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 |
---|---|---|---|---|---|
C1850343 | Mosaic variegated aneuploidy syndrome 1 | CNTN3 | 5067 | contactin 3 | Q9P232 |
C1850362 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B | NYX | 60506 | nyctalopin | Q9GZU5 |
C1850442 | CEROID LIPOFUSCINOSIS, NEURONAL, 5 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C1850451 | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
C1850554 | Atelosteogenesis type 2 | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
C1850554 | Atelosteogenesis type 2 | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
C1850554 | Atelosteogenesis type 2 | ANXA5 | 308 | annexin A5 | P08758 |
C1850555 | De La Chapelle Dysplasia | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
C1850597 | Leigh Syndrome Due To Mitochondrial Complex II Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C1850597 | Leigh Syndrome Due To Mitochondrial Complex II Deficiency | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
C1850597 | Leigh Syndrome Due To Mitochondrial Complex II Deficiency | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
C1850597 | Leigh Syndrome Due To Mitochondrial Complex II Deficiency | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
C1850600 | Leigh Syndrome due to Mitochondrial Complex V Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C1850600 | Leigh Syndrome due to Mitochondrial Complex V Deficiency | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
C1850600 | Leigh Syndrome due to Mitochondrial Complex V Deficiency | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
C1850600 | Leigh Syndrome due to Mitochondrial Complex V Deficiency | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
C1850625 | Native American myopathy | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
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Last updated: August 19, 2024