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 52351 - 52375 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0917796 Optic Atrophy, Hereditary, Leber AKR1B1 231 aldo-keto reductase family 1 member B P15121
C0917796 Optic Atrophy, Hereditary, Leber ACE 1636 angiotensin I converting enzyme P12821
C0917796 Optic Atrophy, Hereditary, Leber GGT1 2678 gamma-glutamyltransferase 1 P19440
C0917796 Optic Atrophy, Hereditary, Leber CAT 847 catalase P04040
C0917796 Optic Atrophy, Hereditary, Leber PGD 5226 phosphogluconate dehydrogenase P52209
C0917798 Cerebral Ischemia ACE 1636 angiotensin I converting enzyme P12821
C0917798 Cerebral Ischemia GCDH 2639 glutaryl-CoA dehydrogenase Q92947
C0917798 Cerebral Ischemia GPX1 2876 glutathione peroxidase 1 P07203
C0917798 Cerebral Ischemia ICAM1 3383 intercellular adhesion molecule 1 P05362
C0917798 Cerebral Ischemia CAT 847 catalase P04040
C0917798 Cerebral Ischemia PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0917798 Cerebral Ischemia PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C0917799 Hypersomnia COMT 1312 catechol-O-methyltransferase P21964
C0917799 Hypersomnia PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0917799 Hypersomnia CHKB 1120 choline kinase beta Q9Y259
C0917799 Hypersomnia CD55 1604 CD55 molecule (Cromer blood group) P08174
C0917799 Hypersomnia LGALS3 3958 galectin 3 P17931
C0917799 Hypersomnia PRNP 5621 prion protein P04156
C0917799 Hypersomnia HACD1 9200 3-hydroxyacyl-CoA dehydratase 1 B0YJ81
C0917799 Hypersomnia PRNP 5621 prion protein F7VJQ1
C0917804 Arteriovenous Malformations, Cerebral PCYT1A 5130 phosphate cytidylyltransferase 1, choline, alpha P49585
C0917805 Transient Cerebral Ischemia GLA 2717 galactosidase alpha P06280
C0917805 Transient Cerebral Ischemia ACE 1636 angiotensin I converting enzyme P12821
C0917805 Transient Cerebral Ischemia FCN1 2219 ficolin 1 O00602
C0917805 Transient Cerebral Ischemia PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329

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Last updated: August 19, 2024