Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9842
Gene Symbol: PLEKHM1
PLEKHM1
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis
0.450 GeneticVariation LHGDN 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

Entrez Id: 9842
Gene Symbol: PLEKHM1
PLEKHM1
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis
0.450 GeneticVariation LHGDN Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. 17404618

2007