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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 |
|---|---|---|---|---|---|
| C0520947 | Clumsiness - motor delay | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0016202 | Flatfoot | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0005745 | Blepharoptosis | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0678222 | Breast Carcinoma | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0028738 | Nystagmus | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C1621958 | Glioblastoma Multiforme | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0278878 | Adult Glioblastoma | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C3714756 | Intellectual Disability | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0036439 | Scoliosis, unspecified | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0036572 | Seizures | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0017636 | Glioblastoma | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0086543 | Cataract | CHST1 | 8534 | carbohydrate sulfotransferase 1 | O43916 |
| C0029422 | Osteochondrodysplasias | CHST1 | 8534 | carbohydrate sulfotransferase 1 | O43916 |
| C0009402 | Colorectal Carcinoma | LGALS12 | 85329 | galectin 12 | Q96DT0 |
| C0023487 | Acute Promyelocytic Leukemia | LGALS12 | 85329 | galectin 12 | Q96DT0 |
| C0699790 | Colon Carcinoma | LGALS12 | 85329 | galectin 12 | Q96DT0 |
| C0007102 | Malignant tumor of colon | LGALS12 | 85329 | galectin 12 | Q96DT0 |
| C0948008 | Ischemic stroke | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C0038454 | Cerebrovascular accident | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C0020538 | Hypertensive disease | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C0206686 | Adrenocortical carcinoma | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C2239176 | Liver carcinoma | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C0013274 | Patent ductus arteriosus | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
