DisGeNET - a database of gene-disease associations

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1691228
Disease:	Cystic Kidney Diseases

Cystic Kidney Diseases

0.300

Biomarker

group

CTD_human

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

2010