rs104893834, DMP1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypophosphatemic Rickets, Autosomal Recessive, 1
CUI: C4551495
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 1
0.700 CausalMutation CLINVAR
Autosomal recessive hypophosphatemic vitamin D refractory rickets
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
0.010 GeneticVariation BEFREE We previously demonstrated that the mutations Met1Val (M1V) and the deletion of nucleotides 1484-1490 (1484-1490del) in Dentin matrix protein-1 (DMP1) cause the novel disorder autosomal recessive hypophosphatemic rickets (ARHR), which is associated with elevated fibroblast growth factor-23 (FGF23). 19007919 2009