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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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57222
|
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Endoplasmic reticulum-golgi intermediate compartment 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ERGIC1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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AMC2, AMCN, ERGIC-32, ERGIC32, NET24 |
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Chromosome
Chromosome number
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5 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5q35.1 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008] |
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Arthrogryposis multiplex congenita |
Arthrogryposis multiplex congenita 2, neurogenic type |
rs1554112524 |
N/A |
| Congenital finger flexion contractures |
Flexion contracture |
rs1581595267 |
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.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Colorectal cancer |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Ulcerative colitis |
Ulcerative colitis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Amyotrophic Lateral Sclerosis |
Associate
|
29630712 |
| Arthrogryposis |
Associate
|
31230720, 34037256 |
| Prostatic Neoplasms |
Associate
|
22761906 |
| Stomach Neoplasms |
Associate
|
28970727 |
|