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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 |
|---|---|---|---|---|---|
| C0302592 | Cervix carcinoma | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0302592 | Cervix carcinoma | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0302592 | Cervix carcinoma | TKT | 7086 | transketolase | P29401 |
| C0302592 | Cervix carcinoma | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C0302892 | Congenital porencephaly | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0302894 | Stucco keratosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0311237 | Goniodysgenesis | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0311237 | Goniodysgenesis | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0311245 | Congenital cystic kidney disease | ARF4 | 378 | ADP ribosylation factor 4 | P18085 |
| C0311245 | Congenital cystic kidney disease | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0311249 | Cryptophthalmos | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0311251 | Simple buphthalmos | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0311276 | Severe malnutrition | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0311276 | Severe malnutrition | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0311276 | Severe malnutrition | SELP | 6403 | selectin P | P16109 |
| C0311276 | Severe malnutrition | CD14 | 929 | CD14 molecule | P08571 |
| C0311284 | Lipoid dermatoarthritis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0311335 | Grand Mal Status Epilepticus | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0311335 | Grand Mal Status Epilepticus | CAT | 847 | catalase | P04040 |
| C0311335 | Grand Mal Status Epilepticus | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0311361 | Adenomatous goiter | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0311361 | Adenomatous goiter | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0311361 | Adenomatous goiter | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0311370 | Lupus anticoagulant disorder | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0311370 | Lupus anticoagulant disorder | PC | 5091 | pyruvate carboxylase | P11498 |
