ADO, 2-aminoethanethiol dioxygenase, 84890

N. diseases: 41; N. variants: 3
Disease: Autosomal Recessive Osteopetrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
Autosomal Recessive Osteopetrosis 		0.030 Biomarker disease BEFREE Mutations in the CLCN7 gene result in autosomal dominant osteopetrosis type II (ADO‑II), autosomal recessive osteopetrosis (ARO) and intermediate ARO (IARO). 30942407 2019
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
Autosomal Recessive Osteopetrosis 		0.030 GeneticVariation disease BEFREE Mutations in the chloride channel 7 gene (CLCN7) lead to chloride channel defect, which results in autosomal dominant osteopetrosis type II (ADO-II), autosomal recessive osteopetrosis (ARO), and intermediate autosomal recessive osteopetrosis (IARO). 26395888 2016
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
Autosomal Recessive Osteopetrosis 		0.030 GeneticVariation disease BEFREE We present the first Chinese IARO patient with a novel homozygous variant in CLCN7 gene (p. Pro470Leu) and an ADO II patient with a heterozygous variant in CLCN7 gene (p. Arg286Trp). 21962762 2012