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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 |
|---|---|---|---|---|---|
| C2931019 | Split hand foot deformity 1 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2931019 | Split hand foot deformity 1 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2931019 | Split hand foot deformity 1 | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C2931019 | Split hand foot deformity 1 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2931019 | Split hand foot deformity 1 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2931022 | Amyloidosis, Cerebral, with Spongiform Encephalopathy | PRNP | 5621 | prion protein | P04156 |
| C2931022 | Amyloidosis, Cerebral, with Spongiform Encephalopathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C2931038 | Pancreatic carcinoma, familial | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C2931038 | Pancreatic carcinoma, familial | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C2931067 | Cholestasis, progressive familial intrahepatic 4 | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C2931132 | Crigler Najjar syndrome, type 2 | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C2931132 | Crigler Najjar syndrome, type 2 | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C2931132 | Crigler Najjar syndrome, type 2 | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C2931132 | Crigler Najjar syndrome, type 2 | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C2931132 | Crigler Najjar syndrome, type 2 | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C2931132 | Crigler Najjar syndrome, type 2 | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C2931132 | Crigler Najjar syndrome, type 2 | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C2931132 | Crigler Najjar syndrome, type 2 | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C2931132 | Crigler Najjar syndrome, type 2 | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C2931150 | Synostotic Anterior Plagiocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C2931187 | Nephropathic cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C2931187 | Nephropathic cystinosis | VNN1 | 8876 | vanin 1 | O95497 |
| C2931187 | Nephropathic cystinosis | VNN2 | 8875 | vanin 2 | O95498 |
| C2931187 | Nephropathic cystinosis | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C2931189 | Neural crest tumor | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
