RORC, RAR related orphan receptor C, 6097

N. diseases: 88; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225266
Disease: IMMUNODEFICIENCY 42
IMMUNODEFICIENCY 42
0.600 GermlineCausalMutation disease ORPHANET IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. 26160376 2015
CUI: C4225266
Disease: IMMUNODEFICIENCY 42
IMMUNODEFICIENCY 42
0.600 GeneticVariation disease UNIPROT IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. 26160376 2015
CUI: C4225266
Disease: IMMUNODEFICIENCY 42
IMMUNODEFICIENCY 42
0.600 Biomarker disease GENOMICS_ENGLAND IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. 26160376 2015
CUI: C4225266
Disease: IMMUNODEFICIENCY 42
IMMUNODEFICIENCY 42
0.600 Biomarker disease CTD_human