B2M, beta-2-microglobulin, 567

N. diseases: 352; N. variants: 6
Disease: Hypoproteinemia, Hypercatabolic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855796
Disease: Hypoproteinemia, Hypercatabolic
Hypoproteinemia, Hypercatabolic 		0.710 Biomarker disease GENOMICS_ENGLAND β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system. 25702838 2015
CUI: C1855796
Disease: Hypoproteinemia, Hypercatabolic
Hypoproteinemia, Hypercatabolic 		0.710 GeneticVariation disease BEFREE We concluded that a beta(2)m gene mutation underlies the hypercatabolism and reduced serum levels of albumin and IgG in the two siblings with familial hypercatabolic hypoproteinemia. 16549777 2006
CUI: C1855796
Disease: Hypoproteinemia, Hypercatabolic
Hypoproteinemia, Hypercatabolic 		0.710 GeneticVariation disease UNIPROT Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene. 16549777 2006
CUI: C1855796
Disease: Hypoproteinemia, Hypercatabolic
Hypoproteinemia, Hypercatabolic 		0.710 CausalMutation disease CLINVAR
CUI: C1855796
Disease: Hypoproteinemia, Hypercatabolic
Hypoproteinemia, Hypercatabolic 		0.710 Biomarker disease CTD_human