|
3401
|
|
|
Nicotinamide nucleotide adenylyltransferase 2 |
C1orf15, PNAT2 |
Cerebellar hypoplasia, Dysmorphic features, Erythromelalgia, Hydrocephalus, Hydropic placenta, Hydrops fetalis, Lupus erythematosus, Cystic hygroma, Micrognathism, Multiple congenital anomalies, Polyneuropathy |
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3402
|
|
|
Clusterin associated protein 1 |
CFAP22, FAP22, IFT38 |
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|
3403
|
|
|
TBC1 domain family member 9B |
GRAMD9B |
|
|
3404
|
|
|
WAPL cohesin release factor |
FOE, KIAA0261, WAPAL |
|
|
3405
|
|
|
Senataxin |
ALS4, AOA2, SCAN2, SCAR1, STEX, Sen1, bA479K20.2 |
Amyotrophic lateral sclerosis, Ataxia, Cerebellar atrophy, Charcot-marie-tooth disease, Choreoathetosis, Distal amyotrophy, Dysarthria, Dysphagia, Hypercholesterolemia, Hypoalbuminemia, Movement disorders, Neuropathy, Nystagmus, Oculomotor apraxia, Oculovestibuloauditory syndrome, Peripheral axonal neuropathy, Polyneuropathy, Sensorimotor neuropathy, Spastic paraplegia, Spinocerebellar ataxia, Spinocerebellar ataxia, with axonal neuropathy, StrabismusView all (7 more) |
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3406
|
|
|
ER membrane protein complex subunit 1 |
CAVIPMR, KIAA0090 |
Astigmatism, Atrophy of corpus callosum, Central visual impairment, Cerebellar atrophy, Cerebellar atrophy, visual impairment, and psychomotor retardation, Cerebral atrophy, Congenital anomalies of kidney and urinary tract, Developmental delay, Esotropia, Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, Hyperopia, Hypoplasia of corpus callosum, Imperforate anus, Mental retardation, Movement disorders, Myopia, Optic atrophy, Scoliosis, Speech delayView all (4 more) |
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3407
|
|
|
Cullin associated and neddylation dissociated 2 (putative) |
TIP120B, Tp120b |
|
|
3408
|
|
|
SET domain containing 1B, histone lysine methyltransferase |
IDDSELD, KMT2G, Set1B |
|
|
3409
|
|
|
Endoplasmic reticulum protein 44 |
PDIA10, TXNDC4 |
|
|
3410
|
|
|
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 |
NEDL1 |
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