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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 |
|---|---|---|---|---|---|
| C1258085 | Barrett Epithelium | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
| C1258085 | Barrett Epithelium | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C1258085 | Barrett Epithelium | CDH13 | 1012 | cadherin 13 | P55290 |
| C1258085 | Barrett Epithelium | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0752166 | Bardet-Biedl Syndrome | PIGX | 54965 | phosphatidylinositol glycan anchor biosynthesis class X | Q8TBF5 |
| C0752166 | Bardet-Biedl Syndrome | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C1319466 | Barber Say syndrome | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C1840333 | Barakat syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1840333 | Barakat syndrome | STS | 412 | steroid sulfatase | P08842 |
| C1840333 | Barakat syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0004698 | Balkan Nephropathy | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0004698 | Balkan Nephropathy | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0004698 | Balkan Nephropathy | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0004698 | Balkan Nephropathy | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0004698 | Balkan Nephropathy | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0004681 | Bagassosis | HS3ST6 | 64711 | heparan sulfate-glucosamine 3-sulfotransferase 6 | Q96QI5 |
| C0004681 | Bagassosis | OVGP1 | 5016 | oviductal glycoprotein 1 | Q12889 |
| C0004681 | Bagassosis | ACAN | 176 | aggrecan | P16112 |
| C0004659 | Bacteriuria | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
