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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 |
|---|---|---|---|---|---|
| C1306557 | Chronic venous insufficiency | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1306557 | Chronic venous insufficiency | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C1306557 | Chronic venous insufficiency | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1306557 | Chronic venous insufficiency | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0795956 | Chylomicron retention disease | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0008780 | Ciliary Motility Disorders | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0813142 | Circadian Rhythm Disorders | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0267809 | Cirrhosis, Cryptogenic | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0267809 | Cirrhosis, Cryptogenic | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0175683 | Citrullinemia | ARSD | 414 | arylsulfatase D | P51689 |
| C4721769 | Citrullinemia Type 1 | ARSD | 414 | arylsulfatase D | P51689 |
| C0268568 | Classic Maple Syrup Urine Disease | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0268568 | Classic Maple Syrup Urine Disease | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0268568 | Classic Maple Syrup Urine Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0431375 | Classical Lissencephaly | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0431375 | Classical Lissencephaly | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0268151 | Classical galactosemia | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0268151 | Classical galactosemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0268151 | Classical galactosemia | LGALS1 | 3956 | galectin 1 | P09382 |
| C0268151 | Classical galactosemia | GALM | 130589 | galactose mutarotase | Q96C23 |
| C0268151 | Classical galactosemia | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0268151 | Classical galactosemia | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0268151 | Classical galactosemia | GALE | 2582 | UDP-galactose-4-epimerase | Q14376 |
| C0268151 | Classical galactosemia | UGP2 | 7360 | UDP-glucose pyrophosphorylase 2 | Q16851 |
| C0268151 | Classical galactosemia | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
