Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65108
Gene Symbol: MARCKSL1
MARCKSL1
0.060 GeneticVariation disease BEFREE Mutations in the genomic locus for MRP RNA cause pleiotropic human diseases, including cartilage hair hypoplasia (CHH). 28115465 2017
Entrez Id: 65108
Gene Symbol: MARCKSL1
MARCKSL1
0.060 GeneticVariation disease BEFREE Point mutations in RNase MRP cause human cartilage-hair hypoplasia (CHH), and several disease-causing mutations map to RMRP-S1 and -S2. 24009312 2014
Entrez Id: 65108
Gene Symbol: MARCKSL1
MARCKSL1
0.060 GeneticVariation disease BEFREE In this review article we will, after describing the biochemical aspects of RNase MRP, discuss the targeting of RNase MRP in autoimmunity and the role of mutations in the RNase MRP RNA gene in CHH. 21956908 2012
Entrez Id: 65108
Gene Symbol: MARCKSL1
MARCKSL1
0.060 Biomarker disease BEFREE Because the known substrates of mammalian RNase MRP, pre-ribosomal RNA, and RNA involved in mitochondrial DNA replication are not likely involved in CHH, we analyzed the effects of RNase MRP (and the structurally related RNase P) depletion on mRNAs using DNA microarrays. 21053045 2011
Entrez Id: 65108
Gene Symbol: MARCKSL1
MARCKSL1
0.060 GeneticVariation disease BEFREE Our data are the first to provide insight into the molecular mechanism by which CHH-associated mutations affect the function of RNase MRP. 18164267 2008
Entrez Id: 65108
Gene Symbol: MARCKSL1
MARCKSL1
0.060 GeneticVariation disease BEFREE Pleiotropic, recessively inherited cartilage-hair hypoplasia (CHH) is due to mutations in the untranslated RMRP gene on chromosome 9p13-p12 encoding the RNA component of RNase MRP endoribonuclease. 12107819 2002