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
rs200595749
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Malignant neoplasm of breast
0.720
GeneticVariation
UNIPROT
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
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
rs12891047
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
AMYOTROPHIC LATERAL SCLEROSIS 1
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 6 (disorder)
0.700
GeneticVariation
GWASCAT
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
24529757
2014
rs200595749
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Breast Carcinoma
0.020
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
Breast Carcinoma
0.020
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
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
rs118204049
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
CausalMutation
CLINVAR
rs118204049
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
GeneticVariation
CLINVAR
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
18394578
2008
rs118204050
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
CausalMutation
CLINVAR
rs1214483973
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
GeneticVariation
CLINVAR
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
23733235
2013
rs1224762841
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
GeneticVariation
CLINVAR
rs1555395524
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
GeneticVariation
CLINVAR
rs1555395525
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
GeneticVariation
CLINVAR
rs1555396303
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
GeneticVariation
CLINVAR
rs1555398778
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
GeneticVariation
CLINVAR
rs200832994
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic paraplegia 15, autosomal recessive
A
0.700
GeneticVariation
CLINVAR
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.
19917823
2009
rs200832994
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Spastic Paraplegia
A
0.700
CausalMutation
CLINVAR