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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9885
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Oxysterol binding protein like 2 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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OSBPL2 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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DFNA67, DNFA67, ORP-2, ORP2 |
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Chromosome
Chromosome number
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20 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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20q13.33 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although |
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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 |
| Deafness |
Autosomal dominant nonsyndromic hearing loss 67 |
rs786205880, rs786205881 |
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 |
| Bipolar Disorder |
Bipolar disorder |
N/A |
N/A |
GWAS |
| Restless Legs Syndrome |
Restless legs syndrome |
N/A |
N/A |
GWAS |
|
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Associations from Text Mining
Disease associations identified through Pubtator
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| Disease Name |
Relationship Type |
References |
| Carcinoma Hepatocellular |
Associate
|
29947926, 36918840 |
| Colorectal Neoplasms |
Associate
|
33258187 |
| Deafness |
Associate
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30391516, 30894143, 35682719 |
| Depressive Disorder |
Associate
|
30391516 |
| Distal Myopathies |
Associate
|
30894143 |
| Glucosephosphate Dehydrogenase Deficiency |
Associate
|
35682719 |
| Hearing Loss |
Associate
|
35682719 |
| Inflammation |
Associate
|
33854310 |
| Neoplasms |
Stimulate
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36918840 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
33854310 |
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