Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752283089
rs752283089
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs752283089
rs752283089
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
dbSNP: rs746606852
rs746606852
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs558285072
rs558285072
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum. 27544497 2016
dbSNP: rs558285072
rs558285072
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		A 0.700 GeneticVariation CLINVAR Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum. 27544497 2016
dbSNP: rs545219731
rs545219731
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		T 0.700 GeneticVariation 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: rs387907057
rs387907057
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		A 0.700 CausalMutation CLINVAR
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: rs370837940
rs370837940
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs370828455
rs370828455
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR [Koryak of Kamchatka. The genetic differentiation of the population]. 6944241 1981
dbSNP: rs370828455
rs370828455
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
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: rs200832994
rs200832994
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		A 0.700 GeneticVariation CLINVAR Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. 19917823 2009