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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5784
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Protein tyrosine phosphatase non-receptor type 14 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PTPN14 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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CATLPH, PEZ, PTP36, PTPD2 |
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Chromosome
Chromosome number
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1 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1q32.3-q41 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic tran |
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
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| Disease merge term |
Disease name |
dbSNP ID |
References |
| Lymphedema-Posterior Choanal Atresia Syndrome |
lymphedema-posterior choanal atresia syndrome |
rs1558092113 |
N/A |
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Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Carcinoma |
Basal cell carcinoma |
N/A |
N/A |
GWAS |
| Melanoma |
Melanoma |
N/A |
N/A |
GWAS |
| Pulmonary Fibrosis |
Idiopathic pulmonary fibrosis |
N/A |
N/A |
GWAS |
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