Disease: Anauxetic dysplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Anauxetic dysplasia
CUI: C1846796
Disease: Anauxetic dysplasia
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 Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272 2008
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