rs387907004, MAFB

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
0.800 GeneticVariation UNIPROT Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 22387013 2012
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
0.800 CausalMutation CLINVAR