|
1401
|
|
|
WD repeat domain 45 |
JM5, NBIA4, NBIA5, WDRX1, WIPI-4, WIPI4 |
Beta-propeller protein-associated neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Cerebral, cerebellar, coloboma syndrome, x-linked, Dementia, Developmental delay, Dysautonomia, Dysmorphic features, Dyssomnia, Epilepsy, Heart failure, Hypoplasia of corpus callosum, Infantile spasms, Mental retardation, Movement disorders, Multiple congenital anomalies, Nephropathy with pretibial epidermolysis bullosa and deafness, Neurodegeneration with brain iron accumulation, Neurodevelopmental disorders, Optic atrophy, Parkinson disease, Sleep disorders, Spasms syndrome, West syndromeView all (9 more) |
|
1402
|
|
|
Adaptor related protein complex 4 subunit sigma 1 |
AP47B, CLA20, CLAPS4, CPSQ6, SPG52 |
Cerebellar atrophy, Cerebral cortical atrophy, Cerebral palsy, Congenital clubfoot, Developmental dysplasia of the hip, Congenital genu recurvatum, Developmental delay, Dwarfism, Dysmorphic features, High palate, Hypoplasia of corpus callosum, Mental retardation, Macrostomia, Mental retardation with spastic paraplegia, Microcephaly, Spastic paraplegia, Stereotyped behavior, StrabismusView all (3 more) |
|
1403
|
|
|
LIM domain binding 3 |
CMD1C, CMD2L, CMH24, CMPD3, CYPHER, LDB3Z1, LDB3Z4, LVNC3, MFM4, ORACLE, PDLIM6, ZASP |
Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy, Distal myopathy, Hearing loss, Heart block, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Lipoatrophy, Lipodystrophy, Myofibrillar myopathy, Myopathy, Nervous system diseases, Neuromuscular diseases, Palmoplantar keratoderma, PolyneuropathyView all (2 more) |
|
1404
|
|
|
Protein tyrosine phosphatase 4A3 |
PRL-3, PRL-R, PRL3 |
|
|
1405
|
|
|
Chitinase 3 like 1 |
ASRT7, CGP-39, GP-39, GP39, HC-gp39, HCGP-3P, YK-40, YKL-40, YKL40, YYL-40, hCGP-39 |
|
|
1406
|
|
|
ER lipid raft associated 2 |
C8orf2, Erlin-2, NET32, SPFH2, SPG18, SPG18A, SPG18B |
Aphasia, Developmental delay, Developmental regression, Disability-motor dysfunction-multiple joint contractures syndrome, Dysphagia, Elbow flexion contracture, Febrile seizures, Flexion contracture of wrist, High palate, Hip contracture, Mental retardation, Language disorders, Lateral sclerosis, Macroglossia, Macrostomia, Pseudobulbar palsy, Scoliosis, Sensory neuropathy, Spastic paraplegia, Spastic tetraparesis, Hereditary spastic paraplegia, Strabismus, SynophrysView all (8 more) |
|
1407
|
|
|
Nudix hydrolase 6 |
ASFGF2, FGF-AS, FGF2AS, GFG-1, GFG1 |
|
|
1408
|
|
|
Follistatin like 1 |
FRP, FSL1, MIR198, OCC-1, OCC1, tsc36 |
|
|
1409
|
|
|
PC4 and SRSF1 interacting protein 1 |
DFS70, LEDGF, PAIP, PSIP2, p52, p75 |
|
|
1410
|
|
|
Family with sequence similarity 107 member A |
DRR1, TU3A |
|
