1170 |
Moleküler |
[Blood group, Waldner] |
SLC4A1 |
İncele |
| 1171 |
Moleküler |
[Blood group, Wright] |
SLC4A1 |
İncele |
| 1172 |
Moleküler |
Ovalocytosis, SA type |
SLC4A1 |
İncele |
| 1173 |
Moleküler |
Renal tubular acidosis, distal, AD |
SLC4A1 |
İncele |
| 1174 |
Moleküler |
Cryohydrocytosis |
SLC4A1 |
İncele |
| 1175 |
Moleküler |
[Blood group, Swann] |
SLC4A1 |
İncele |
| 1176 |
Moleküler |
[Blood group, Froese] |
SLC4A1 |
İncele |
| 1177 |
Moleküler |
[Malaria, resistance to] |
SLC4A1 |
İncele |
| 1178 |
Moleküler |
Renal tubular acidosis, distal, AR |
SLC4A1 |
İncele |
| 1179 |
Moleküler |
Spherocytosis, type 4 |
SLC4A1 |
İncele |
| 1180 |
Moleküler |
Glucose+galactose malabsorption |
SLC5A1 |
İncele |
| 1181 |
Moleküler |
Hyperekplexia 3 |
SLC6A5 |
İncele |
| 1182 |
Moleküler |
Lysinuric protein intolerance |
SLC7A7 |
İncele |
| 1183 |
Moleküler |
Cystinuria |
SLC7A9 |
İncele |
| 1184 |
Moleküler |
Diarrhea 8, secretory sodium, congenital |
SLC9A3 |
İncele |
| 1185 |
Moleküler |
Hypertrophic osteoarthropathy, primary, autosomal recessive 2 |
SLCO2A1 |
İncele |
| 1186 |
Moleküler |
Tourette syndrome |
SLITRK1 |
İncele |
| 1187 |
Moleküler |
?Trichotillomania |
SLITRK1 |
İncele |
| 1188 |
Moleküler |
|
SMARCA1 |
İncele |
| 1189 |
Moleküler |
Niemann-Pick disease, type A |
SMPD1 |
İncele |
| 1190 |
Moleküler |
Niemann-Pick disease, type B |
SMPD1 |
İncele |
| 1191 |
Moleküler |
Amyotrophic lateral sclerosis 1 |
SOD1 |
İncele |
| 1192 |
Moleküler |
Spastic tetraplegia and axial hypotonia, progressive |
SOD1 |
İncele |
| 1193 |
Moleküler |
?Fibromatosis, gingival, 1 |
SOS1 |
İncele |
| 1194 |
Moleküler |
Noonan syndrome 4 |
SOS1 |
İncele |
| 1195 |
Moleküler |
Mental retardation, X-linked, with isolated growth hormone deficiency |
SOX3 |
İncele |
| 1196 |
Moleküler |
Panhypopituitarism, X-linked |
SOX3 |
İncele |
| 1197 |
Moleküler |
Acampomelic campomelic dysplasia |
SOX9 |
İncele |
| 1198 |
Moleküler |
Campomelic dysplasia |
SOX9 |
İncele |
| 1199 |
Moleküler |
Campomelic dysplasia with autosomal sex reversal |
SOX9 |
İncele |
| 1200 |
Moleküler |
Spastic paraplegia 4, autosomal dominant |
SPAST |
İncele |
| 1201 |
Moleküler |
Amyotrophic lateral sclerosis 5, juvenile |
SPG11 |
İncele |
| 1202 |
Moleküler |
Spastic paraplegia 11, autosomal recessive |
SPG11 |
İncele |
| 1203 |
Moleküler |
Charcot-Marie-Tooth disease, axonal, type 2X |
SPG11 |
İncele |
| 1204 |
Moleküler |
Pancreatitis, hereditary |
SPINK1 |
İncele |
| 1205 |
Moleküler |
{Fibrocalculous pancreatic diabetes, susceptibility to} |
SPINK1 |
İncele |
| 1206 |
Moleküler |
Tropical calcific pancreatitis |
SPINK1 |
İncele |
| 1207 |
Moleküler |
?Spermatogenic failure 29 |
SPINK2 |
İncele |
| 1208 |
Moleküler |
Spinocerebellar ataxia 5 |
SPTBN2 |
İncele |
| 1209 |
Moleküler |
Spinocerebellar ataxia, autosomal recessive 14 |
SPTBN2 |
İncele |
| 1210 |
Moleküler |
Paget disease of bone 3 |
SQSTM1 |
İncele |
| 1211 |
Moleküler |
Frontotemporal dementia and+or amyotrophic lateral sclerosis 3 |
SQSTM1 |
İncele |
| 1212 |
Moleküler |
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset |
SQSTM1 |
İncele |
| 1213 |
Moleküler |
Myopathy, distal, with rimmed vacuoles |
SQSTM1 |
İncele |
| 1214 |
Moleküler |
Hyper-IgE recurrent infection syndrome |
STAT3 |
İncele |
| 1215 |
Moleküler |
Autoimmune disease, multisystem, infantile-onset, 1 |
STAT3 |
İncele |
| 1216 |
Moleküler |
Microphthalmia, isolated, with coloboma 8 |
STRA6 |
İncele |
| 1217 |
Moleküler |
Microphthalmia, syndromic 9 |
STRA6 |
İncele |
| 1218 |
Moleküler |
Hemophagocytic lymphohistiocytosis, familial, 4 |
STX11 |
İncele |
| 1219 |
Moleküler |
Pseudohypoparathyroidism, type IB |
STX16 |
İncele |
| 1220 |
Moleküler |
Diarrhea 12, with microvillus atrophy |
STX3 |
İncele |
| 1221 |
Moleküler |
Retinal dystrophy and microvillus inclusion disease |
STX3 |
İncele |
| 1222 |
Moleküler |
Epileptic encephalopathy, early infantile, 4 |
STXBP1 |
İncele |
| 1223 |
Moleküler |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
SUCLA2 |
İncele |
| 1224 |
Moleküler |
Sulfite oxidase deficiency |
SUOX |
İncele |
| 1225 |
Moleküler |
Hypogonadotropic hypogonadism 10 with or without anosmia |
TAC3 |
İncele |
| 1226 |
Moleküler |
Warburg Micro Syndrome 1 |
TBC1D1 |
İncele |
| 1227 |
Moleküler |
Warburg micro syndrome 4 |
TBC1D20 |
İncele |
| 1228 |
Moleküler |
Hypoparathyroidism-retardation-dysmorphism syndrome |
TBCE |
İncele |
| 1229 |
Moleküler |
Kenny-Caffey syndrome, type 1 |
TBCE |
İncele |
| 1230 |
Moleküler |
Encephalopathy, progressive, with amyotrophy and optic atrophy |
TBCE |
İncele |
| 1231 |
Moleküler |
{Parkinson disease, susceptibility to} |
TBP |
İncele |
| 1232 |
Moleküler |
Spinocerebellar ataxia 17 |
TBP |
İncele |
| 1233 |
Moleküler |
Tetralogy of Fallot |
TBX1 |
İncele |
| 1234 |
Moleküler |
DiGeorge syndrome |
TBX1 |
İncele |
| 1235 |
Moleküler |
Velocardiofacial syndrome |
TBX1 |
İncele |
| 1236 |
Moleküler |
Conotruncal anomaly face syndrome |
TBX1 |
İncele |
| 1237 |
Moleküler |
Holt-Oram syndrome |
TBX5 |
İncele |
| 1238 |
Moleküler |
Treacher Collins syndrome 1 |
TCOF1 |
İncele |
| 1239 |
Moleküler |
{Leukemia, acute myeloid} |
TERT |
İncele |
| 1240 |
Moleküler |
