|
| Entrez Id: |
10312 |
| Gene Symbol: |
TCIRG1 |
TCIRG1
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.
|
24989235 |
2015 |
|
| Entrez Id: |
10312 |
| Gene Symbol: |
TCIRG1 |
TCIRG1
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
| Entrez Id: |
10312 |
| Gene Symbol: |
TCIRG1 |
TCIRG1
|
0.900 |
Biomarker
|
disease |
MGD |
Osteopetrorickets due to Snx10 deficiency in mice results from both failed osteoclast activity and loss of gastric acid-dependent calcium absorption.
|
25811986 |
2015 |
|
| Entrez Id: |
10312 |
| Gene Symbol: |
TCIRG1 |
TCIRG1
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
|
25829125 |
2015 |
|
| Entrez Id: |
10312 |
| Gene Symbol: |
TCIRG1 |
TCIRG1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy.
|
26777052 |
2015 |
|
| Entrez Id: |
10312 |
| Gene Symbol: |
TCIRG1 |
TCIRG1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Malignant infantile osteopetrosis: case report with review of literature.
|
25018813 |
2014 |
|
| Entrez Id: |
10312 |
| Gene Symbol: |
TCIRG1 |
TCIRG1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis.
|
24101165 |
2014 |
|
| Entrez Id: |
10312 |
| Gene Symbol: |
TCIRG1 |
TCIRG1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.
|
24535484 |
2014 |
|
| Entrez Id: |
10312 |
| Gene Symbol: |
TCIRG1 |
TCIRG1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Infantile malignant osteopetrosis.
|
23721911 |
2013 |
|
| 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 |
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 |
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: |
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 |
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 |
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 |
Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis.
|
12507890 |
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 |
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 |
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 |