|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
9570
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Golgi SNAP receptor complex member 2 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
GOSR2 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
Bos1, EPM6, GS27, MYOS |
|
Chromosome
Chromosome number
|
17 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
17q21.32 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by |
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Muscular dystrophy |
muscular dystrophy |
rs746855352, rs387906881 |
N/A |
| progressive myoclonic epilepsy |
Progressive myoclonic epilepsy |
rs141554661, rs746855352, rs1568177307, rs1380954046, rs776869841, rs387906881 |
N/A |
| Progressive Myoclonic Epilepsy |
progressive myoclonic epilepsy type 6 |
rs863223401, rs141554661, rs387906881 |
N/A |
| Congenital Muscular Dystrophy |
Muscular dystrophy, congenital, with or without seizures |
rs141554661, rs387906881 |
N/A |
|
|
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 |
| Atrial Fibrillation |
Atrial fibrillation |
N/A |
N/A |
GWAS |
| Cleft Lip With Or Without Cleft Palate |
Cleft lip with or without cleft palate |
N/A |
N/A |
GWAS |
| Congenital heart defects |
Congenital heart defects |
N/A |
N/A |
GWAS |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension, Hypertension (confirmatory factor analysis Factor 12), High blood pressure / hypertension |
N/A |
N/A |
GWAS |
| Ischemic Stroke |
Ischemic stroke |
N/A |
N/A |
GWAS |
| Myocardial Infarction |
Myocardial infarction |
N/A |
N/A |
GWAS |
| Pulmonary Fibrosis |
Idiopathic pulmonary fibrosis |
N/A |
N/A |
GWAS |
|
|
|