Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 Biomarker disease CTD_human
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 Biomarker disease MGD Morphological evidence of reduced bone resorption in the osteosclerotic (oc) mouse. 3976544 1985
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 Biomarker disease MGD Osteosclerosis, a recessive skeletal mutation on chromosome 19 in the mouse. 3998439 1985
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 Biomarker disease MGD Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification. 10581033 1999
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 Biomarker disease MGD The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants. 10709991 2000
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 CausalMutation disease CLINVAR Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. 10888887 2000
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 GeneticVariation disease CLINVAR Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. 10942435 2000
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 GeneticVariation disease UNIPROT The mutational spectrum of human malignant autosomal recessive osteopetrosis. 11532986 2001
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 CausalMutation disease CLINVAR The mutational spectrum of human malignant autosomal recessive osteopetrosis. 11532986 2001
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 GeneticVariation disease CLINVAR The mutational spectrum of human malignant autosomal recessive osteopetrosis. 11532986 2001
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 CausalMutation disease CLINVAR Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis. 12507890 2003
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 GeneticVariation disease UNIPROT Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. 12552563 2003
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 CausalMutation disease CLINVAR Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. 12552563 2003
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 GeneticVariation disease CLINVAR TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. 15300850 2004
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 GeneticVariation disease UNIPROT TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. 15300850 2004
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 CausalMutation disease CLINVAR TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. 15300850 2004
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 Biomarker disease MGD The a3 isoform of V-ATPase regulates insulin secretion from pancreatic beta-cells. 17046993 2006
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 CausalMutation disease CLINVAR Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. 18715141 2009
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 GeneticVariation disease CLINVAR A single-center experience in 20 patients with infantile malignant osteopetrosis. 19507210 2009
Entrez Id: 645811
Gene Symbol: CCDC154
CCDC154 		0.200 Biomarker disease MGD A new osteopetrosis mutant mouse strain (ntl) with odontoma-like proliferations and lack of tooth roots. 20121924 2009
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 GeneticVariation disease CLINVAR Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients. 21042819 2011
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 CausalMutation disease CLINVAR Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications. 22231430 2012
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 GeneticVariation disease CLINVAR Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications. 22231430 2012
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		0.900 CausalMutation disease CLINVAR Infantile malignant osteopetrosis. 23721911 2013