Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84890
Gene Symbol: ADO
ADO
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.050 GeneticVariation BEFREE There are three types of osteopetrosis: autosomal recessive osteopetrosis (ARO), autosomal dominant osteopetrosis type II (ADO II), and intermediate autosomal recessive osteopetrosis (IARO). 21962762

2012
Entrez Id: 84890
Gene Symbol: ADO
ADO
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.050 GeneticVariation BEFREE The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect. 20830208

2010
Entrez Id: 84890
Gene Symbol: ADO
ADO
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.050 GeneticVariation BEFREE They range from a devastating neurometabolic disease, through severe malignant infantile osteopetrosis (OP) to two more benign conditions principally affecting adults [autosomal dominant OP (ADO I and II)]. 12662317

2003
Entrez Id: 84890
Gene Symbol: ADO
ADO
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.050 GeneticVariation BEFREE Because some ARO patients have mutations in both copies of the ClCN7 gene, ADO II is allelic with a subset of ARO cases. 11741829

2001
Entrez Id: 84890
Gene Symbol: ADO
ADO
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.050 Biomarker BEFREE Although other forms of osteopetrosis are considerably more severe, the name "benign osteopetrosis" previously used for ADO II is probably a misnomer. 10617161

2000