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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 |
|---|---|---|---|---|---|
| C0029408 | Degenerative polyarthritis | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C0020071 | Hereditary Sensory Autonomic Neuropathy, Type 1 | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C3150896 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0033860 | Psoriasis | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0027651 | Neoplasms | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0206664 | Teratocarcinoma | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0027051 | Myocardial Infarction | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0699739 | Sensory Neuropathy, Hereditary | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0011991 | Diarrhea | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0007959 | Charcot-Marie-Tooth Disease | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C4721453 | Peripheral Nervous System Diseases | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C2239176 | Liver carcinoma | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0003028 | Anhidrosis | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0029443 | Osteomyelitis | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0023434 | Chronic Lymphocytic Leukemia | CD38 | 952 | CD38 molecule | P28907 |
| C0039101 | synovial sarcoma | CD38 | 952 | CD38 molecule | P28907 |
| C0013080 | Down Syndrome | CD38 | 952 | CD38 molecule | P28907 |
| C0023418 | leukemia | CD38 | 952 | CD38 molecule | P28907 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | CD38 | 952 | CD38 molecule | P28907 |
| C0026764 | Multiple Myeloma | CD38 | 952 | CD38 molecule | P28907 |
| C1868683 | B-CELL MALIGNANCY, LOW-GRADE | CD38 | 952 | CD38 molecule | P28907 |
| C0004352 | Autistic Disorder | CD38 | 952 | CD38 molecule | P28907 |
| C0026769 | Multiple Sclerosis | CD38 | 952 | CD38 molecule | P28907 |
| C3275445 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | CD38 | 952 | CD38 molecule | P28907 |
| C0009447 | Common Variable Immunodeficiency | CD38 | 952 | CD38 molecule | P28907 |
