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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 |
|---|---|---|---|---|---|
| C0020542 | Pulmonary Hypertension | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0020542 | Pulmonary Hypertension | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C1334455 | Pulmonary Sclerosing Hemangioma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1334455 | Pulmonary Sclerosing Hemangioma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1334455 | Pulmonary Sclerosing Hemangioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1956257 | Pulmonary Stenosis | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1956257 | Pulmonary Stenosis | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C1956257 | Pulmonary Stenosis | FKTN | 2218 | fukutin | O75072 |
| C1956257 | Pulmonary Stenosis | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C1956257 | Pulmonary Stenosis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1956257 | Pulmonary Stenosis | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1956257 | Pulmonary Stenosis | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C1956257 | Pulmonary Stenosis | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1956257 | Pulmonary Stenosis | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C1956257 | Pulmonary Stenosis | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C1956257 | Pulmonary Stenosis | ARSD | 414 | arylsulfatase D | P51689 |
| C0524702 | Pulmonary Thromboembolisms | QTRT1 | 81890 | queuine tRNA-ribosyltransferase catalytic subunit 1 | Q9BXR0 |
| C0524702 | Pulmonary Thromboembolisms | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0524702 | Pulmonary Thromboembolisms | SELP | 6403 | selectin P | P16109 |
| C0524702 | Pulmonary Thromboembolisms | CAT | 847 | catalase | P04040 |
| C0034088 | Pulmonary Valve Insufficiency | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0034088 | Pulmonary Valve Insufficiency | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0034088 | Pulmonary Valve Insufficiency | SFTPC | 6440 | surfactant protein C | P11686 |
| C0034089 | Pulmonary Valve Stenosis | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0034089 | Pulmonary Valve Stenosis | ARSD | 414 | arylsulfatase D | P51689 |
