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:

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:

rs981804211

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs950356390

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0037772
Disease:

Spastic Paraplegia

GGCCCTTC

0.700

CausalMutation

CLINVAR

dbSNP:

rs941230062

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

Exome sequencing in undiagnosed inherited and sporadic ataxias.

25497598

2015

dbSNP:

rs935301743

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

dbSNP:

rs878855013

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0037772
Disease:

Spastic Paraplegia

0.700

GeneticVariation

CLINVAR

dbSNP:

rs878855011

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0037772
Disease:

Spastic Paraplegia

0.700

CausalMutation

CLINVAR

dbSNP:

rs869312914

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Exome sequencing in undiagnosed inherited and sporadic ataxias.

25497598

2015

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:

rs869312914

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

dbSNP:

rs868672014

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

dbSNP:

rs774809466

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0037772
Disease:

Spastic Paraplegia

0.700

CausalMutation

CLINVAR

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:

rs774809466

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

CausalMutation

CLINVAR

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

27217339

2016

dbSNP:

rs771393692

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

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:

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:

rs769329153

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

dbSNP:

rs768366199

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0037772
Disease:

Spastic Paraplegia

0.700

CausalMutation

CLINVAR

dbSNP:

rs768176054

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

Exome sequencing in undiagnosed inherited and sporadic ataxias.

25497598

2015

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:

rs767164213

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

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:

rs760559263

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR

dbSNP:

rs760001730

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C1849128
Disease:

Spastic paraplegia 15, autosomal recessive

0.700

GeneticVariation

CLINVAR