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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 |
|---|---|---|---|---|---|
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | GPC5 | 2262 | glypican 5 | P78333 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2751310 | Hyperuricemic Nephropathy, Familial Juvenile 2 | UMOD | 7369 | uromodulin | P07911 |
| C2751306 | Polycystic kidney disease, type 2 | GANAB | 23193 | glucosidase II alpha subunit | Q14697 |
| C2751306 | Polycystic kidney disease, type 2 | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C2751306 | Polycystic kidney disease, type 2 | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | FKTN | 2218 | fukutin | O75072 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C2750850 | GLIOMA SUSCEPTIBILITY 1 | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C2750787 | Weill-Marchesani-Like Syndrome | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C2750786 | Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C2750748 | Chromosome 17p13.3 Duplication Syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C2750737 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C2750737 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C2750737 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | PRNP | 5621 | prion protein | P04156 |
| C2750737 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C2750737 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | PRNP | 5621 | prion protein | F7VJQ1 |
| C2750441 | LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