{Dyskeratosis congenita, autosomal dominant 2} |
TERT |
İncele |
| 1241 |
Moleküler |
{Dyskeratosis congenita, autosomal recessive 4} |
TERT |
İncele |
| 1242 |
Moleküler |
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1} |
TERT |
İncele |
| 1243 |
Moleküler |
{Melanoma, cutaneous malignant, 9} |
TERT |
İncele |
| 1244 |
Moleküler |
Esophageal cancer, somatic |
TGFBR2 |
İncele |
| 1245 |
Moleküler |
Loeys-Dietz syndrome 2 |
TGFBR2 |
İncele |
| 1246 |
Moleküler |
Colorectal cancer, hereditary nonpolyposis, type 6 |
TGFBR2 |
İncele |
| 1247 |
Moleküler |
Ichthyosis, congenital, autosomal recessive 1 |
TGM1 |
İncele |
| 1248 |
Moleküler |
Segawa syndrome, recessive |
TH |
İncele |
| 1249 |
Moleküler |
Thrombocythemia 1 |
THPO |
İncele |
| 1250 |
Moleküler |
Hypothyroidism, congenital, nongoitrous, 6 |
THRA |
İncele |
| 1251 |
Moleküler |
{HIV1 infection, resistance to} |
TLR3 |
İncele |
| 1252 |
Moleküler |
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2} |
TLR3 |
İncele |
| 1253 |
Moleküler |
Immunodeficiency 74, COVID19-related, X-linked |
TLR7 |
İncele |
| 1254 |
Moleküler |
|
TLR8 |
İncele |
| 1255 |
Moleküler |
Epidermodysplasia verruciformis |
TMC6 |
İncele |
| 1256 |
Moleküler |
{Pheochromocytoma, susceptibility to} |
TMEM127 |
İncele |
| 1257 |
Moleküler |
COACH syndrome 1 |
TMEM67 |
İncele |
| 1258 |
Moleküler |
?RHYNS syndrome |
TMEM67 |
İncele |
| 1259 |
Moleküler |
Meckel syndrome 3 |
TMEM67 |
İncele |
| 1260 |
Moleküler |
Joubert syndrome 6 |
TMEM67 |
İncele |
| 1261 |
Moleküler |
Nephronophthisis 11 |
TMEM67 |
İncele |
| 1262 |
Moleküler |
{Bardet-Biedl syndrome 14, modifier of} |
TMEM67 |
İncele |
| 1263 |
Moleküler |
Iron-refractory iron deficiency anemia |
TMPRSS6 |
İncele |
| 1264 |
Moleküler |
Autoinflammatory syndrome, familial, Behcet-like |
TNFAIP3 |
İncele |
| 1265 |
Moleküler |
Immunodeficiency, common variable, 2 |
TNFRSF13B |
İncele |
| 1266 |
Moleküler |
Immunoglobulin A deficiency 2 |
TNFRSF13B |
İncele |
| 1267 |
Moleküler |
Periodic fever, familial |
TNFRSF1A |
İncele |
| 1268 |
Moleküler |
CAP myopathy 1 |
TNFRSF1A |
İncele |
| 1269 |
Moleküler |
{Multiple sclerosis, susceptibility to, 5} |
TNFRSF1A |
İncele |
| 1270 |
Moleküler |
Dystonia-1, torsion |
TOR1A |
İncele |
| 1271 |
Moleküler |
{Dystonia-1, modifier of} |
TOR1A |
İncele |
| 1272 |
Moleküler |
ADULT syndrome |
TP63 |
İncele |
| 1273 |
Moleküler |
Hay-Wells syndrome |
TP63 |
İncele |
| 1274 |
Moleküler |
Rapp-Hodgkin syndrome |
TP63 |
İncele |
| 1275 |
Moleküler |
Limb-mammary syndrome |
TP63 |
İncele |
| 1276 |
Moleküler |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 |
TP63 |
İncele |
| 1277 |
Moleküler |
Split-hand/foot malformation 4 |
TP63 |
İncele |
| 1278 |
Moleküler |
Orofacial cleft 8 |
TP63 |
İncele |
| 1279 |
Moleküler |
Myopathy, congenital, with fiber-type disproportion |
TPM3 |
İncele |
| 1280 |
Moleküler |
Nemaline myopathy 1, autosomal dominant or recessive |
TPM3 |
İncele |
| 1281 |
Moleküler |
{Thiopurines, poor metabolism of, 1} |
TPMT |
İncele |
| 1282 |
Moleküler |
Ceroid lipofuscinosis, neuronal, 2 |
TPP1 |
İncele |
| 1283 |
Moleküler |
Spinocerebellar ataxia, autosomal recessive 7 |
TPP1 |
İncele |
| 1284 |
Moleküler |
Spondyloepiphyseal dysplasia tarda |
TRAPPC2 |
İncele |
| 1285 |
Moleküler |
Systemic lupus erythematosus, susceptibility to} |
TREX1 |
İncele |
| 1286 |
Moleküler |
Vasculopathy, retinal, with cerebral leukodystrophy |
TREX1 |
İncele |
| 1287 |
Moleküler |
Aicardi-Goutieres syndrome 1, dominant and recessive |
TREX1 |
İncele |
| 1288 |
Moleküler |
Chilblain lupus |
TREX1 |
İncele |
| 1289 |
Moleküler |
?Anencephaly 1 |
TRIM36 |
İncele |
| 1290 |
Moleküler |
{Deafness, mitochondrial, modifier of} |
TRMU |
İncele |
| 1291 |
Moleküler |
Liver failure, transient infantile |
TRMU |
İncele |
| 1292 |
Moleküler |
Trichorhinophalangeal syndrome, type I |
TRPS1 |
İncele |
| 1293 |
Moleküler |
Trichorhinophalangeal syndrome, type III |
TRPS1 |
İncele |
| 1294 |
Moleküler |
Pontocerebellar hypoplasia type 4 |
TSEN54 |
İncele |
| 1295 |
Moleküler |
Pontocerebellar hypoplasia type 2A |
TSEN54 |
İncele |
| 1296 |
Moleküler |
Pontocerebellar hypoplasia type 5 |
TSEN54 |
İncele |
| 1297 |
Moleküler |
Hypothyroidism, congenital, nongoitrous, 1 |
TSHR |
İncele |
| 1298 |
Moleküler |
Hyperthyroidism, familial gestational |
TSHR |
İncele |
| 1299 |
Moleküler |
Hyperthyroidism, nonautoimmune |
TSHR |
İncele |
| 1300 |
Moleküler |
Thyroid adenoma, hyperfunctioning, somatic |
TSHR |
İncele |
| 1301 |
Moleküler |
Thyroid carcinoma with thyrotoxicosis |
TSHR |
İncele |
| 1302 |
Moleküler |
Amyloidosis, hereditary, transthyretin-related |
TTR |
İncele |
| 1303 |
Moleküler |
Carpal tunnel syndrome, familial |
TTR |
İncele |
| 1304 |
Moleküler |
[Dystransthyretinemic hyperthyroxinemia] |
TTR |
İncele |
| 1305 |
Moleküler |
Cortical dysplasia, complex, with other brain malformations 7 |
TUBB2B |
İncele |
| 1306 |
Moleküler |
Fibrosis of extraocular muscles, congenital, 3A |
TUBB3 |
İncele |
| 1307 |
Moleküler |
Cortical dysplasia, complex, with other brain malformations 1 |
TUBB3 |
İncele |
| 1308 |
Moleküler |
Oocyte maturation defect 2 |
TUBB8 |
İncele |
| 1309 |
Moleküler |
