DisGeNET - a database of gene-disease associations

ZFYVE26, zinc finger FYVE-type containing 26, 23503

N. diseases: 79; N. variants: 59

Disease: LEBER CONGENITAL AMAUROSIS 13 ×

Variant: rs28940313 ×

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:

rs28940313

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:

rs28940313

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:

rs28940313

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

GPHN;ZFYVE26;RDH12

CUI:	C2675186
Disease:

LEBER CONGENITAL AMAUROSIS 13

0.800

GeneticVariation

CLINVAR

dbSNP:

rs28940313

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

GPHN;ZFYVE26;RDH12

CUI:	C2675186
Disease:

LEBER CONGENITAL AMAUROSIS 13

0.800

CausalMutation

CLINVAR