Disease: Cartilage-hair hypoplasia ×
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 CausalMutation CLINVAR Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 25663137 2015
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 CausalMutation CLINVAR Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. 20375313 2010
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 CausalMutation CLINVAR Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. 19626344 2009
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 CausalMutation 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 CausalMutation 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 CausalMutation CLINVAR A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. 17015150 2006
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 CausalMutation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329 2006
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 CausalMutation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706 2005
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
0.700 CausalMutation CLINVAR Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. 12107819 2002