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
Displaying entries 11401 - 11425 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0751494 Convulsive Seizures PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C0751491 Juvenile Sandhoff Disease HEXB 3074 hexosaminidase subunit beta P07686
C0751491 Juvenile Sandhoff Disease OGA 10724 O-GlcNAcase O60502
C0751490 Infantile Sandhoff Disease HEXB 3074 hexosaminidase subunit beta P07686
C0751490 Infantile Sandhoff Disease OGA 10724 O-GlcNAcase O60502
C0751489 Adult Sandhoff Disease HEXB 3074 hexosaminidase subunit beta P07686
C0751489 Adult Sandhoff Disease OGA 10724 O-GlcNAcase O60502
C0751486 Reye-Like Syndrome ACADM 34 acyl-CoA dehydrogenase medium chain P11310
C0751486 Reye-Like Syndrome HADHA 3030 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha P40939
C0751484 Sporadic Retinoblastoma GPC6 10082 glypican 6 Q9Y625
C0751484 Sporadic Retinoblastoma CEACAM5 1048 CEA cell adhesion molecule 5 P06731
C0751483 Familial Retinoblastoma RENBP 5973 renin binding protein P51606
C0751449 Acquired Polyneuropathy PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0751449 Acquired Polyneuropathy SCP2 6342 sterol carrier protein 2 P22307
C0751448 Polyneuropathy, Familial PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0751448 Polyneuropathy, Familial SCP2 6342 sterol carrier protein 2 P22307
C0751435 Hyperphenylalaninaemia OGDH 4967 oxoglutarate dehydrogenase Q02218
C0751435 Hyperphenylalaninaemia GPX3 2878 glutathione peroxidase 3 P22352
C0751434 Classical phenylketonuria CAT 847 catalase P04040
C0751434 Classical phenylketonuria GPX3 2878 glutathione peroxidase 3 P22352
C0751434 Classical phenylketonuria OXCT1 5019 3-oxoacid CoA-transferase 1 P55809
C0751406 Post-Traumatic Osteoporosis GPC6 10082 glypican 6 Q9Y625
C0751406 Post-Traumatic Osteoporosis ENO1 2023 enolase 1 P06733
C0751406 Post-Traumatic Osteoporosis PGLS 25796 6-phosphogluconolactonase O95336
C0751406 Post-Traumatic Osteoporosis GAPDH 2597 glyceraldehyde-3-phosphate dehydrogenase P04406

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Last updated: August 19, 2024