rs1291061962, CLCN7

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteopetrosis Autosomal Dominant Type 2
CUI: C3179239
Disease: Osteopetrosis Autosomal Dominant Type 2
0.700 GeneticVariation UNIPROT Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients. 26395888 2016
Osteopetrosis Autosomal Dominant Type 2
CUI: C3179239
Disease: Osteopetrosis Autosomal Dominant Type 2
0.700 GeneticVariation UNIPROT Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. 19953639 2010
Osteopetrosis Autosomal Dominant Type 2
CUI: C3179239
Disease: Osteopetrosis Autosomal Dominant Type 2
0.700 GeneticVariation UNIPROT Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II). 19288050 2009
Osteopetrosis Autosomal Dominant Type 2
CUI: C3179239
Disease: Osteopetrosis Autosomal Dominant Type 2
0.700 GeneticVariation UNIPROT Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. 14584882 2003
Osteopetrosis Autosomal Dominant Type 2
CUI: C3179239
Disease: Osteopetrosis Autosomal Dominant Type 2
0.700 GeneticVariation UNIPROT Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. 11741829 2001
Osteopetrosis
CUI: C0029454
Disease: Osteopetrosis
0.010 GeneticVariation BEFREE Our data indicated that the mutation CLCN7 (R286W) may be a cause of the osteopetrosis family. 31412925 2019
Autosomal Recessive Osteopetrosis
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
0.010 GeneticVariation 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