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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 |
|---|---|---|---|---|---|
| C1840061 | SMALL PATELLA SYNDROME | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C1840061 | SMALL PATELLA SYNDROME | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C1839840 | MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C1839840 | MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | DGKH | 160851 | diacylglycerol kinase eta | Q86XP1 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | IMPA2 | 3613 | inositol monophosphatase 2 | O14732 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | INPP1 | 3628 | inositol polyphosphate-1-phosphatase | P49441 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | PIP4K2A | 5305 | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | P48426 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C1839780 | FRAGILE X TREMOR/ATAXIA SYNDROME | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C1839780 | FRAGILE X TREMOR/ATAXIA SYNDROME | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
