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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 |
|---|---|---|---|---|---|
| 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 |
| C0220697 | POLYDACTYLY, POSTAXIAL | GPC3 | 2719 | glypican 3 | P51654 |
| 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 |
| C1861457 | PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C1861457 | PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C4722327 | PROSTATE CANCER, HEREDITARY, 1 | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1864100 | PSEUDOHYPOPARATHYROIDISM, TYPE IB | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C3279392 | PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| 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 |
| C0266483 | Pachygyria | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0266483 | Pachygyria | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0266483 | Pachygyria | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0266483 | Pachygyria | FKTN | 2218 | fukutin | O75072 |
| C0266483 | Pachygyria | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0266483 | Pachygyria | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0266483 | Pachygyria | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0266483 | Pachygyria | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0266483 | Pachygyria | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
