B2M, beta-2-microglobulin, 567

N. diseases: 18; N. variants: 6
Disease: Hypoproteinemia, Hypercatabolic ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894481
rs104894481
Entrez Id: 567;197135
Gene Symbol: B2M;PATL2
B2M;PATL2
CUI: C1855796
Disease:
Hypoproteinemia, Hypercatabolic 		0.800 GeneticVariation UNIPROT Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene. 16549777 2006
dbSNP: rs104894481
rs104894481
Entrez Id: 567;197135
Gene Symbol: B2M;PATL2
B2M;PATL2
CUI: C1855796
Disease:
Hypoproteinemia, Hypercatabolic 		C 0.800 CausalMutation CLINVAR