Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
0.060 GeneticVariation group BEFREE However, it is not clear why mutations in RMRP RNA lead to skeletal dysplasia. 28743979 2017
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
0.060 GeneticVariation group BEFREE Cartilage-hair hypoplasia is a rare, autosomal recessive skeletal dysplasia, caused by mutations in the RMRP gene. 21813924 2011
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
0.060 Biomarker group BEFREE Cartilage-hair hypoplasia is a short limbed skeletal dysplasia associated with impairments in host-defense. 19150606 2009
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
0.060 GeneticVariation group BEFREE McKusick type metaphyseal chondrodysplasia, or cartilage hair hypoplasia (CHH), is a rare autosomal recessive osteochondrodysplasia secondary to a mutation in the RMRP gene. 19626344 2009
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
0.060 GeneticVariation group BEFREE Cartilage-hair hypoplasia (CHH) is an autosomal recessive skeletal dysplasia of unknown pathogenesis leading to short-limbed stature. 7981754 1993
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
0.060 Biomarker group BEFREE Cartilage-hair hypoplasia is an osteochondrodysplasia with short-limbed short stature. 1542548 1992