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:

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:

rs774809466

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:

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:

rs386834261

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

GPHN;ZFYVE26;RDH12

CUI:	C2675186
Disease:

LEBER CONGENITAL AMAUROSIS 13

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:

rs752283089

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

24267886

2013

dbSNP:

rs869312914

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

24267886

2013

dbSNP:

rs386834261

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

GPHN;ZFYVE26;RDH12

CUI:	C2675186
Disease:

LEBER CONGENITAL AMAUROSIS 13

0.700

CausalMutation

CLINVAR

RDH12 retinopathy: novel mutations and phenotypic description.

22065924

2011

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:

rs200832994

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.

19917823

2009

dbSNP:

rs767164213

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0037772
Disease:

Spastic Paraplegia

0.700

GeneticVariation

CLINVAR

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

19805727

2009

dbSNP:

rs769329153

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0037772
Disease:

Spastic Paraplegia

0.700

GeneticVariation

CLINVAR

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

19805727

2009

dbSNP:

rs981804211

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:

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:

rs767164213

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0037772
Disease:

Spastic Paraplegia

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:

rs769329153

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0037772
Disease:

Spastic Paraplegia

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:

rs386834261

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

GPHN;ZFYVE26;RDH12

CUI:	C2675186
Disease:

LEBER CONGENITAL AMAUROSIS 13

0.700

CausalMutation

CLINVAR

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

17389517

2007

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:

rs386834261

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

GPHN;ZFYVE26;RDH12

CUI:	C2675186
Disease:

LEBER CONGENITAL AMAUROSIS 13

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

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

GPHN;ZFYVE26;RDH12

CUI:	C4316870
Disease:

Abnormality of the eye

0.700

CausalMutation

CLINVAR

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

15258582

2004

dbSNP:

rs386834261

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

GPHN;ZFYVE26;RDH12

CUI:	C0854723
Disease:

Retinal Dystrophies

0.700

CausalMutation

CLINVAR

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

15258582

2004

dbSNP:

rs370828455

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0037772
Disease:

Spastic Paraplegia

0.700

CausalMutation

CLINVAR

[Koryak of Kamchatka. The genetic differentiation of the population].

6944241

1981

dbSNP:

rs118204049

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

CausalMutation

CLINVAR

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