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: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation CLINVAR Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. 18164267

2008
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation CLINVAR RNase MRP RNA and human genetic diseases. 17189938

2007
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 CausalMutation CLINVAR A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. 17015150

2006
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation CLINVAR Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. 20375313

2010
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation 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: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation CLINVAR Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. 20112607

2010
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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