Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation CLINVAR Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 25663137

2015
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation CLINVAR Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. 21570718

2011
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272

2008
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation CLINVAR Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897

2007
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation CLINVAR Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. 17937437

2007
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation CLINVAR RNase MRP RNA and human genetic diseases. 17189938

2007
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation CLINVAR Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897

2007
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation CLINVAR Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. 16832578

2006
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation CLINVAR The natural history of severe anemia in cartilage-hair hypoplasia. 16097009

2005
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation CLINVAR An effective case of growth hormone treatment on cartilage-hair hypoplasia. 15780958

2005
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002

2005
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation 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
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation CLINVAR RMRP mutations in Japanese patients with cartilage-hair hypoplasia. 14608646

2003
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation CLINVAR Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene. 14569125

2003
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation 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
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation CLINVAR Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. 12107819

2002
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation CLINVAR Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. 12107819

2002
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation CLINVAR Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361

2001
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation CLINVAR Astrobiology. Putting a lid on life on Europa. 11701897

2001
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 GeneticVariation CLINVAR Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361

2001
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		0.450 CausalMutation CLINVAR Ribonuclease P: a ribonucleoprotein enzyme. 11006544

2000