CD40, CD40 molecule, 958

N. diseases: 528; N. variants: 21
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931586
rs28931586
Entrez Id: 958
Gene Symbol: CD40
CD40
CUI: C1720957
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 3 		0.800 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs28931586
rs28931586
Entrez Id: 958
Gene Symbol: CD40
CD40
CUI: C1720957
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 3 		0.800 GeneticVariation UNIPROT Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. 11675497 2001
dbSNP: rs28931586
rs28931586
Entrez Id: 958
Gene Symbol: CD40
CD40
CUI: C1720957
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 3 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1568905451
rs1568905451
Entrez Id: 958
Gene Symbol: CD40
CD40
CUI: C1720957
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1568906348
rs1568906348
Entrez Id: 958
Gene Symbol: CD40
CD40
CUI: C1720957
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 3 		T 0.700 CausalMutation CLINVAR