Disease: Anauxetic dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation disease BEFREE Numerous RMRP mutations have been reported in individuals with cartilage-hair hypoplasia (CHH) but, to date, only three POP1 mutations have been described in two families with features similar to anauxetic dysplasia (AD). 28067412 2017
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation disease BEFREE Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, cartilage hair hypoplasia (CHH). 27380734 2016
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation disease CLINVAR Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 25663137 2015
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 Biomarker disease BEFREE Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP) complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia. 21455487 2011
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation disease BEFREE The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. 21396580 2011
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation disease CLINVAR Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. 21570718 2011
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation disease CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272 2008
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation disease CLINVAR Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897 2007
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation disease CLINVAR Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. 17937437 2007
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation disease CLINVAR RNase MRP RNA and human genetic diseases. 17189938 2007
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation disease CLINVAR Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897 2007
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 AlteredExpression disease BEFREE Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897 2007
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation disease CLINVAR Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. 16832578 2006
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation disease CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329 2006
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation disease CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329 2006
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation disease CLINVAR The natural history of severe anemia in cartilage-hair hypoplasia. 16097009 2005
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation disease CLINVAR An effective case of growth hormone treatment on cartilage-hair hypoplasia. 15780958 2005
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation disease CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706 2005
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation disease CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002 2005
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation disease CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706 2005
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation disease CLINVAR The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases. 12888988 2003
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation disease CLINVAR RMRP mutations in Japanese patients with cartilage-hair hypoplasia. 14608646 2003
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation disease CLINVAR Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene. 14569125 2003
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation disease CLINVAR RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. 11940090 2002
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation disease CLINVAR Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. 12107819 2002