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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 |
|---|---|---|---|---|---|
| C2930619 | Sex Differentiation Disorders | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C2930619 | Sex Differentiation Disorders | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C0036902 | Sexual Arousal Disorder | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| 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 |
| C0036920 | Sezary Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0036920 | Sezary Syndrome | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C0036920 | Sezary Syndrome | ANXA5 | 308 | annexin A5 | P08758 |
| C0036920 | Sezary Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0036920 | Sezary Syndrome | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0036920 | Sezary Syndrome | SELL | 6402 | selectin L | P14151 |
| C0036920 | Sezary Syndrome | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0036920 | Sezary Syndrome | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0036920 | Sezary Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0036920 | Sezary Syndrome | SDC4 | 6385 | syndecan 4 | P31431 |
| C0036920 | Sezary Syndrome | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0036920 | Sezary Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0036920 | Sezary Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0036920 | Sezary Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0036920 | Sezary Syndrome | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0036939 | Shared Paranoid Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