Saethre-Chotzen syndrome with or without eyelid anomalies |
TWIST1 |
İncele |
| 1310 |
Moleküler |
Craniosynostosis 1 |
TWIST1 |
İncele |
| 1311 |
Moleküler |
Robinow-Sorauf syndrome |
TWIST1 |
İncele |
| 1312 |
Moleküler |
Sweeney-Cox syndrome |
TWIST1 |
İncele |
| 1313 |
Moleküler |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
TYMP |
İncele |
| 1314 |
Moleküler |
Angelman syndrome |
UBE3A |
İncele |
| 1315 |
Moleküler |
Kaufman oculocerebrofacial syndrome |
UBE3B |
İncele |
| 1316 |
Moleküler |
Corneal dystrophy, Schnyder type |
UBIAD1 |
İncele |
| 1317 |
Moleküler |
Johanson-Blizzard syndrome |
UBR1 |
İncele |
| 1318 |
Moleküler |
[Gilbert syndrome] |
UGT1A1 |
İncele |
| 1319 |
Moleküler |
Crigler-Najjar syndrome, type I |
UGT1A1 |
İncele |
| 1320 |
Moleküler |
Hyperbilirubinemia, familial transient neonatal |
UGT1A1 |
İncele |
| 1321 |
Moleküler |
[Bilirubin, serum level of, QTL1] |
UGT1A1 |
İncele |
| 1322 |
Moleküler |
Crigler-Najjar syndrome, type II |
UGT1A1 |
İncele |
| 1323 |
Moleküler |
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} |
UNC93B1 |
İncele |
| 1324 |
Moleküler |
{Neural tube defects, susceptibility to} |
VANGL1 |
İncele |
| 1325 |
Moleküler |
Caudal regression syndrome |
VANGL1 |
İncele |
| 1326 |
Moleküler |
?Osteoporosis, involutional |
VDR |
İncele |
| 1327 |
Moleküler |
Rickets, vitamin D-resistant, type IIA |
VDR |
İncele |
| 1328 |
Moleküler |
Warfarin resistance |
VKORC1 |
İncele |
| 1329 |
Moleküler |
Vitamin K-dependent clotting factors, combined deficiency of, 2 |
VKORC1 |
İncele |
| 1330 |
Moleküler |
von Willebrand disease, type 1 |
VWF |
İncele |
| 1331 |
Moleküler |
von Willibrand disease, type 3 |
VWF |
İncele |
| 1332 |
Moleküler |
von Willebrand disease, types 2A, 2B, 2M, and 2N |
VWF |
İncele |
| 1333 |
Moleküler |
Neutropenia, severe congenital, X-linked |
WAS |
İncele |
| 1334 |
Moleküler |
Wiskott-Aldrich syndrome |
WAS |
İncele |
| 1335 |
Moleküler |
Thrombocytopenia, X-linked |
WAS |
İncele |
| 1336 |
Moleküler |
Thrombocytopenia, X-linked, intermittent |
WAS |
İncele |
| 1337 |
Moleküler |
Ritscher-Schinzel syndrome 1 |
WASHC5 |
İncele |
| 1338 |
Moleküler |
Spastic paraplegia 8, autosomal dominant |
WASHC5 |
İncele |
| 1339 |
Moleküler |
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations |
WDR62 |
İncele |
| 1340 |
Moleküler |
Galloway-Mowat syndrome 1 |
WDR73 |
İncele |
| 1341 |
Moleküler |
?Cataract 41 |
WFS1 |
İncele |
| 1342 |
Moleküler |
{Diabetes mellitus, noninsulin-dependent, association with} |
WFS1 |
İncele |
| 1343 |
Moleküler |
Wolfram syndrome 1 |
WFS1 |
İncele |
| 1344 |
Moleküler |
Deafness, autosomal dominant 6+14+38 |
WFS1 |
İncele |
| 1345 |
Moleküler |
Wolfram-like syndrome, autosomal dominant |
WFS1 |
İncele |
| 1346 |
Moleküler |
Arthropathy, progressive pseudorheumatoid, of childhood |
WISP3 |
İncele |
| 1347 |
Moleküler |
Spondyloepiphyseal dysplasia tarda with progressive arthropathy |
WISP3 |
İncele |
| 1348 |
Moleküler |
Tooth agenesis, selective, 4 |
WNT10A |
İncele |
| 1349 |
Moleküler |
Schopf-Schulz-Passarge syndrome |
WNT10A |
İncele |
| 1350 |
Moleküler |
Odontoonychodermal dysplasia |
WNT10A |
İncele |
| 1351 |
Moleküler |
?Tetra-amelia syndrome 1 |
WNT3 |
İncele |
| 1352 |
Moleküler |
Mullerian aplasia and hyperandrogenism |
WNT4 |
İncele |
| 1353 |
Moleküler |
?SERKAL syndrome |
WNT4 |
İncele |
| 1354 |
Moleküler |
Fuhrmann syndrome |
WNT7A |
İncele |
| 1355 |
Moleküler |
Ulna and fibula, absence of, with severe limb deficiency |
WNT7A |
İncele |
| 1356 |
Moleküler |
Werner syndrome |
WRN |
İncele |
| 1357 |
Moleküler |
Xanthinuria, type I |
XDH |
İncele |
| 1358 |
Moleküler |
Lymphoproliferative syndrome, X-linked, 2 |
XIAP |
İncele |
| 1359 |
Moleküler |
Xeroderma pigmentosum, group C |
XPC |
İncele |
| 1360 |
Moleküler |
Grange syndrome |
YY1AP1 |
İncele |
| 1361 |
Moleküler |
Mowat-Wilson syndrome |
ZEB2 |
İncele |
| 1362 |
Moleküler |
Klinik Ekzom Dizileme (CES) |
|
İncele |
| 1363 |
Moleküler |
Ekzom Sekanslama (WES) |
|
İncele |
| 1364 |
Moleküler |
Pseudovaginal perineoscrotal hypospadias |
SRD5A2 |
İncele |
| 1365 |
Moleküler |
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |
CYP21A2 |
İncele |
| 1366 |
Moleküler |
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency |
CYP21A2 |
İncele |
| 1367 |
Moleküler |
Congenital heart defects and skeletal malformations syndrome |
ABL1 |
İncele |
| 1368 |
Moleküler |
Leukemia, Philadelphia chromosome-positive, resistant to imatinib |
ABL1 |
İncele |
| 1369 |
Moleküler |
Colorectal cancer, somatic |
APC |
İncele |
| 1370 |
Moleküler |
Hepatoblastoma, somatic |
APC |
İncele |
| 1371 |
Moleküler |
Desmoid disease, hereditary |
APC |
İncele |
| 1372 |
Moleküler |
Adenomatous polyposis coli |
APC |
İncele |
| 1373 |
Moleküler |
Brain tumor-polyposis syndrome 2 |
APC |
İncele |
| 1374 |
Moleküler |
Gardner syndrome |
APC |
İncele |
| 1375 |
Moleküler |
Hyperferritinemia-cataract syndrome |
APC |
İncele |
| 1376 |
Moleküler |
Gastric cancer, somatic |
APC |
İncele |
| 1377 |
Moleküler |
Adenoma, periampullary, somatic |
APC |
İncele |
| 1378 |
Moleküler |
{Breast cancer, male, susceptibility to} |
BRCA1-BRCA2 |
İncele |
| 1379 |
Moleküler |
{Medulloblastoma} |
