Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation CLINVAR Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361

2001
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005