NIPAL1, NIPA like domain containing 1, 152519

N. diseases: 17; N. variants: 17
Disease: RETINITIS PIGMENTOSA 49 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527236058
rs527236058
Entrez Id: 1259;152519;101927157
Gene Symbol: CNGA1;NIPAL1;LOC101927157
CNGA1;NIPAL1;LOC101927157
CUI: C3151059
Disease:
RETINITIS PIGMENTOSA 49 		A 0.700 CausalMutation CLINVAR Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. 25268133 2014
dbSNP: rs527236058
rs527236058
Entrez Id: 1259;152519;101927157
Gene Symbol: CNGA1;NIPAL1;LOC101927157
CNGA1;NIPAL1;LOC101927157
CUI: C3151059
Disease:
RETINITIS PIGMENTOSA 49 		A 0.700 CausalMutation CLINVAR Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. 7479749 1995