|
1481
|
|
|
Intraflagellar transport 43 |
C14orf179, CED3, RP81, SRTD18 |
Arrhythmogenic right ventricular cardiomyopathy, Brachydactyly, Camptodactyly of fingers, Ciliopathies, Congenital epicanthus, Congenital pectus excavatum, Cranioectodermal dysplasia, Craniosynostosis, Cutis laxa, Dolichocephaly, Dwarfism, Ectodermal dysplasia, Frontal bossing, Hydrocephalus, Hypodontia, Hypoplasia of teeth, Loeys-dietz syndrome, Cystic hygroma, Microdontia, Micrognathism, Micromelia, Myopia, Nephronophthisis, Nystagmus, Osteoporosis, Polycystic kidney disease, Polydactyly, Radial polydactyly, Retinitis pigmentosa, Rhizomelia, Short rib-polydactyly syndrome, Syndactyly, Syndactyly of fingers, Taurodontism, Thoracic aortic aneurysm and aortic dissection, Thoracic hypoplasia, UrticariaView all (22 more) |
|
1482
|
|
|
Syntaxin 1B |
GEFSP9, STX1B1, STX1B2 |
Anxiety disorder, Autism, Cortical dysplasia, Developmental regression, Dyscognitive seizures, Epilepsy, Epilepsy with febrile seizures plus, Febrile seizures, Generalized epilepsy with febrile seizures plus, Hypotonic seizures, Impaired cognition, Movement disorders, Myoclonic seizures, Obtundation status, Psoriasis, Psoriasis vulgaris, SeizureView all (2 more) |
|
1483
|
|
|
Three prime repair exonuclease 1 |
AGS1, CRV, DRN3, HERNS, RVCLS |
Acquired porencephaly, Aicardi goutieres syndrome, Alloimmune thrombocytopenia, Anemia, Aortic aneurysm, Apraxia, Arrhinencephaly, Arthritis, Autoinflammatory disease, Brain atrophy, Cerebellar hypoplasia, Cerebral atrophy, Cerebroretinal vasculopathy, Chilblain lesions, Chilblain lupus erythematosus, Cutis marmorata, Degeneration of the striatum, Dementia, Demyelinating neuropathy, Developmental delay, Developmental regression, Diabetes mellitus, Dwarfism, Dysarthria, Enchondroma, Epileptic encephalopathy, Gastric polyposis, Glaucoma, Glaucoma, congenital, Hemiplegia/hemiparesis, Hypertrophic cardiomyopathy, Hypoplasia of corpus callosum, Hypothyroidism, Kidney disease, Leukodystrophy, Leukoencephalopathy, Leukopenia, Lipoatrophy, Lipodystrophy, Lupus erythematosus, Lymphocytic leukemia, Macular edema, Mental retardation, Microcephaly, Micronodular cirrhosis, Migraine, Myositis, Nephritis, Nonbacterial verrucal endocardiosis, Nystagmus, Panniculitis, Penis agenesis, Pericarditis, Plagiocephaly, Pleuritis, Porencephalic cyst, Pseudo-torch syndrome, Psychosis, Ptosis, Raynaud phenomenon, Renal glomerular disease, Retinal diseases, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Scoliosis, Spastic quadriplegia, Strabismus, Stroke, Systemic lupus erythematosus, Vasculitis, Vasculopathy, retinal, with cerebral leukodystrophyView all (55 more) |
|
1484
|
|
|
KLF transcription factor 12 |
AP-2rep, AP2REP, HSPC122 |
|
|
1485
|
|
|
KLF transcription factor 8 |
BKLF3, ZNF741 |
|
|
1486
|
|
|
Cholinergic receptor muscarinic 1 |
HM1, M1, M1R |
|
|
1487
|
|
|
Sodium voltage-gated channel alpha subunit 11 |
FEPS3, HSAN7, NAV1.9, NaN, PN5, SCN12A, SNS-2 |
Congenital pain insensitivity, Dysautonomia, Episodic pain syndrome, Erythermalgia, Erythromelalgia, Hereditary motor and sensory neuropathy, Hereditary sensory and autonomic neuropathy, Leukemia, Motor delay, Nervous system diseases, Paroxysmal extreme pain disorder, Sodium channelopathy-related small fiber neuropathy, Vasculitis |
|
1488
|
|
|
Keratin 71 |
HYPT13, K6IRS1, KRT6IRS, KRT6IRS1 |
|
|
1489
|
|
|
POU class 6 homeobox 2 |
RPF-1, WT5, WTSL |
|
|
1490
|
|
|
Ferredoxin 2 |
FDX1L, MEOAL |
|
