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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 | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | Q6UVK1 |
| C0024623 | Malignant neoplasm of stomach | TMED6 | 146456 | transmembrane p24 trafficking protein 6 | Q8WW62 |
| C0206657 | Alveolar Soft Part Sarcoma | TMED6 | 146456 | transmembrane p24 trafficking protein 6 | Q8WW62 |
| C0242379 | Malignant neoplasm of lung | TMED6 | 146456 | transmembrane p24 trafficking protein 6 | Q8WW62 |
| C0279544 | Adult Alveolar Soft Part Sarcoma | TMED6 | 146456 | transmembrane p24 trafficking protein 6 | Q8WW62 |
| C0279985 | Childhood Alveolar Soft Part Sarcoma | TMED6 | 146456 | transmembrane p24 trafficking protein 6 | Q8WW62 |
| C2239176 | Liver carcinoma | TMED6 | 146456 | transmembrane p24 trafficking protein 6 | Q8WW62 |
| C0009402 | Colorectal Carcinoma | TMED6 | 146456 | transmembrane p24 trafficking protein 6 | Q8WW62 |
| C0700095 | Central neuroblastoma | MGAT5B | 146664 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B | Q3V5L5 |
| C1136382 | Sclerocystic Ovaries | MGAT5B | 146664 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B | Q3V5L5 |
| C0027819 | Neuroblastoma | MGAT5B | 146664 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B | Q3V5L5 |
| C0006826 | Malignant Neoplasms | MGAT5B | 146664 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B | Q3V5L5 |
| C0153633 | Malignant neoplasm of brain | MGAT5B | 146664 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B | Q3V5L5 |
| C2239176 | Liver carcinoma | MGAT5B | 146664 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B | Q3V5L5 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | MGAT5B | 146664 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B | Q3V5L5 |
| C0033860 | Psoriasis | B3GNTL1 | 146712 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 | Q67FW5 |
| C0007102 | Malignant tumor of colon | B3GNTL1 | 146712 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 | Q67FW5 |
| C0684249 | Carcinoma of lung | B3GNTL1 | 146712 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 | Q67FW5 |
| C0699790 | Colon Carcinoma | B3GNTL1 | 146712 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 | Q67FW5 |
| C2931822 | Nasopharyngeal carcinoma | RTN4RL1 | 146760 | reticulon 4 receptor like 1 | Q86UN2 |
| C0152021 | Congenital heart disease | RTN4RL1 | 146760 | reticulon 4 receptor like 1 | Q86UN2 |
| C0023467 | Leukemia, Myelocytic, Acute | RTN4RL1 | 146760 | reticulon 4 receptor like 1 | Q86UN2 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | RTN4RL1 | 146760 | reticulon 4 receptor like 1 | Q86UN2 |
| C2711227 | Steatohepatitis | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
| C4225190 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
