Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 GeneticVariation CLINVAR CHIPS for genetic testing to improve a regional clinical genetic service. 25046119 2015
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 GeneticVariation CLINVAR RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs. 23315997 2013
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 GeneticVariation CLINVAR Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. 16832578 2006
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329 2006
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706 2005