RORC, RAR related orphan receptor C, 6097

N. diseases: 88; N. variants: 6
Disease: IMMUNODEFICIENCY 42 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs774357869
rs774357869
Entrez Id: 6097
Gene Symbol: RORC
RORC
CUI: C4225266
Disease:
IMMUNODEFICIENCY 42 		0.800 GeneticVariation UNIPROT IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. 26160376 2015
dbSNP: rs774357869
rs774357869
Entrez Id: 6097
Gene Symbol: RORC
RORC
CUI: C4225266
Disease:
IMMUNODEFICIENCY 42 		A 0.800 CausalMutation CLINVAR
dbSNP: rs863225091
rs863225091
Entrez Id: 6097
Gene Symbol: RORC
RORC
CUI: C4225266
Disease:
IMMUNODEFICIENCY 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs863225092
rs863225092
Entrez Id: 6097
Gene Symbol: RORC
RORC
CUI: C4225266
Disease:
IMMUNODEFICIENCY 42 		A 0.700 CausalMutation CLINVAR