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 		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 		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 		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: 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 		G 0.800 CausalMutation CLINVAR
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: rs200595749
rs200595749
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.720 GeneticVariation UNIPROT
dbSNP: rs1555394376
rs1555394376
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		CA 0.700 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
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: 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: rs774809466
rs774809466
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		A 0.700 CausalMutation CLINVAR Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 27217339 2016
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: 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: rs768176054
rs768176054
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		C 0.700 GeneticVariation CLINVAR Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
dbSNP: rs869312914
rs869312914
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
dbSNP: rs941230062
rs941230062
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		A 0.700 GeneticVariation CLINVAR Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
dbSNP: rs981804211
rs981804211
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
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
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: rs12891047
rs12891047
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.700 GeneticVariation GWASCAT Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. 24529757 2014
dbSNP: rs12891047
rs12891047
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C3542025
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation GWASCAT Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. 24529757 2014