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 |
---|---|---|---|---|---|
C0020676 | Hypothyroidism | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
C0036439 | Scoliosis, unspecified | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
C0014527 | Epidermolysis Bullosa | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
C0017636 | Glioblastoma | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
C0006826 | Malignant Neoplasms | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
C0268524 | gamma-Glutamyltransferase deficiency | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
C0079298 | Epidermolysis Bullosa Simplex | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
C2239176 | Liver carcinoma | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
C0600139 | Prostate carcinoma | SIGLEC12 | 89858 | sialic acid binding Ig like lectin 12 (gene/pseudogene) | Q96PQ1 |
C0028754 | Obesity | SIGLEC12 | 89858 | sialic acid binding Ig like lectin 12 (gene/pseudogene) | Q96PQ1 |
C0024141 | Lupus Erythematosus, Systemic | SIGLEC12 | 89858 | sialic acid binding Ig like lectin 12 (gene/pseudogene) | Q96PQ1 |
C0007097 | Carcinoma | SIGLEC12 | 89858 | sialic acid binding Ig like lectin 12 (gene/pseudogene) | Q96PQ1 |
C0015674 | Chronic Fatigue Syndrome | SIGLEC12 | 89858 | sialic acid binding Ig like lectin 12 (gene/pseudogene) | Q96PQ1 |
C0025517 | Metabolic Diseases | SIGLEC12 | 89858 | sialic acid binding Ig like lectin 12 (gene/pseudogene) | Q96PQ1 |
C0010674 | Cystic Fibrosis | PLCZ1 | 89869 | phospholipase C zeta 1 | Q86YW0 |
C4310666 | SPERMATOGENIC FAILURE 17 | PLCZ1 | 89869 | phospholipase C zeta 1 | Q86YW0 |
C0919267 | ovarian neoplasm | PLCZ1 | 89869 | phospholipase C zeta 1 | Q86YW0 |
C0021359 | Infertility | PLCZ1 | 89869 | phospholipase C zeta 1 | Q86YW0 |
C0342751 | Generalized glycogen storage disease of infants | STBD1 | 8987 | starch binding domain 1 | O95210 |
C0017921 | Glycogen storage disease type II | STBD1 | 8987 | starch binding domain 1 | O95210 |
C0030567 | Parkinson Disease | STBD1 | 8987 | starch binding domain 1 | O95210 |
C0023467 | Leukemia, Myelocytic, Acute | GLB1L2 | 89944 | galactosidase beta 1 like 2 | Q8IW92 |
C0152013 | Adenocarcinoma of lung (disorder) | HS6ST2 | 90161 | heparan sulfate 6-O-sulfotransferase 2 | Q96MM7 |
C0024623 | Malignant neoplasm of stomach | HS6ST2 | 90161 | heparan sulfate 6-O-sulfotransferase 2 | Q96MM7 |
C3714756 | Intellectual Disability | HS6ST2 | 90161 | heparan sulfate 6-O-sulfotransferase 2 | Q96MM7 |
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Last updated: August 19, 2024