BRCA1-BRCA2 |
İncele |
| 1380 |
Moleküler |
{Prostate cancer} |
BRCA1-BRCA2 |
İncele |
| 1381 |
Moleküler |
Wilms tumor |
BRCA1-BRCA2 |
İncele |
| 1382 |
Moleküler |
{Breast-ovarian cancer, familial, 1} |
BRCA1-BRCA2 |
İncele |
| 1383 |
Moleküler |
Fanconi anemia, complementation group D1 |
BRCA1-BRCA2 |
İncele |
| 1384 |
Moleküler |
{Breast-ovarian cancer, familial, 2} |
BRCA1-BRCA2 |
İncele |
| 1385 |
Moleküler |
{Glioblastoma 3} |
BRCA1-BRCA2 |
İncele |
| 1386 |
Moleküler |
{Pancreatic cancer 2} |
BRCA1-BRCA2 |
İncele |
| 1387 |
Moleküler |
{Pancreatic cancer, susceptibility to, 4} |
BRCA1-BRCA2 |
İncele |
| 1388 |
Moleküler |
Fanconi anemia, complementation group S |
BRCA1-BRCA2 |
İncele |
| 1389 |
Moleküler |
{Pulmonary disease, chronic obstructive, susceptibility to} |
SERPINA1 |
İncele |
| 1390 |
Moleküler |
Emphysema due to AAT deficiency |
SERPINA1 |
İncele |
| 1391 |
Moleküler |
Emphysema-cirrhosis, due to AAT deficiency |
SERPINA1 |
İncele |
| 1392 |
Moleküler |
Hemorrhagic diathesis due to antithrombin Pittsburgh |
SERPINA1 |
İncele |
| 1393 |
Moleküler |
ANKİLOZAN SPONDİLİT |
HLA B27 |
İncele |
| 1394 |
Moleküler |
Ataxia-telangiectasia |
ATM |
İncele |
| 1395 |
Moleküler |
{Breast cancer, susceptibility to} |
ATM |
İncele |
| 1396 |
Moleküler |
Lymphoma, B-cell non-Hodgkin, somatic |
ATM |
İncele |
| 1397 |
Moleküler |
Lymphoma, mantle cell, somatic |
ATM |
İncele |
| 1398 |
Moleküler |
T-cell prolymphocytic leukemia, somatic |
ATM |
İncele |
| 1399 |
Moleküler |
Heinz body anemia |
HBB |
İncele |
| 1400 |
Moleküler |
Delta-beta thalassemia |
HBB |
İncele |
| 1401 |
Moleküler |
Hereditary persistence of fetal hemoglobin |
HBB |
İncele |
| 1402 |
Moleküler |
Thalassemia-beta, dominant inclusion-body |
HBB |
İncele |
| 1403 |
Moleküler |
Sickle cell anemia |
HBB |
İncele |
| 1404 |
Moleküler |
{Malaria, resistance to} |
HBB |
İncele |
| 1405 |
Moleküler |
Thalassemia, beta |
HBB |
İncele |
| 1406 |
Moleküler |
Methmoglobinemia, beta type |
HBB |
İncele |
| 1407 |
Moleküler |
Erythrocytosis 6 |
HBB |
İncele |
| 1408 |
Moleküler |
Biotinidase deficiency |
BTD |
İncele |
| 1409 |
Moleküler |
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 |
NOTCH3 |
İncele |
| 1410 |
Moleküler |
Lateral meningocele syndrome |
NOTCH3 |
İncele |
| 1411 |
Moleküler |
?Myofibromatosis, infantile 2 |
NOTCH3 |
İncele |
| 1412 |
Moleküler |
CALR Mutasyonu (Ekzon 9) |
CALR (EKZON9) |
İncele |
| 1413 |
Moleküler |
CALR Mutasyonu (Ekzon 9) |
CALR (EKZON9) |
İncele |
| 1414 |
Moleküler |
Charcot-Marie-Tooth disease, type 2B1-2A1 |
LMNA - KIF1B |
İncele |
| 1415 |
Moleküler |
Charcot-Marie-Tooth disease, axonal, type 2EE-2V |
MPV17 - NAGLU |
İncele |
| 1416 |
Moleküler |
Charcot-Marie-Tooth disease, type 1A-1B-1E-2I-2J |
PMP22 - MPZ |
İncele |
| 1417 |
Moleküler |
Charcot-Marie-Tooth disease, type 4C-4J |
SH3TC2 - FIG4 |
İncele |
| 1418 |
Moleküler |
ÇÖLYAK |
HLADQ2, HLADQ8, HLADR4 |
İncele |
| 1419 |
Moleküler |
Diabetes insipidus, neurohypophyseal |
AVP |
İncele |
| 1420 |
Moleküler |
5-fluorouracil toxicity |
DPYD |
İncele |
| 1421 |
Moleküler |
Dihydropyrimidine dehydrogenase deficiency |
DPYD |
İncele |
| 1422 |
Moleküler |
Epilepsy, generalized, with febrile seizures plus, type 2 |
SCN1A |
İncele |
| 1423 |
Moleküler |
Febrile seizures, familial, 3A |
SCN1A |
İncele |
| 1424 |
Moleküler |
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) |
SCN1A |
İncele |
| 1425 |
Moleküler |
Migraine, familial hemiplegic, 3 |
SCN1A |
İncele |
| 1426 |
Moleküler |
Becker muscular dystrophy |
DMD |
İncele |
| 1427 |
Moleküler |
Cardiomyopathy, dilated, 3B |
DMD |
İncele |
| 1428 |
Moleküler |
Duchenne muscular dystrophy |
DMD |
İncele |
| 1429 |
Moleküler |
Fabry disease |
GLA |
İncele |
| 1430 |
Moleküler |
Fabry disease, cardiac variant |
GLA |
İncele |
| 1431 |
Moleküler |
[Hyperphenylalaninemia, non-PKU mild] |
PAH |
İncele |
| 1432 |
Moleküler |
Phenylketonuria |
PAH |
İncele |
| 1433 |
Moleküler |
Apert syndrome |
FGFR2 |
İncele |
| 1434 |
Moleküler |
Saethre-Chotzen syndrome |
FGFR2 |
İncele |
| 1435 |
Moleküler |
Craniofacial-skeletal-dermatologic dysplasia |
FGFR2 |
İncele |
| 1436 |
Moleküler |
Pfeiffer syndrome |
FGFR2 |
İncele |
| 1437 |
Moleküler |
Jackson-Weiss syndrome |
FGFR2 |
İncele |
| 1438 |
Moleküler |
Crouzon syndrome |
FGFR2 |
İncele |
| 1439 |
Moleküler |
Beare-Stevenson cutis gyrata syndrome |
FGFR2 |
İncele |
| 1440 |
Moleküler |
LADD syndrome |
FGFR2 |
İncele |
| 1441 |
Moleküler |
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
FGFR2 |
İncele |
| 1442 |
Moleküler |
Scaphocephaly, maxillary retrusion, and mental retardation |
FGFR2 |
İncele |
| 1443 |
Moleküler |
Gastric cancer, somatic |
FGFR2 |
İncele |
| 1444 |
Moleküler |
Bent bone dysplasia syndrome |
FGFR2 |
İncele |
| 1445 |
Moleküler |
Craniosynostosis, nonspecific |
FGFR2 |
İncele |
| 1446 |
Moleküler |
Scaphocephaly and Axenfeld-Rieger anomaly |
FGFR2 |
İncele |
| 1447 |
Moleküler |
Achondroplasia |
FGFR3 |
İncele |
| 1448 |
Moleküler |
Bladder cancer, somatic |
FGFR3 |
İncele |
| 1449 |
Moleküler |
Colorectal cancer, somatic |
FGFR3 |
İncele |
| 1450 |
Moleküler |
Hypochondroplasia |
FGFR3 |
İncele |
| 1451 |
Moleküler |
LADD syndrome |
