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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 |
|---|---|---|---|---|---|
| C1321756 | Achalasia | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C0158784 | Accessory skeletal muscle | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0268419 | Acatalasia | CAT | 847 | catalase | P04040 |
| C0268419 | Acatalasia | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C2936847 | Acatalasemia Japanese type | CAT | 847 | catalase | P04040 |
| C0000889 | Acanthosis Nigricans | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0000889 | Acanthosis Nigricans | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0000889 | Acanthosis Nigricans | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0000889 | Acanthosis Nigricans | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0687751 | Acanthocytosis | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C1456418 | Absence of muscle | CS | 1431 | citrate synthase | O75390 |
| C1456418 | Absence of muscle | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0014553 | Absence Epilepsy | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0014553 | Absence Epilepsy | CANX | 821 | calnexin | P27824 |
| C0014553 | Absence Epilepsy | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C0014553 | Absence Epilepsy | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0014553 | Absence Epilepsy | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0014553 | Absence Epilepsy | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0014553 | Absence Epilepsy | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C0278061 | Abnormal mental state | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0278061 | Abnormal mental state | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0278061 | Abnormal mental state | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0432333 | Abnormal dermatoglyphic pattern | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0432333 | Abnormal dermatoglyphic pattern | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0520966 | Abnormal coordination | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
