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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 |
|---|---|---|---|---|---|
| C0039103 | Synovitis | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0039103 | Synovitis | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0039103 | Synovitis | ACLY | 47 | ATP citrate lyase | P53396 |
| C0039103 | Synovitis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0039103 | Synovitis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0039103 | Synovitis | PRNP | 5621 | prion protein | F7VJQ1 |
| C0039103 | Synovitis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0039103 | Synovitis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0334507 | Synovial sarcoma, biphasic | CD38 | 952 | CD38 molecule | P28907 |
| C0410574 | Synovial Hypertrophy | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C1833340 | Synostotic Posterior Plagiocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1833340 | Synostotic Posterior Plagiocephaly | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C2931150 | Synostotic Anterior Plagiocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0039075 | Syndactyly | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0039075 | Syndactyly | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0039075 | Syndactyly | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0039075 | Syndactyly | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0039075 | Syndactyly | ACSL3 | 2181 | acyl-CoA synthetase long chain family member 3 | O95573 |
| C0039075 | Syndactyly | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0039075 | Syndactyly | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0039075 | Syndactyly | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0393699 | Symptomatic Infantile Spasms | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0393699 | Symptomatic Infantile Spasms | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0406775 | Symmetrical dyschromatosis of extremities | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0406775 | Symmetrical dyschromatosis of extremities | ARSH | 347527 | arylsulfatase family member H | Q5FYA8 |