FGFR3 |
İncele |
| 1452 |
Moleküler |
Nevus, epidermal, somatic |
FGFR3 |
İncele |
| 1453 |
Moleküler |
Thanatophoric dysplasia, type I |
FGFR3 |
İncele |
| 1454 |
Moleküler |
Thanatophoric dysplasia, type II |
FGFR3 |
İncele |
| 1455 |
Moleküler |
Spermatocytic seminoma, somatic |
FGFR3 |
İncele |
| 1456 |
Moleküler |
Muenke syndrome |
FGFR3 |
İncele |
| 1457 |
Moleküler |
Cervical cancer, somatic |
FGFR3 |
İncele |
| 1458 |
Moleküler |
CATSHL syndrome |
FGFR3 |
İncele |
| 1459 |
Moleküler |
Crouzon syndrome with acanthosis nigricans |
FGFR3 |
İncele |
| 1460 |
Moleküler |
SADDAN |
FGFR3 |
İncele |
| 1461 |
Moleküler |
|
FLT3 d835/ITD (TKD/ITD) Mutasyon Analizi |
İncele |
| 1462 |
Moleküler |
|
FLT3 d835/ITD (TKD/ITD) Mutasyon Yükü Analizi |
İncele |
| 1463 |
Moleküler |
FMF (Ailesel Akdeniz Ateşi) Sık Görülen (5 Mutasyon) |
E148Q, M694V, M680I, V726A, R761H |
İncele |
| 1464 |
Moleküler |
*FMF Hastalığı (MEFV geni Dizi Analizi) |
MEFV |
İncele |
| 1465 |
Moleküler |
FRAJİL-X SENDROMU |
FMR1 GENİ CGG TEKRAR SAYISI |
İncele |
| 1466 |
Moleküler |
FRAJİL-X SENDROMU |
FMR1 GENİ CGG TEKRAR SAYISI |
İncele |
| 1467 |
Moleküler |
Friedreich ataxia |
FXN |
İncele |
| 1468 |
Moleküler |
Friedreich ataxia with retained reflexes |
FXN |
İncele |
| 1469 |
Moleküler |
Hemolytic anemia, G6PD deficient (favism) |
G6PD |
İncele |
| 1470 |
Moleküler |
{Resistance to malaria due to G6PD deficiency} |
G6PD |
İncele |
| 1471 |
Moleküler |
Dystonia 9 |
SLC2A1 |
İncele |
| 1472 |
Moleküler |
GLUT1 deficiency syndrome 1, infantile onset, severe |
SLC2A1 |
İncele |
| 1473 |
Moleküler |
Stomatin-deficient cryohydrocytosis with neurologic defects |
SLC2A1 |
İncele |
| 1474 |
Moleküler |
GLUT1 deficiency syndrome 2, childhood onset |
SLC2A1 |
İncele |
| 1475 |
Moleküler |
{Epilepsy, idiopathic generalized, susceptibility to, 12} |
SLC2A1 |
İncele |
| 1476 |
Moleküler |
{Alzheimer disease, susceptibility to} |
HFE |
İncele |
| 1477 |
Moleküler |
{Porphyria cutanea tarda, susceptibility to} |
HFE |
İncele |
| 1478 |
Moleküler |
{Porphyria variegata, susceptibility to} |
HFE |
İncele |
| 1479 |
Moleküler |
Hemochromatosis |
HFE |
İncele |
| 1480 |
Moleküler |
{Microvascular complications of diabetes 7} |
HFE |
İncele |
| 1481 |
Moleküler |
[Transferrin serum level QTL2] |
HFE |
İncele |
| 1482 |
Moleküler |
Hemophilia A |
F8 |
İncele |
| 1483 |
Moleküler |
Basal laminar drusen |
CFH |
İncele |
| 1484 |
Moleküler |
{Hemolytic uremic syndrome, atypical, susceptibility to, 1} |
CFH |
İncele |
| 1485 |
Moleküler |
Complement factor H deficiency |
CFH |
İncele |
| 1486 |
Moleküler |
{Macular degeneration, age-related, 4} |
CFH |
İncele |
| 1487 |
Moleküler |
Huntington Hastalığı (HTT geni CAG Üçlü Tekrar Sayısı Analizi) |
HTT |
İncele |
| 1488 |
Moleküler |
JAK2 Ekzon 12 |
JAK2 |
İncele |
| 1489 |
Moleküler |
JAK2 Mutasyonu (V617F) |
JAK2 |
İncele |
| 1490 |
Moleküler |
{Pancreatitis, hereditary} |
CFTR |
İncele |
| 1491 |
Moleküler |
{Bronchiectasis with or without elevated sweat chloride 1, modifier of} |
CFTR |
İncele |
| 1492 |
Moleküler |
Cystic fibrosis |
CFTR |
İncele |
| 1493 |
Moleküler |
Congenital bilateral absence of vas deferens |
CFTR |
İncele |
| 1494 |
Moleküler |
{Hypertrypsinemia, neonatal} |
CFTR |
İncele |
| 1495 |
Moleküler |
Sweat chloride elevation without CF |
CFTR |
İncele |
| 1496 |
Moleküler |
Myelofibrosis with myeloid metaplasia, somatic |
MPL |
İncele |
| 1497 |
Moleküler |
Thrombocythemia 2 |
MPL |
İncele |
| 1498 |
Moleküler |
Thrombocytopenia, congenital amegakaryocytic |
MPL |
İncele |
| 1499 |
Moleküler |
Breast cancer, somatic |
TP53 |
İncele |
| 1500 |
Moleküler |
{Colorectal cancer} |
TP53 |
İncele |
| 1501 |
Moleküler |
Hepatocellular carcinoma, somatic |
TP53 |
İncele |
| 1502 |
Moleküler |
{Glioma susceptibility 1} |
TP53 |
İncele |
| 1503 |
Moleküler |
Li-Fraumeni syndrome |
TP53 |
İncele |
| 1504 |
Moleküler |
{Adrenocortical carcinoma, pediatric} |
TP53 |
İncele |
| 1505 |
Moleküler |
{Osteosarcoma} |
TP53 |
İncele |
| 1506 |
Moleküler |
Pancreatic cancer, somatic |
TP53 |
İncele |
| 1507 |
Moleküler |
{Choroid plexus papilloma} |
TP53 |
İncele |
| 1508 |
Moleküler |
Nasopharyngeal carcinoma, somatic |
TP53 |
İncele |
| 1509 |
Moleküler |
{Basal cell carcinoma 7} |
TP53 |
İncele |
| 1510 |
Moleküler |
Bone marrow failure syndrome 5 |
TP53 |
İncele |
| 1511 |
Moleküler |
Acromicric dysplasia |
FBN1 |
İncele |
| 1512 |
Moleküler |
Ectopia lentis, familial |
FBN1 |
İncele |
| 1513 |
Moleküler |
Marfan syndrome |
FBN1 |
İncele |
| 1514 |
Moleküler |
Stiff skin syndrome |
FBN1 |
İncele |
| 1515 |
Moleküler |
MASS syndrome |
FBN1 |
İncele |
| 1516 |
Moleküler |
Weill-Marchesani syndrome 2, dominant |
FBN1 |
İncele |
| 1517 |
Moleküler |
Geleophysic dysplasia 2 |
FBN1 |
İncele |
| 1518 |
Moleküler |
Marfan lipodystrophy syndrome |
FBN1 |
İncele |
| 1519 |
Moleküler |
Maternal kontaminasyon Testi (STR Analizi) |
Maternal kontaminasyon Testi (STR Analizi) |
İncele |
| 1520 |
Moleküler |
Multiple endocrine neoplasia 1 |
MEN1 |
İncele |
| 1521 |
Moleküler |
Adrenal adenoma, somatic |
MEN1 |
İncele |
| 1522 |
Moleküler |
Angiofibroma, somatic |
MEN1 |
İncele |
| 1523 |
Moleküler |
Carcinoid tumor of lung |
