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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 |
|---|---|---|---|---|---|
| C3164344 | Adult onset autosomal dominant leukodystrophy | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C3178805 | Heterotaxy Syndrome | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C3178805 | Heterotaxy Syndrome | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C3178806 | Right Atrial Isomerism | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C3179194 | GALNS Deficiency | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C3179194 | GALNS Deficiency | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C3179194 | GALNS Deficiency | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C3179349 | Gastrointestinal Stromal Sarcoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3179349 | Gastrointestinal Stromal Sarcoma | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C3179349 | Gastrointestinal Stromal Sarcoma | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C3179349 | Gastrointestinal Stromal Sarcoma | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C3179349 | Gastrointestinal Stromal Sarcoma | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C3179349 | Gastrointestinal Stromal Sarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3179349 | Gastrointestinal Stromal Sarcoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3179349 | Gastrointestinal Stromal Sarcoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3179349 | Gastrointestinal Stromal Sarcoma | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C3179455 | Niemann-Pick Disease, Type C1 | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C3179455 | Niemann-Pick Disease, Type C1 | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C3179455 | Niemann-Pick Disease, Type C1 | CD22 | 933 | CD22 molecule | P20273 |
| C3179455 | Niemann-Pick Disease, Type C1 | GPC1 | 2817 | glypican 1 | P35052 |
| C3203102 | Idiopathic pulmonary arterial hypertension | CHST13 | 166012 | carbohydrate sulfotransferase 13 | Q8NET6 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3203102 | Idiopathic pulmonary arterial hypertension | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C3203102 | Idiopathic pulmonary arterial hypertension | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
