rs137854438, FAM83H

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amelogenesis Imperfecta, Type III
CUI: C0399376
Disease: Amelogenesis Imperfecta, Type III
0.700 CausalMutation CLINVAR
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
0.010 GeneticVariation BEFREE Considering Fam83h<sup>-/-</sup> mice showed no enamel phenotype, while Fam83h<sup>Tr/Tr</sup> (p.Tyr297*) mice displayed obvious enamel malformations, we conclude that FAM83H truncation mutations causing ADHCAI in humans disturb amelogenesis through a neomorphic mechanism, rather than haploinsufficiency. 31060110 2019