MEN1 |
İncele |
| 1524 |
Moleküler |
Lipoma, somatic |
MEN1 |
İncele |
| 1525 |
Moleküler |
Parathyroid adenoma, somatic |
MEN1 |
İncele |
| 1526 |
Moleküler |
Metachromatic leukodystrophy |
ARSA |
İncele |
| 1527 |
Moleküler |
Mikroarray |
|
İncele |
| 1528 |
Moleküler |
t(9;22) (q34;q11.2) (Philadelphia krom.) p210 (PCR) |
|
İncele |
| 1529 |
Moleküler |
t(9;22) (q34;q11.2) (Philadelphia krom.) p190 (PCR) |
|
İncele |
| 1530 |
Moleküler |
t(15;17) (q22;q21) (PML/RARA) (PCR) |
|
İncele |
| 1531 |
Moleküler |
Mucopolysaccharidosis Ih |
IDUA |
İncele |
| 1532 |
Moleküler |
Mucopolysaccharidosis Ih/s |
IDUA |
İncele |
| 1533 |
Moleküler |
Mucopolysaccharidosis Is |
IDUA |
İncele |
| 1534 |
Moleküler |
Mucopolysaccharidosis type VI (Maroteaux-Lamy) |
ARSB |
İncele |
| 1535 |
Moleküler |
Myotonia congenita, recessive |
CLCN1 |
İncele |
| 1536 |
Moleküler |
Myotonia congenita, dominant |
CLCN1 |
İncele |
| 1537 |
Moleküler |
Myotonia levior, recessive |
CLCN1 |
İncele |
| 1538 |
Moleküler |
LEOPARD syndrome 1 |
PTPN11 |
İncele |
| 1539 |
Moleküler |
Metachondromatosis |
PTPN11 |
İncele |
| 1540 |
Moleküler |
Noonan syndrome 1 |
PTPN11 |
İncele |
| 1541 |
Moleküler |
Leukemia, juvenile myelomonocytic, somatic |
PTPN11 |
İncele |
| 1542 |
Moleküler |
Neurofibromatosis, type 1 |
NF1 |
İncele |
| 1543 |
Moleküler |
Neurofibromatosis, familial spinal |
NF1 |
İncele |
| 1544 |
Moleküler |
Watson syndrome |
NF1 |
İncele |
| 1545 |
Moleküler |
Neurofibromatosis-Noonan syndrome |
NF1 |
İncele |
| 1546 |
Moleküler |
Leukemia, juvenile myelomonocytic |
NF1 |
İncele |
| 1547 |
Moleküler |
Neurofibromatosis, type 2 |
NF2 |
İncele |
| 1548 |
Moleküler |
Schwannomatosis, somatic |
NF2 |
İncele |
| 1549 |
Moleküler |
Meningioma, NF2-related, somatic |
NF2 |
İncele |
| 1550 |
Moleküler |
Leukemia, acute myeloid, somatic |
NPM1 |
İncele |
| 1551 |
Moleküler |
Waardenburg syndrome+albinism, digenic |
TYR |
İncele |
| 1552 |
Moleküler |
Albinism, oculocutaneous, type IA |
TYR |
İncele |
| 1553 |
Moleküler |
[Skin+hair+eye pigmentation 3, blue+green eyes] |
TYR |
İncele |
| 1554 |
Moleküler |
[Skin+hair+eye pigmentation 3, light+dark+freckling skin] |
TYR |
İncele |
| 1555 |
Moleküler |
{Melanoma, cutaneous malignant, susceptibility to, 8} |
TYR |
İncele |
| 1556 |
Moleküler |
Albinism, oculocutaneous, type IB |
TYR |
İncele |
| 1557 |
Moleküler |
Caffey disease |
COL1A1-COL1A2 |
İncele |
| 1558 |
Moleküler |
Ehlers-Danlos syndrome, arthrochalasia type, 1 |
COL1A1-COL1A2 |
İncele |
| 1559 |
Moleküler |
Osteogenesis imperfecta, type I |
COL1A1-COL1A2 |
İncele |
| 1560 |
Moleküler |
Osteogenesis imperfecta, type II |
COL1A1-COL1A2 |
İncele |
| 1561 |
Moleküler |
Osteogenesis imperfecta, type II |
COL1A1-COL1A2 |
İncele |
| 1562 |
Moleküler |
Osteogenesis imperfecta, type IV |
COL1A1-COL1A2 |
İncele |
| 1563 |
Moleküler |
Osteogenesis imperfecta, type IV |
COL1A1-COL1A2 |
İncele |
| 1564 |
Moleküler |
{Bone mineral density variation QTL, osteoporosis} |
COL1A1-COL1A2 |
İncele |
| 1565 |
Moleküler |
{Osteoporosis, postmenopausal} |
COL1A1-COL1A2 |
İncele |
| 1566 |
Moleküler |
Ehlers-Danlos syndrome, cardiac valvular type |
COL1A1-COL1A2 |
İncele |
| 1567 |
Moleküler |
Osteogenesis imperfecta, type III |
COL1A1-COL1A2 |
İncele |
| 1568 |
Moleküler |
Osteogenesis imperfecta, type III |
COL1A1-COL1A2 |
İncele |
| 1569 |
Moleküler |
Ehlers-Danlos syndrome, arthrochalasia type, 2 |
COL1A1-COL1A2 |
İncele |
| 1570 |
Moleküler |
Neutropenia, severe congenital 3, autosomal recessive |
HAX1 |
İncele |
| 1571 |
Moleküler |
Melanoma, malignant, somatic |
STK11 |
İncele |
| 1572 |
Moleküler |
Peutz-Jeghers syndrome |
STK11 |
İncele |
| 1573 |
Moleküler |
Pancreatic cancer, somatic |
STK11 |
İncele |
| 1574 |
Moleküler |
Testicular tumor, somatic |
STK11 |
İncele |
| 1575 |
Moleküler |
Cowden syndrome 1 |
PTEN |
İncele |
| 1576 |
Moleküler |
Lhermitte-Duclos syndrome |
PTEN |
İncele |
| 1577 |
Moleküler |
Prostate cancer, somatic |
PTEN |
İncele |
| 1578 |
Moleküler |
Macrocephaly+autism syndrome |
PTEN |
İncele |
| 1579 |
Moleküler |
{Meningioma} |
PTEN |
İncele |
| 1580 |
Moleküler |
{Glioma susceptibility 2} |
PTEN |
İncele |
| 1581 |
Moleküler |
QF-PCR Anoploidi Taraması |
|
İncele |
| 1582 |
Moleküler |
{Hirschsprung disease, protection against} |
RET |
İncele |
| 1583 |
Moleküler |
{Hirschsprung disease, protection against} |
RET |
İncele |
| 1584 |
Moleküler |
{Hirschsprung disease, susceptibility to, 1} |
RET |
İncele |
| 1585 |
Moleküler |
{Hirschsprung disease, susceptibility to, 1} |
RET |
İncele |
| 1586 |
Moleküler |
Medullary thyroid carcinoma |
RET |
İncele |
| 1587 |
Moleküler |
Medullary thyroid carcinoma |
RET |
İncele |
| 1588 |
Moleküler |
Multiple endocrine neoplasia IIB |
RET |
İncele |
| 1589 |
Moleküler |
Multiple endocrine neoplasia IIB |
RET |
İncele |
| 1590 |
Moleküler |
Pheochromocytoma |
RET |
İncele |
| 1591 |
Moleküler |
Pheochromocytoma |
RET |
İncele |
| 1592 |
Moleküler |
Multiple endocrine neoplasia IIA |
RET |
İncele |
| 1593 |
Moleküler |
Multiple endocrine neoplasia IIA |
RET |
İncele |
| 1594 |
Moleküler |
Central hypoventilation syndrome, congenital |
RET |
İncele |
| 1595 |
Moleküler |
