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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 |
|---|---|---|---|---|---|
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C2931868 | Catalase deficiency | CAT | 847 | catalase | P04040 |
| C2931868 | Catalase deficiency | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C2931891 | Necrotizing encephalopathy, infantile subacute, of Leigh | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C2931891 | Necrotizing encephalopathy, infantile subacute, of Leigh | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C2931891 | Necrotizing encephalopathy, infantile subacute, of Leigh | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C2931891 | Necrotizing encephalopathy, infantile subacute, of Leigh | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C2932715 | Pseudohypoparathyroidism Type 1B | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C2936332 | Alpha-Sarcoglycanopathies | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C2936664 | Acquired Hypogammaglobulinemia | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C2936664 | Acquired Hypogammaglobulinemia | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C2936664 | Acquired Hypogammaglobulinemia | CD38 | 952 | CD38 molecule | P28907 |
| C2936664 | Acquired Hypogammaglobulinemia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C2936664 | Acquired Hypogammaglobulinemia | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C2936664 | Acquired Hypogammaglobulinemia | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C2936664 | Acquired Hypogammaglobulinemia | FCN2 | 2220 | ficolin 2 | Q15485 |
| C2936694 | Swyer Syndrome | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C2936739 | Hyper-Immunoglobulin E Syndrome, Autosomal Dominant | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C2936781 | Generalized Myotonia of Thomsen | CLC | 1178 | Charcot-Leyden crystal galectin | Q05315 |
| C2936786 | Aqueductal Stenosis | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C2936786 | Aqueductal Stenosis | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C2936786 | Aqueductal Stenosis | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
