rs104894476
GPHN;ZFYVE26;RDH12
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
rs104894476
GPHN;ZFYVE26;RDH12
LEBER CONGENITAL AMAUROSIS 13
0.800
GeneticVariation
UNIPROT
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
15322982
2004
rs28940313
GPHN;ZFYVE26;RDH12
LEBER CONGENITAL AMAUROSIS 13
0.800
GeneticVariation
UNIPROT
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
15322982
2004
rs28940313
GPHN;ZFYVE26;RDH12
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
rs104894476
GPHN;ZFYVE26;RDH12
LEBER CONGENITAL AMAUROSIS 13
G
0.800
CausalMutation
CLINVAR
rs28940313
GPHN;ZFYVE26;RDH12
LEBER CONGENITAL AMAUROSIS 13
G
0.800
GeneticVariation
CLINVAR
rs28940313
GPHN;ZFYVE26;RDH12
LEBER CONGENITAL AMAUROSIS 13
G
0.800
CausalMutation
CLINVAR
rs200595749
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
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
rs200595749
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
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
rs200595749
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Malignant neoplasm of breast
0.720
GeneticVariation
UNIPROT
rs1555394376
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
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
rs370828455
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
T
0.700
CausalMutation
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545
2016
rs558285072
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic Paraplegia
A
0.700
CausalMutation
CLINVAR
Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum.
27544497
2016
rs558285072
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
GeneticVariation
CLINVAR
Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum.
27544497
2016
rs774809466
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
CausalMutation
CLINVAR
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
27217339
2016
rs386834261
GPHN;ZFYVE26;RDH12
LEBER CONGENITAL AMAUROSIS 13
C
0.700
CausalMutation
CLINVAR
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
26047050
2015
rs752283089
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Movement Disorders
T
0.700
GeneticVariation
CLINVAR
Exome sequencing in undiagnosed inherited and sporadic ataxias.
25497598
2015
rs768176054
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
C
0.700
GeneticVariation
CLINVAR
Exome sequencing in undiagnosed inherited and sporadic ataxias.
25497598
2015
rs869312914
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Movement Disorders
A
0.700
GeneticVariation
CLINVAR
Exome sequencing in undiagnosed inherited and sporadic ataxias.
25497598
2015
rs941230062
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
GeneticVariation
CLINVAR
Exome sequencing in undiagnosed inherited and sporadic ataxias.
25497598
2015
rs981804211
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
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
rs1057518016
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
CausalMutation
CLINVAR
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
24833714
2014
rs1239043055
GPHN;ZFYVE26;RDH12
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
rs12891047
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
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
rs12891047
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
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