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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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89866
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Gene name
Gene Name - the full gene name approved by the HGNC.
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SEC16 homolog B, endoplasmic reticulum export factor |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SEC16B |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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LZTR2, PGPR-p117, RGPR, RGPR-p117, SEC16S |
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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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1q25.2 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 17192411]).[supplied by OMIM, Jun 2009] |
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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 |
| Breast Cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Obesity |
Obesity |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
|
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Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Breast Neoplasms |
Associate
|
29436922 |
| Diabetes Mellitus Type 2 |
Associate
|
20712903 |
| Endometrial Neoplasms |
Associate
|
21976109 |
| Genu Varum |
Associate
|
36916446 |
| Glucocorticoid Receptor Deficiency |
Associate
|
30026463 |
| Growth Disorders |
Associate
|
36916446 |
| Insulin Resistance |
Associate
|
32260174 |
| Muscle Hypotonia |
Associate
|
36916446 |
| Obesity |
Associate
|
20616199, 20712903, 21779088, 21796137, 21976109, 23349760, 23408508, 23950976, 26800887, 27421018, 31936053, 33668547, 33801339, 34836030, 36839421, 37709841 View all (1 more) |
| Osteogenesis Imperfecta |
Associate
|
36916446 |
| Overweight |
Associate
|
35295960 |
| Spondylocostal dysostosis autosomal recessive |
Associate
|
36916446 |
|