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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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11160
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Gene name
Gene Name - the full gene name approved by the HGNC.
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ER lipid raft associated 2 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ERLIN2 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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C8orf2, Erlin-2, NET32, SPFH2, SPG18, SPG18A, SPG18B |
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Chromosome
Chromosome number
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8 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8p11.23 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by me |
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|
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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 |
| Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome |
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome |
N/A |
N/A |
GenCC |
| Lateral Sclerosis |
juvenile primary lateral sclerosis |
N/A |
N/A |
GenCC |
| Oligodendroglioma |
Oligodendroglioma |
N/A |
N/A |
GWAS |
|
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Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
33424830 |
| Astrocytoma |
Associate
|
32883232 |
| Breast Neoplasms |
Associate
|
22681620, 37831636 |
| Breast Neoplasms |
Stimulate
|
22690709 |
| Carcinogenesis |
Associate
|
22681620 |
| Carcinoma Hepatocellular |
Associate
|
22690709 |
| Carcinoma Squamous Cell |
Associate
|
37575065 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
22681620 |
| Liver Neoplasms |
Associate
|
34946825 |
| Lymphatic Metastasis |
Stimulate
|
33424830 |
| Neoplasm Metastasis |
Associate
|
37831636 |
| Neoplasms |
Associate
|
22690709, 33424830 |
| Neurodegenerative Diseases |
Associate
|
31874412 |
| Spastic Paraplegia 18 Autosomal Recessive |
Associate
|
32094424 |
| Spastic Paraplegia Hereditary |
Associate
|
21796390, 32094424, 40225166 |
|