severe visual impairment Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001141
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Genes

8 genes associated with the severe visual impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALG3 ALG3, alpha-1,3- mannosyltransferase
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CNGB3 cyclic nucleotide gated channel beta 3
HPS1 Hermansky-Pudlak syndrome 1
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NPHP4 nephronophthisis 4
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
ZNF513 zinc finger protein 513