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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 |
|---|---|---|---|---|---|
| C0524702 | Pulmonary Thromboembolisms | SELP | 6403 | selectin P | P16109 |
| C0524702 | Pulmonary Thromboembolisms | CAT | 847 | catalase | P04040 |
| 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 |
| 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 |
| C0020542 | Pulmonary Hypertension | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0020542 | Pulmonary Hypertension | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
| C0020542 | Pulmonary Hypertension | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0020542 | Pulmonary Hypertension | HK1 | 3098 | hexokinase 1 | P19367 |
| C0020542 | Pulmonary Hypertension | HYAL1 | 3373 | hyaluronidase 1 | Q12794 |
| C0020542 | Pulmonary Hypertension | HYAL2 | 8692 | hyaluronidase 2 | Q12891 |
| C0020542 | Pulmonary Hypertension | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0020542 | Pulmonary Hypertension | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020542 | Pulmonary Hypertension | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
