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 A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. 27569544 2016
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 GeneticVariation CLINVAR Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 25663137 2015
Anauxetic dysplasia
CUI: C1846796
Disease: Anauxetic dysplasia
0.700 GeneticVariation CLINVAR Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 25663137 2015
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 GeneticVariation CLINVAR RNase MRP and disease. 21956908 2012
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 GeneticVariation CLINVAR The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. 21396580 2011
Anauxetic dysplasia
CUI: C1846796
Disease: Anauxetic dysplasia
0.700 GeneticVariation CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272 2008
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 GeneticVariation CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272 2008
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 GeneticVariation CLINVAR Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897 2007
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 GeneticVariation CLINVAR RNase MRP RNA and human genetic diseases. 17189938 2007
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706 2005
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 GeneticVariation CLINVAR Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. 12107819 2002
Anauxetic dysplasia
CUI: C1846796
Disease: Anauxetic dysplasia
0.700 GeneticVariation CLINVAR Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. 12107819 2002