DisGeNET - a database of gene-disease associations

ZFYVE26, zinc finger FYVE-type containing 26, 23503

N. diseases: 79; N. variants: 59

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

Entrez Id:	10243;23503;145226
Gene Symbol:	GPHN;ZFYVE26;RDH12

GPHN;ZFYVE26;RDH12

CUI:	C2675186
Disease:

LEBER CONGENITAL AMAUROSIS 13

0.800

CausalMutation

CLINVAR

dbSNP:

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:

rs1049504575

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.

19805727

2009

dbSNP:

rs1057518016

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

CausalMutation

CLINVAR

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

24833714

2014

dbSNP:

rs118204049

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

CausalMutation

CLINVAR

dbSNP:

rs118204049

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

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

dbSNP:

rs118204050

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

CausalMutation

CLINVAR

dbSNP:

rs1186788102

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1214483973

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

23733235

2013

dbSNP:

rs1224762841

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1239043055

Entrez Id:	10243;23503;145226
Gene Symbol:	GPHN;ZFYVE26;RDH12

GPHN;ZFYVE26;RDH12

CUI:	C2675186
Disease:

LEBER CONGENITAL AMAUROSIS 13

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

Entrez Id:	10243;23503;145226
Gene Symbol:	GPHN;ZFYVE26;RDH12

GPHN;ZFYVE26;RDH12

CUI:	C0035334
Disease:

Retinitis Pigmentosa

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1239043055

Entrez Id:	10243;23503;145226
Gene Symbol:	GPHN;ZFYVE26;RDH12

GPHN;ZFYVE26;RDH12

CUI:	C2675186
Disease:

LEBER CONGENITAL AMAUROSIS 13

0.700

GeneticVariation

CLINVAR

Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

24474277

2014

dbSNP:

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

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

dbSNP:

rs12891047

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1862939
Disease:

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

dbSNP:

rs12891047

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1842675
Disease:

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

dbSNP:

rs137907310

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

dbSNP:

rs137907310

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

CausalMutation

CLINVAR

dbSNP:

rs1470672632

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555393005

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555393181

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555393338

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555393393

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR