Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894476
rs104894476
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.800 GeneticVariation UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
dbSNP: rs104894476
rs104894476
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104894476
rs104894476
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982 2004
dbSNP: rs28940313
rs28940313
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		G 0.800 GeneticVariation CLINVAR
dbSNP: rs28940313
rs28940313
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982 2004
dbSNP: rs28940313
rs28940313
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28940313
rs28940313
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.800 GeneticVariation UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
dbSNP: rs1239043055
rs1239043055
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 GeneticVariation CLINVAR Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. 16269441 2005
dbSNP: rs1239043055
rs1239043055
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C0035334
Disease:
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1239043055
rs1239043055
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 GeneticVariation CLINVAR Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 24474277 2014
dbSNP: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C4316870
Disease:
Abnormality of the eye 		C 0.700 CausalMutation CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
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: C0854723
Disease:
Retinal Dystrophies 		C 0.700 CausalMutation CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
dbSNP: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		C 0.700 CausalMutation CLINVAR
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
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 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: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR
dbSNP: rs527236099
rs527236099
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR
dbSNP: rs200595749
rs200595749
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.720 GeneticVariation UNIPROT
dbSNP: rs200595749
rs200595749
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.720 GeneticVariation BEFREE In tissue samples, a single breast cancer tissue sample showed heterozygosity at locus c.5834G>A within the ZFYVE26 gene (Zinc finger FYVE domain-containing gene 26). 21691751 2011
dbSNP: rs200595749
rs200595749
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.720 GeneticVariation BEFREE A mutation in FYVE-CENT (R1945Q) associated with br</span>east cancer abolished the interaction between FYVE-CENT and Beclin 1, and reduced the localization of these proteins at the intercellular bridge during cytokinesis. 21455500 2011
dbSNP: rs1049504575
rs1049504575
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		T 0.700 GeneticVariation CLINVAR SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. 19805727 2009
dbSNP: rs1057518016
rs1057518016
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		A 0.700 CausalMutation CLINVAR Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. 24833714 2014