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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 |
|---|---|---|---|---|---|
| C0432284 | Infantile myofibromatosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0432284 | Infantile myofibromatosis | ACAN | 176 | aggrecan | P16112 |
| C0432306 | Ichthyosis Bullosa of Siemens | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0432306 | Ichthyosis Bullosa of Siemens | LCT | 3938 | lactase | P09848 |
| C0432333 | Abnormal dermatoglyphic pattern | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0432333 | Abnormal dermatoglyphic pattern | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0442874 | Neuropathy | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0442874 | Neuropathy | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0442874 | Neuropathy | ENO2 | 2026 | enolase 2 | P09104 |
| C0442874 | Neuropathy | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0442874 | Neuropathy | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0442874 | Neuropathy | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0442874 | Neuropathy | LYZ | 4069 | lysozyme | P61626 |
| C0442874 | Neuropathy | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0442874 | Neuropathy | CANX | 821 | calnexin | P27824 |
| C0442874 | Neuropathy | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0442874 | Neuropathy | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0442874 | Neuropathy | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0442874 | Neuropathy | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0442874 | Neuropathy | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0442874 | Neuropathy | NCAN | 1463 | neurocan | O14594 |
| C0442874 | Neuropathy | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0442874 | Neuropathy | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C0442874 | Neuropathy | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0442874 | Neuropathy | GFRA2 | 2675 | GDNF family receptor alpha 2 | O00451 |
