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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4166
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Carbohydrate sulfotransferase 6 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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CHST6 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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C-GlcNAc6ST, GST4-beta, MCDC1, glcNAc6ST-5, gn6st-5, hCGn6ST |
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Chromosome
Chromosome number
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16 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16q23.1 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [prov |
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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 |
| Macular Corneal Dystrophy |
macular corneal dystrophy, Macular corneal dystrophy, type II |
rs756036451, rs753928736, rs755563003, rs28937877, rs28937878, rs28937879, rs121917822, rs72547544, rs121917826, rs886052321 |
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 |
| Diabetes |
Type 2 diabetes, Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy) |
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 |
| Amyloidosis |
Associate
|
21242781 |
| Carcinoma Renal Cell |
Associate
|
33836688, 40149981 |
| Corneal Diseases |
Associate
|
14735064, 16568029 |
| Corneal Dystrophies Hereditary |
Associate
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11139648, 14735064, 16568029, 19204788, 19223992, 19365571, 21242781, 24311932, 25081284, 26604660, 27439461, 27829782, 31669782, 34301210, 34645431, 35472829, 36902444, 39959172 View all (3 more) |
| Corneal dystrophy Avellino type |
Associate
|
21887843 |
| Dupuytren Contracture |
Associate
|
35627129 |
| Hyaline Fibromatosis Syndrome |
Associate
|
21242781 |
| Macular Corneal Dystrophy Type II |
Associate
|
17093400, 21242781 |
| Macular dystrophy corneal type 1 |
Associate
|
11139648, 17093400, 21242781, 21887843, 27439461 |
| Pancreatic Neoplasms |
Associate
|
29074453 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
35308900 |
| Thinness |
Associate
|
25081284 |
|