rs145789868, MMP21

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HETEROTAXY, VISCERAL, 7, AUTOSOMAL
CUI: C4225217
Disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL
0.800 GeneticVariation UNIPROT Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 26437029 2015
HETEROTAXY, VISCERAL, 7, AUTOSOMAL
CUI: C4225217
Disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL
0.800 GeneticVariation UNIPROT A human laterality disorder caused by a homozygous deleterious mutation in MMP21. 26429889 2015
HETEROTAXY, VISCERAL, 7, AUTOSOMAL
CUI: C4225217
Disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL
0.800 GeneticVariation UNIPROT MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. 26437028 2015
HETEROTAXY, VISCERAL, 7, AUTOSOMAL
CUI: C4225217
Disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL
0.800 CausalMutation CLINVAR