|
| 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 |
GeneticVariation
|
disease |
CLINVAR |
A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.
|
24989235 |
2015 |
|
| 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis.
|
12507890 |
2003 |
|
| 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 |
Malignant infantile osteopetrosis: case report with review of literature.
|
25018813 |
2014 |
|
| 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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |