DisGeNET - a database of gene-disease associations

MFSD8, major facilitator superfamily domain containing 8, 256471

N. diseases: 50; N. variants: 28

Disease: Ceroid Lipofuscinosis, Neuronal, 7 ×

Variant: rs1560776422 ×

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:

rs1560776422

rs1560776422

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

A

0.700

CausalMutation

CLINVAR