CD40, CD40 molecule, 958

N. diseases: 528; N. variants: 21
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1720957
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 3 		0.700 GeneticVariation disease UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
CUI: C1720957
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 3 		0.700 Biomarker disease GENOMICS_ENGLAND First report of successful stem cell transplantation in a child with CD40 deficiency. 17502893 2007
CUI: C1720957
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 3 		0.700 GermlineCausalMutation disease ORPHANET Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. 11675497 2001
CUI: C1720957
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 3 		0.700 GeneticVariation disease UNIPROT Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. 11675497 2001
CUI: C1720957
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 3 		0.700 Biomarker disease CTD_human
CUI: C1720957
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 3 		0.700 CausalMutation disease CLINVAR
CUI: C1720957
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 3 		0.700 Biomarker disease GENOMICS_ENGLAND