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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 |
|---|---|---|---|---|---|
| C4551977 | Microphthalmos, Autosomal Recessive | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C4551976 | HYPOTRICHOSIS 1 | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C4551974 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C4551968 | Lissencephaly, X-Linked, 1 | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C4551952 | Myopathy, Centronuclear, 1 | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C4551952 | Myopathy, Centronuclear, 1 | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C4551910 | Acute Inflammatory Demyelinating Polyneuropathy | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C4551910 | Acute Inflammatory Demyelinating Polyneuropathy | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C4551905 | Pulmonary Venous Return Anomaly | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C4551905 | Pulmonary Venous Return Anomaly | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C4551903 | Total anomalous pulmonary venous return | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C4551902 | Craniosynostosis, Type 1 | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C4551898 | Cholestasis, progressive familial intrahepatic 1 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C4551898 | Cholestasis, progressive familial intrahepatic 1 | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C4551898 | Cholestasis, progressive familial intrahepatic 1 | OGA | 10724 | O-GlcNAcase | O60502 |
| C4551898 | Cholestasis, progressive familial intrahepatic 1 | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C4551898 | Cholestasis, progressive familial intrahepatic 1 | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C4551895 | Familial Cold Autoinflammatory Syndrome 1 | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C4551893 | Toxemia of pregnancy | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C4551858 | Vesicoureteral Reflux 1 | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C4551858 | Vesicoureteral Reflux 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
