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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 |
|---|---|---|---|---|---|
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PAFAH1B2 | 5049 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | P68402 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PRNP | 5621 | prion protein | F7VJQ1 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SQLE | 6713 | squalene epoxidase | Q14534 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ACYP2 | 98 | acylphosphatase 2 | P14621 |
| C1832648 | Hypoparathyroidism familial isolated | AGA | 175 | aspartylglucosaminidase | P20933 |
| C1832409 | Crisponi syndrome | CNTFR | 1271 | ciliary neurotrophic factor receptor | P26992 |
| C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | MTMR1 | 8776 | myotubularin related protein 1 | Q13613 |
| C1832370 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1832370 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C1832370 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1832321 | INFLAMMATORY BOWEL DISEASE 2 | GALM | 130589 | galactose mutarotase | Q96C23 |
| C1832232 | Peroxisome Biogenesis Disorder, Complementation Group C | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
