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: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		C 0.700 CausalMutation CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050 2015
dbSNP: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		C 0.700 CausalMutation CLINVAR Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 23847139 2013
dbSNP: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		C 0.700 CausalMutation CLINVAR RDH12 retinopathy: novel mutations and phenotypic description. 22065924 2011
dbSNP: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		C 0.700 CausalMutation CLINVAR The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. 17389517 2007
dbSNP: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		C 0.700 CausalMutation CLINVAR Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. 16269441 2005