Mental retardation, X-linked, syndromic 13 |
MECP2 |
İncele |
| 1596 |
Moleküler |
Mental retardation, X-linked syndromic, Lubs type |
MECP2 |
İncele |
| 1597 |
Moleküler |
{Autism susceptibility, X-linked 3} |
MECP2 |
İncele |
| 1598 |
Moleküler |
Encephalopathy, neonatal severe |
MECP2 |
İncele |
| 1599 |
Moleküler |
Rett syndrome |
MECP2 |
İncele |
| 1600 |
Moleküler |
Rett syndrome, atypical |
MECP2 |
İncele |
| 1601 |
Moleküler |
Rett syndrome, preserved speech variant |
MECP2 |
İncele |
| 1602 |
Moleküler |
[Hex A pseudodeficiency] |
HEXA |
İncele |
| 1603 |
Moleküler |
GM2-gangliosidosis, several forms |
HEXA |
İncele |
| 1604 |
Moleküler |
Tay-Sachs disease |
HEXA |
İncele |
| 1605 |
Moleküler |
Thyroid hormone resistance, selective pituitary |
THRB |
İncele |
| 1606 |
Moleküler |
Thyroid hormone resistance |
THRB |
İncele |
| 1607 |
Moleküler |
Thyroid hormone resistance, autosomal recessive |
THRB |
İncele |
| 1608 |
Moleküler |
*Trombofili Paneli |
MTHFR C677, FAKTOR5 LEIDEN, FAKTOR2, FAKTOR13, PAI |
İncele |
| 1609 |
Moleküler |
Tuberous sclerosis-1 |
TSC1-TSC2 |
İncele |
| 1610 |
Moleküler |
Lymphangioleiomyomatosis |
TSC1-TSC2 |
İncele |
| 1611 |
Moleküler |
Lymphangioleiomyomatosis, somatic |
TSC1-TSC2 |
İncele |
| 1612 |
Moleküler |
?Focal cortical dysplasia, type II, somatic |
TSC1-TSC2 |
İncele |
| 1613 |
Moleküler |
Focal cortical dysplasia, type II, somatic |
TSC1-TSC2 |
İncele |
| 1614 |
Moleküler |
Tuberous sclerosis-2 |
TSC1-TSC2 |
İncele |
| 1615 |
Moleküler |
Renal cell carcinoma, somatic |
VHL |
İncele |
| 1616 |
Moleküler |
Pheochromocytoma |
VHL |
İncele |
| 1617 |
Moleküler |
von Hippel-Lindau syndrome |
VHL |
İncele |
| 1618 |
Moleküler |
Erythrocytosis, familial, 2 |
VHL |
İncele |
| 1619 |
Moleküler |
Hemangioblastoma, cerebellar, somatic |
VHL |
İncele |
| 1620 |
Moleküler |
Wilson Disease |
ATP7B |
İncele |
| 1621 |
Moleküler |
Frasier syndrome |
WT1 |
İncele |
| 1622 |
Moleküler |
Mesothelioma, somatic |
WT1 |
İncele |
| 1623 |
Moleküler |
Wilms tumor, type 1 |
WT1 |
İncele |
| 1624 |
Moleküler |
Denys-Drash syndrome |
WT1 |
İncele |
| 1625 |
Moleküler |
Nephrotic syndrome, type 4 |
WT1 |
İncele |
| 1626 |
Moleküler |
Meacham syndrome |
WT1 |
İncele |
| 1627 |
Moleküler |
Y MİKRODELESYON |
AZFa, AZFb, AZFc, AZFd |
İncele |
| 1628 |
FISH |
11q22.3 (ATM) Delesyonu FISH |
|
İncele |
| 1629 |
FISH |
11q23 FISH |
|
İncele |
| 1630 |
FISH |
13/21 FISH |
|
İncele |
| 1631 |
FISH |
14 q Breakapart |
|
İncele |
| 1632 |
FISH |
17p13.1 Delesyonu FISH |
|
İncele |
| 1633 |
FISH |
20q12 Delesyonu FISH |
|
İncele |
| 1634 |
FISH |
4q12 Deletion/Fusion |
|
İncele |
| 1635 |
FISH |
5q31 Delesyonu FISH |
|
İncele |
| 1636 |
FISH |
5q32 Breakapart |
|
İncele |
| 1637 |
FISH |
7q11 Mikrodelesyon FISH |
|
İncele |
| 1638 |
FISH |
7q31 Delesyonu FISH |
|
İncele |
| 1639 |
FISH |
Digeorge 22q13.3 Deletion |
|
İncele |
| 1640 |
FISH |
inv(16)(q22;p13) FISH |
|
İncele |
| 1641 |
FISH |
t(11;14)(q13;q32) FISH |
|
İncele |
| 1642 |
FISH |
t(12;21)(p13;q22) FISH |
|
İncele |
| 1643 |
FISH |
t(15;17)(q24;q21) FISH |
|
İncele |
| 1644 |
FISH |
t(4;14)(p16;q32) FISH |
|
İncele |
| 1645 |
FISH |
t(8;21)(q21;q22) FISH |
|
İncele |
| 1646 |
FISH |
t(9;22)(q34;11.2) FISH |
|
İncele |
| 1647 |
FISH |
Trizomi / Monozomi 8 FISH |
|
İncele |
| 1648 |
FISH |
Trizomi 12 FISH |
|
İncele |
| 1649 |
FISH |
Xp22.3 Mikrodelesyon FISH |
|
İncele |
| 1650 |
FISH |
Xp22.3/Xp22.31 Mikrodelesyon FISH |
|
İncele |
| 1651 |
FISH |
Yp11.31 Mikrodelesyon FISH |
|
İncele |
| 1652 |
FISH |
FISH, Trizomi/Monozomi 4 (CEP 4) (SE 4) (Sentromer 4) |
|
İncele |
| 1653 |
FISH |
FISH, Trizomi/Monozomi 10 (CEP 10) (SE 10) (Sentromer 10) |
|
İncele |
| 1654 |
FISH |
FISH, Trizomi/Monozomi 7 (CEP 7) (SE 7) (Sentromer 7) |
|
İncele |
| 1655 |
FISH |
13q14.3 Delesyonu FISH |
|
İncele |
| 1656 |
FISH |
15q11.2 Mikrodelesyon FISH |
|
İncele |
| 1657 |
FISH |
17p11.2 Mikrodelesyon FISH |
|
İncele |
| 1658 |
FISH |
17p13 Mikrodelesyon FISH |
|
İncele |
| 1659 |
FISH |
1q21.3 Delesyon FISH |
|
İncele |
| 1660 |
FISH |
5p15 Mikrodelesyon FISH |
|
İncele |
| 1661 |
FISH |
8q24 FISH |
|
İncele |
| 1662 |
FISH |
9p21 Delesyon FISH |
|
İncele |
| 1663 |
FISH |
Digeorge 22q13.3 Deletion |
|
İncele |
| 1664 |
FISH |
Digeorge 22q13.3 Deletion |
|
İncele |
| 1665 |
FISH |
t(1;19)(q23;p13) FISH |
|
İncele |
| 1666 |
FISH |
t(11;19)(q23;p13) FISH |
|
İncele |
| 1667 |
FISH |
t(14;16)(q32;q23) Translokasyon FISH |
|
İncele |
| 1668 |
FISH |
t(14;18)(q32;q21) FISH |
|
İncele |
| 1669 |
FISH |
t(14;20)(q32;q12) Translokasyon FISH |
|
İncele |
| 1670 |
FISH |
t(4;11) (q21;q23) FISH |
|
İncele |
| 1671 |
FISH |
t(8;14)(q24;q32) FISH |
|
İncele |
| 1672 |
FISH |
t(9;11)(p21;q23) FISH |
|
İncele |
| 1673 |
FISH |
FISH, X / Y / 18 |
|
İncele |
| 1674 |
FISH |
FISH, 1p.36.32/1q25 ve 19q13.2/19q.13.33 Delesyon Analizi |
|
İncele |
| 1675 |
FISH |
17q12 FISH |
|
İncele |
| 1676 |
FISH |
2p23.2-p23.1 FISH |
|
İncele |
| 1677 |
FISH |
6q22.1 FISH |
|
İncele |
| 1678 |
FISH |
1q22-q23.1 FISH |
|
İncele |
| 1679 |
FISH |
9q21.32/q21.33 FISH |
|
İncele |
| 1680 |
FISH |
15q25.3-q26.1 FISH |
|
İncele |
| 1681 |
FISH |
t(11;22)(q24.3;q12.1-q12.2) FISH |
|
İncele |
| 1682 |
FISH |
