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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID ▲ |
|---|---|---|---|---|---|
| C0011581 | Depressive disorder | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0013421 | Dystonia | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0684276 | Hypsarrhythmia | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0021364 | Male infertility | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0036337 | Schizoaffective Disorder | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0027651 | Neoplasms | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0376545 | Hematologic Neoplasms | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0036341 | Schizophrenia | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0025322 | Premature Menopause | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0027051 | Myocardial Infarction | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C3463824 | MYELODYSPLASTIC SYNDROME | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0029408 | Degenerative polyarthritis | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0032463 | Polycythemia Vera | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0085215 | Ovarian Failure, Premature | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0004936 | Mental disorders | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0236733 | Amphetamine-Related Disorders | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0002395 | Alzheimer's Disease | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0742343 | Acute Chest Syndrome | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0018802 | Congestive heart failure | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0025958 | Microcephaly | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3150418 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0266544 | Microcornea | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
