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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 |
|---|---|---|---|---|---|
| C0266483 | Pachygyria | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0266483 | Pachygyria | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1959582 | PTEN Hamartoma Tumor Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1959582 | PTEN Hamartoma Tumor Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1959582 | PTEN Hamartoma Tumor Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1959582 | PTEN Hamartoma Tumor Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1959582 | PTEN Hamartoma Tumor Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3279392 | PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C1864100 | PSEUDOHYPOPARATHYROIDISM, TYPE IB | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C4722327 | PROSTATE CANCER, HEREDITARY, 1 | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1861457 | PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C1861457 | PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C3151140 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2D | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C3151140 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2D | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0220697 | POLYDACTYLY, POSTAXIAL | GPC3 | 2719 | glypican 3 | P51654 |
| C3887964 | POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | GANAB | 23193 | glucosidase II alpha subunit | Q14697 |
| C3887964 | POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | FASN | 2194 | fatty acid synthase | P49327 |
| C3887964 | POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | ACLY | 47 | ATP citrate lyase | P53396 |
| C3887964 | POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
