RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
Disease: LEBER CONGENITAL AMAUROSIS 13 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894471
rs104894471
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 CausalMutation CLINVAR Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 29186038 2017
dbSNP: rs104894471
rs104894471
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 CausalMutation CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376 2015
dbSNP: rs104894471
rs104894471
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 CausalMutation CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
dbSNP: rs104894471
rs104894471
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 CausalMutation CLINVAR Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982 2004