Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6913
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Gene name
Gene Name - the full gene name approved by the HGNC.
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T-box transcription factor 15 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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TBX15 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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TBX14 |
Chromosome
Chromosome number
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1 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p12 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Brachydactyly |
Brachydactyly |
rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142 View all (22 more) |
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Hydrocephalus |
Hydrocephalus |
rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546 |
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Macrocephaly |
Macrocephaly |
rs786204854, rs764333096, rs1557739557 |
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Microphthalmos |
Microphthalmos |
rs794726862, rs1329285216 |
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Pelviscapular dysplasia |
Pelviscapular dysplasia |
rs2101422204, rs2101422164 |
24039145, 19068278 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Ambiguous genitalia |
Ambiguous genitalia, female |
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ClinVar |
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