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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 |
|---|---|---|---|---|---|
| C0034885 | Rectal Neoplasms | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C0034885 | Rectal Neoplasms | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0034885 | Rectal Neoplasms | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0034885 | Rectal Neoplasms | HMGCS2 | 3158 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | P54868 |
| C0034885 | Rectal Neoplasms | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0034885 | Rectal Neoplasms | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0034888 | Rectal Prolapse | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0750977 | Recurrent Brain Neoplasm | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0750977 | Recurrent Brain Neoplasm | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C2937365 | Recurrent aphthous ulcer | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0155119 | Recurrent erosion of cornea | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C0155119 | Recurrent erosion of cornea | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C3714772 | Recurrent fevers | GALC | 2581 | galactosylceramidase | P54803 |
| C3714772 | Recurrent fevers | LPIN2 | 9663 | lipin 2 | Q92539 |
| C3714772 | Recurrent fevers | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C3714772 | Recurrent fevers | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C3887641 | Recurrent hepatitis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0154409 | Recurrent major depressive episodes | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0748607 | Recurrent seizure | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0748607 | Recurrent seizure | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0748607 | Recurrent seizure | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0748607 | Recurrent seizure | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0748607 | Recurrent seizure | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0748607 | Recurrent seizure | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0748607 | Recurrent seizure | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
