DisGeNET - a database of gene-disease associations

IMMUNODEFICIENCY 42, C4225266

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6097
Gene Symbol:	RORC

RORC

0.600

GermlineCausalMutation

disease

ORPHANET

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.

26160376

2015

Entrez Id:	6097
Gene Symbol:	RORC

RORC

0.600

GeneticVariation

disease

UNIPROT

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.

26160376

2015

Entrez Id:	6097
Gene Symbol:	RORC

RORC

0.600

Biomarker

disease

GENOMICS_ENGLAND

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.

26160376

2015

Entrez Id:	6097
Gene Symbol:	RORC

RORC

0.600

Biomarker

disease

CTD_human