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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 |
|---|---|---|---|---|---|
| C0549473 | Thyroid carcinoma | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0549473 | Thyroid carcinoma | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C0549567 | Pigmentation Disorders | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0549567 | Pigmentation Disorders | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0549622 | Sexual Dysfunction | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0549622 | Sexual Dysfunction | MDGA2 | 161357 | MAM domain containing glycosylphosphatidylinositol anchor 2 | Q7Z553 |
| C0549622 | Sexual Dysfunction | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0549622 | Sexual Dysfunction | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0549622 | Sexual Dysfunction | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0549622 | Sexual Dysfunction | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0553580 | Ewings sarcoma | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0553580 | Ewings sarcoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0553580 | Ewings sarcoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0553580 | Ewings sarcoma | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0553580 | Ewings sarcoma | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0553580 | Ewings sarcoma | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0553580 | Ewings sarcoma | CD38 | 952 | CD38 molecule | P28907 |
| C0553580 | Ewings sarcoma | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0553580 | Ewings sarcoma | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0553580 | Ewings sarcoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0553580 | Ewings sarcoma | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0553580 | Ewings sarcoma | CD248 | 57124 | CD248 molecule | Q9HCU0 |
| C0553580 | Ewings sarcoma | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C0553580 | Ewings sarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0553580 | Ewings sarcoma | CYP2C8 | 1558 | cytochrome P450 family 2 subfamily C member 8 | P10632 |
