Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748197
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3
OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 		0.600 GeneticVariation disease UNIPROT Characterization of a Relatively Malignant Form of Osteopetrosis Caused by a Novel Mutation in the PLEKHM1 Gene. 27291868 2016
CUI: C4748197
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3
OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 		0.600 GeneticVariation disease UNIPROT A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts. 17997709 2008
CUI: C4748197
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3
OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 		0.600 Biomarker disease GENOMICS_ENGLAND A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts. 17997709 2008
CUI: C4748197
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3
OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 		0.600 CausalMutation disease CLINVAR