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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 |
|---|---|---|---|---|---|
| C0013336 | Dwarfism | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0013336 | Dwarfism | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0013336 | Dwarfism | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0013336 | Dwarfism | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0013336 | Dwarfism | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0013336 | Dwarfism | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0013336 | Dwarfism | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0013336 | Dwarfism | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0013336 | Dwarfism | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0013336 | Dwarfism | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0013336 | Dwarfism | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C2751630 | Dursun Syndrome | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0266174 | Duodenal atresia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0266174 | Duodenal atresia | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0013295 | Duodenal Ulcer | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0013295 | Duodenal Ulcer | FUCA2 | 2519 | alpha-L-fucosidase 2 | Q9BTY2 |
| C0013295 | Duodenal Ulcer | ACO1 | 48 | aconitase 1 | P21399 |
| C0013295 | Duodenal Ulcer | SELE | 6401 | selectin E | P16581 |
| C0013295 | Duodenal Ulcer | SELL | 6402 | selectin L | P14151 |
| C0013295 | Duodenal Ulcer | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0013295 | Duodenal Ulcer | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0013295 | Duodenal Ulcer | LY6K | 54742 | lymphocyte antigen 6 family member K | Q17RY6 |
| C0013295 | Duodenal Ulcer | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1176475 | Ductal Carcinoma | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C1176475 | Ductal Carcinoma | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
