|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23509
|
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Protein O-fucosyltransferase 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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POFUT1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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DDD2, FUT12, O-FUT, O-Fuc-T, O-FucT-1, OFUCT1 |
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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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20q11.21 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted pr |
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Dowling-Degos Disease |
dowling-degos disease 2 |
rs398123038, rs886041033, rs1569152303 |
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 |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Abortion Habitual |
Inhibit
|
25165882 |
| Adenoma |
Associate
|
31411736 |
| Colorectal Neoplasms |
Associate
|
23341073, 31638246, 34577783 |
| Dermatitis |
Associate
|
31566882 |
| Developmental Disabilities |
Associate
|
29452367 |
| Dowling Degos Disease |
Associate
|
24387993, 25157627, 28334865, 29452367, 31566882 |
| Embryo Loss |
Associate
|
29452367 |
| Failure to Thrive |
Associate
|
29452367 |
| Glioma |
Associate
|
17986135 |
| Heart Aneurysm |
Associate
|
29452367 |
| Heart Defects Congenital |
Associate
|
29452367 |
| Hyperpigmentation |
Associate
|
29452367, 31566882 |
| Leukemia |
Associate
|
28334865 |
| Liver Diseases |
Associate
|
29452367 |
| Lung Neoplasms |
Associate
|
30101373 |
| Lymphedema |
Associate
|
29452367 |
| Microcephaly |
Associate
|
29452367 |
| Neoplasms |
Associate
|
23341073, 28334865, 31411736, 31638246, 34577783, 36265581 |
| Ovarian Neoplasms |
Inhibit
|
39972314 |
| Skin Diseases |
Associate
|
31566882 |
| Skin Diseases Eczematous |
Associate
|
31566882 |
| Skull Base Neoplasms |
Associate
|
31566882 |
|