|
1871
|
|
|
Hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4 |
- |
|
|
1872
|
|
|
EDAR associated via death domain |
CR, ECTD11A, ECTD11B, ED3, EDA3 |
Alopecia, Anhidrosis, Anodontia, Diabetes mellitus, Ectodermal dysplasia, Eczema, Frontal bossing, Hypodontia, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia, x-linked, Hypoplasia of nipple, Hypoplasia of teeth, Hypoplasia of the maxilla, Hypothyroidism, Hypotrichosis, Microdontia, Micrognathism, Nail diseases, Nail dysplasia, Oligodontia, Peg-shaped teeth, RhinitisView all (8 more) |
|
1873
|
|
|
Collagen type IV alpha 1 chain |
BSVD, BSVD1, COL4A1s, PADMAL, RATOR |
Absence of septum pellucidum, Acquired porencephaly, Agenesis of corpus callosum, Anemia, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Arthritis, Axenfeld anomaly, Brain small vessel disease with axenfeld-rieger anomaly, Brain small vessel disease with or without ocular anomalies, Brain small vessel disease with hemorrhage, Cardiovascular diseases, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral microangiopathy, Cerebral palsy, Congenital cataract, Congenital coloboma of iris, Congenital hypoplasia of penis, Congenital porencephaly, Coronary artery disease, Cryptorchidism, Dandy-walker syndrome, Dementia, Developmental delay, Developmental porencephaly, Diabetic nephropathy, Disorder of eye, Dysmorphic features, Exotropia, Facial paralysis, Focal cortical dysplasia, Glaucoma, Glomerular hyalinosis, Glomerulosclerosis, Hanac syndrome, Heart failure, Hydrocephalus, Hypertension, Hypoplasia of the optic nerve, Hypothyroidism, Impaired cognition, Ischemic stroke, Kidney disease, Leukodystrophy, Leukoencephalopathy, Leukoencephalopathy with vanishing white matter, Macrocephaly, Mental depression, Mental retardation, Microangiopathic hemolytic anemia, Microcephaly, Microcornea, Microphthalmos, Migraine, Movement disorders, Multiple renal cysts, Muscular dystrophy, Myopathy, Myopia, Nephrotic syndrome, Optic atrophy, Pachygyria, Polymicrogyria, Pontine microangiopathy with leukoencephalopathy, Porencephalic cyst, Porencephaly, Posteriorly rotated ear, Raynaud phenomenon, Renal cyst, Renal insufficiency, Retinal arterial tortuosity, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Rheumatoid arthritis, Rieger syndrome, Schizencephaly, Sleep apnea, Specific learning disorder, Stroke, Submucosal cleft palate, Syndromic microphthalmia, Thoracic aortic aneurysm and aortic dissection, Vascular diseases, Vascular leukoencephalopathy, Walker-warburg congenital muscular dystrophy, Walker-warburg syndromeView all (73 more) |
|
1874
|
|
|
Transmembrane protein 125 |
- |
|
|
1875
|
|
|
IQ motif containing GTPase activating protein 3 |
- |
|
|
1876
|
|
|
NAD(P)HX epimerase |
AIBP, APOA1BP, PEBEL, YJEFN1 |
Brain atrophy, Cerebellar edema, Cerebral atrophy, Developmental regression, Encephalopathy, Epileptic encephalopathy, Leukoencephalopathy, Encephalopathy with brain edema and/or leukoencephalopathy, Nystagmus, Respiratory failure, Skin erosion, Spinal cord diseases, Strabismus |
|
1877
|
|
|
DNA damage regulated autophagy modulator 2 |
CORD21, PRO180, TMEM77, WWFQ154 |
|
|
1878
|
|
|
Olfactory receptor family 6 subfamily P member 1 |
- |
|
|
1879
|
|
|
Collagen type IV alpha 2 chain |
BSVD2, ICH, POREN2 |
Acquired porencephaly, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Arthritis, Autism, Colonic neoplasms, Colorectal adenoma, Colorectal cancer, Colorectal neoplasms, Congenital porencephaly, Coronary artery disease, Coronary heart disease, Developmental delay, Developmental porencephaly, Hypoplasia of the optic nerve, Leukemia, Lung carcinoma, Miosis disorder, Myocardial infarction, Nephrotic syndrome, Pituitary diseases, Porencephalic cyst, PorencephalyView all (7 more) |
|
1880
|
|
|
Sodium/potassium transporting ATPase interacting 4 |
C20orf58, FAM77A, bA261N11.2 |
|