2p24.3/2q11.2 FISH |
|
İncele |
| 1683 |
FISH |
17p13.1 FISH |
|
İncele |
| 1684 |
FISH |
13q14 FISH |
|
İncele |
| 1685 |
Sitogenetik |
*Kemik iliğinden kromozom analizi |
|
İncele |
| 1686 |
Sitogenetik |
*Periferik kandan kromozom analizi |
|
İncele |
| 1687 |
Sitogenetik |
*Fetal kandan kromozom analizi |
|
İncele |
| 1688 |
Sitogenetik |
*Amnion sıvısından kromozom analizi |
|
İncele |
| 1689 |
Sitogenetik |
Koryonik villusdan kromozom analizi |
|
İncele |
| 1690 |
Sitogenetik |
*Düşük materyalinden kromozom analizi |
|
İncele |
| 1691 |
Sitogenetik |
Diğer dokulardan kromozom analizi |
|
İncele |
| 1692 |
MLPA Delesyon-Duplikasyon |
21-HİDROKSİLAZ YETMEZLİĞİ DELESYON-DUPLİKASYON ANALİZİ |
CYP21A2-CYP21A1P |
İncele |
| 1693 |
MLPA Delesyon-Duplikasyon |
ALFA TALASEMİ DELESYON-DUPLİKASYON ANALİZİ |
HBA1-HBA2-HBZ |
İncele |
| 1694 |
MLPA Delesyon-Duplikasyon |
BRCA1 GENİ DELESYON DUPLİKASYON ANALİZİ |
BRCA1 |
İncele |
| 1695 |
MLPA Delesyon-Duplikasyon |
BRCA2 GENİ DELESYON DUPLİKASYON ANALİZİ |
BRCA2 |
İncele |
| 1696 |
MLPA Delesyon-Duplikasyon |
CHARCOT-MARİE-TOOTH HASTALIĞI TİP1 DELESYON-DUPLİKASYON ANALİZİ |
PMP22-TEKT3-KIF1b-COX10 |
İncele |
| 1697 |
MLPA Delesyon-Duplikasyon |
DUCHENNE/BECKER MUSKÜLER DİSTROFİ DELESYON-DUPLİKASYON ANALİZİ 2 PROP |
DMD |
İncele |
| 1698 |
MLPA Delesyon-Duplikasyon |
KİSTİK FİBROZİS DELESYON-DUPLİKASYON ANALİZİ |
CFTR |
İncele |
| 1699 |
MLPA Delesyon-Duplikasyon |
SPİNAL MUSKÜLER ATROFİ DELESYON DUPLİKASYON ANALİZİ |
SMN1-SMN2 |
İncele |
| 1700 |
MLPA Delesyon-Duplikasyon |
BECKWİTH-WİEDEMANN SENDROMU DELESYON-DUPLİKASYON ANALİZİ |
CDKN1C-NSD1-H19-IGF2-KCNQ1-KCNQ1OT1 |
İncele |
| 1701 |
MLPA Delesyon-Duplikasyon |
BETA TALASEMİ DELESYON-DUPLİKASYON ANALİZİ |
HBB |
İncele |
| 1702 |
MLPA Delesyon-Duplikasyon |
CDKL5 GENİ DELESYON-DUPLİKASYON ANALİZİ |
MECP2-CDKL5-ARX-NTNG1 |
İncele |
| 1703 |
MLPA Delesyon-Duplikasyon |
COL7A1 GENİ DELESYON-DUPLİKASYON ANALİZİ |
COL7A1-KRT5 |
İncele |
| 1704 |
MLPA Delesyon-Duplikasyon |
DİGEORGE SENDROMU DELESYON-DUPLİKASYON ANALİZİ |
PPIL2-SLC25A18-DGCR8-HIRA-SNRPD3-TBX1-MICAL3-CLTCL1-CLDN5-ZNF74-GP1BB-GNAZ-SMARCB1-USP18-TXNRD2-RSPH14-KLHL22-TOP3B-HIC2-MED15-IL17RA-RAB36-BID-SNAP29-LZTR1-CDC45 |
İncele |
| 1705 |
MLPA Delesyon-Duplikasyon |
FANCA GENİ DELESYON DUPLİKASYON ANALİZİ 2 PROP |
FANCA |
İncele |
| 1706 |
MLPA Delesyon-Duplikasyon |
HOLOPROZENSEFALİ DELESYON-DUPLİKASYON ANALİZİ |
GLI2-ZIC2-SHH-TGIF1-SIX2-SIX3-PTCH1-TRAPPC10-FBXW11 |
İncele |
| 1707 |
MLPA Delesyon-Duplikasyon |
HPRT1 GENİ DELESYON-DUPLİKASYON ANALİZİ |
HPRT1-PLAC1 |
İncele |
| 1708 |
MLPA Delesyon-Duplikasyon |
İŞİTME KAYBI DELESYON-DUPLİKASYON ANALİZİ |
GJB2-GJB3-GJB6-WFS1-POU3F4 |
İncele |
| 1709 |
MLPA Delesyon-Duplikasyon |
KRT5 GENİ DELESYON-DUPLİKASYON ANALİZİ |
COL7A1-KRT5 |
İncele |
| 1710 |
MLPA Delesyon-Duplikasyon |
MARFAN SENDROMU DELESYON-DUPLİKASYON ANALİZİ 2 PROP |
FBN1-TGFBR2 |
İncele |
| 1711 |
MLPA Delesyon-Duplikasyon |
MİTOKONDRİAL DNA DELESYON DUPLİKASYON ANALİZİ |
MT-DNA |
İncele |
| 1712 |
MLPA Delesyon-Duplikasyon |
NÖROFİBROMATOZİS TİP1 DELESYON-DUPLİKASYON ANALİZİ2 PROP |
NF1 |
İncele |
| 1713 |
MLPA Delesyon-Duplikasyon |
NÖROFİBROMATOZİS TİP2 DELESYON-DUPLİKASYON ANALİZİ |
NF2 |
İncele |
| 1714 |
MLPA Delesyon-Duplikasyon |
PAX6 GENİ DELESYON-DUPLİKASYON ANALİZİ |
PAX6-WT1-SOX2-DCDC1-ELP4-FSHB-LMO2-HIPK3-BDNF-RCN1-CD44 |
İncele |
| 1715 |
MLPA Delesyon-Duplikasyon |
PKD1-PKD2 GENLERİ DELESYON-DUPLİKASYON ANALİZİ |
PKD1-PKD2 |
İncele |
| 1716 |
MLPA Delesyon-Duplikasyon |
PLP1 GENİ DELESYON-DUPLİKASYON ANALİZİ |
PLP1-ESX1-NXF3-BEX4-RAB40AL-RAB9B-FAM199X-NGFRAP1-TMSB15B-MORF4L2-BEX2-BHLHB9-ARMCX5-TCEAL1-IL1RAPL2-RAB40A-GLRA4-TMSB15A-MCART6-SERPINA7-TMEM31 |
İncele |
| 1717 |
MLPA Delesyon-Duplikasyon |
POR GENİ DELESYON-DUPLİKASYON ANALİZİ |
POR-HSPB1 |
İncele |
| 1718 |
MLPA Delesyon-Duplikasyon |
PRADER-WİLLİ / ANGELMAN SENDROMU DELESYON-DUPLİKASYON ANALİZİ |
UBE3A-SNRPN-OCA2-TUBGCP5-MKRN3-APBA2-GABRB3-ATP10A-MAGEL2-NDN-NIPA1 |
İncele |
| 1719 |
MLPA Delesyon-Duplikasyon |
RESESİF ATAKSİ DELESYON-DUPLİKASYON ANALİZİ |
APTX-SETX-FXN |
İncele |
| 1720 |
MLPA Delesyon-Duplikasyon |
RETT SENDROMU DELESYON-DUPLİKASYON ANALİZİ |
MECP2-CDKL5-ARX-NTNG1 |
İncele |
| 1721 |
MLPA Delesyon-Duplikasyon |
RUSSELL-SİLVER SENDROMU DELESYON-DUPLİKASYON ANALİZİ |
CDKN1C-NSD1-H19-IGF2-KCNQ1-KCNQ1OT1 |
İncele |
| 1722 |
MLPA Delesyon-Duplikasyon |
TSC2 GENİ DELESYON-DUPLİKASYON ANALİZİ |
TSC2 |
İncele |
| 1723 |
MLPA Delesyon-Duplikasyon |
NÖROMETABOLİK DELESYON-DUPLİKASYON ANALİZİ |
MLC1-MLYCD-D2HGDH-L2HGDH |
İncele |
| 1724 |
MLPA Delesyon-Duplikasyon |
FOXL2-TWIST1 GENLERİ DELESYON-DUPLİKASYON ANALİZİ |
FOXL2-TWIST1-GPR143-PITX2-ATR-PISRT1-FOXC1-FOXC2 |
İncele |
| 1725 |
MLPA Delesyon-Duplikasyon |
AR GENİ DELESYON-DUPLİKASYON ANALİZİ |
AR |
İncele |
| 1726 |
MLPA Delesyon-Duplikasyon |
TSC1 GENİ DELESYON-DUPLİKASYON ANALİZİ |
TSC1 |
İncele |
| 1727 |
MLPA Delesyon-Duplikasyon |
NPC1-NPC2-SMPD1 GENLERİ DELESYON-DUPLİKASYON ANALİZİ |
NPC1-NPC2-SMPD1 |
İncele |
| 1728 |
MLPA Delesyon-Duplikasyon |
NPHP1 GENİ DELESYON-DUPLİKASYON ANALİZİ |
NPHP1 |
İncele |
| 1729 |
MLPA Delesyon-Duplikasyon |
BTK GENİ DELESYON-DUPLİKASYON ANALİZİ |
BTK |
İncele |
