Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23509
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Protein O-fucosyltransferase 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
POFUT1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
DDD2, FUT12, O-FUT, O-Fuc-T, O-FucT-1, OFUCT1 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
DDD2 |
Chromosome
Chromosome number
|
20 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
20q11.21 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Dowling-degos disease |
dowling-degos disease, DOWLING-DEGOS DISEASE 2, Dowling-Degos disease 1, Dowling-Degos disease |
rs398123038, rs886041033, rs587777293, rs587777294, rs587777295, rs587777296, rs1569152303 |
23684010 |
Reticulate acropigmentation of kitamura |
Reticulate acropigmentation of Kitamura |
rs483352913, rs483352914, rs483352915, rs483352916 |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
|
28166215 |
ClinVar |
Dowling-Degos Disease |
Dowling-Degos disease |
|
|
GenCC |
Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
|
|
GenCC |
Inflammatory Bowel Disease |
Inflammatory Bowel Disease |
|
|
GWAS |
Crohn Disease |
Crohn Disease |
|
|
GWAS |
Insomnia |
Insomnia |
|
|
GWAS |
|
Associations from Text Mining |
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 |
|