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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 |
|---|---|---|---|---|---|
| C0346153 | Breast Cancer, Familial | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0346153 | Breast Cancer, Familial | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0346153 | Breast Cancer, Familial | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0346153 | Breast Cancer, Familial | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0346153 | Breast Cancer, Familial | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0346153 | Breast Cancer, Familial | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0346153 | Breast Cancer, Familial | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0346153 | Breast Cancer, Familial | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C0346153 | Breast Cancer, Familial | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0346153 | Breast Cancer, Familial | HSD17B2 | 3294 | hydroxysteroid 17-beta dehydrogenase 2 | P37059 |
| C0346153 | Breast Cancer, Familial | HSD17B1 | 3292 | hydroxysteroid 17-beta dehydrogenase 1 | P14061 |
| C0346153 | Breast Cancer, Familial | LSS | 4047 | lanosterol synthase | P48449 |
| C0346153 | Breast Cancer, Familial | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0346153 | Breast Cancer, Familial | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0346163 | Endometrioid carcinoma ovary | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0346163 | Endometrioid carcinoma ovary | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0346163 | Endometrioid carcinoma ovary | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0346163 | Endometrioid carcinoma ovary | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0346172 | Mucinous cystadenoma of ovary | FH | 2271 | fumarate hydratase | P07954 |
| C0346183 | Ovarian Embryonal Carcinoma | GPC3 | 2719 | glypican 3 | P51654 |
| C0346185 | Dysgerminoma of ovary | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0346185 | Dysgerminoma of ovary | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0346191 | Carcinoma in situ of endometrium | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0346249 | Cystadenocarcinoma of kidney | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0346255 | Oncocytoma, renal | SDC1 | 6382 | syndecan 1 | P18827 |
