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 53901 - 53925 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0008412 Choline Deficiency MLYCD 23417 malonyl-CoA decarboxylase O95822
C0008412 Choline Deficiency PEMT 10400 phosphatidylethanolamine N-methyltransferase Q9UBM1
C0008384 Cholesterol Ester Storage Disease LIPA 3988 lipase A, lysosomal acid type P38571
C0008373 Cholesteatoma CLEC6A 93978 C-type lectin domain containing 6A Q6EIG7
C0008373 Cholesteatoma CLEC10A 10462 C-type lectin domain containing 10A Q8IUN9
C0008373 Cholesteatoma MGLL 11343 monoglyceride lipase Q99685
C0008373 Cholesteatoma CLEC5A 23601 C-type lectin domain containing 5A Q9NY25
C0008373 Cholesteatoma LY75 4065 lymphocyte antigen 75 O60449
C0008373 Cholesteatoma STS 412 steroid sulfatase P08842
C0008373 Cholesteatoma MRC1 4360 mannose receptor C-type 1 P22897
C0008373 Cholesteatoma PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C0008373 Cholesteatoma PSMD10 5716 proteasome 26S subunit, non-ATPase 10 O75832
C0008373 Cholesteatoma CLEC7A 64581 C-type lectin domain containing 7A Q9BXN2
C0008373 Cholesteatoma PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0008373 Cholesteatoma CLEC12B 387837 C-type lectin domain family 12 member B Q2HXU8
C0008373 Cholesteatoma PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C0008373 Cholesteatoma PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C0008373 Cholesteatoma PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C0008372 Intrahepatic Cholestasis SC5D 6309 sterol-C5-desaturase O75845
C0008372 Intrahepatic Cholestasis HSD3B7 80270 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 Q9H2F3
C0008372 Intrahepatic Cholestasis CYP7B1 9420 cytochrome P450 family 7 subfamily B member 1 O75881
C0008372 Intrahepatic Cholestasis GPD2 2820 glycerol-3-phosphate dehydrogenase 2 P43304
C0008372 Intrahepatic Cholestasis AKR1D1 6718 aldo-keto reductase family 1 member D1 P51857
C0008372 Intrahepatic Cholestasis AMACR 23600 alpha-methylacyl-CoA racemase Q9UHK6
C0008372 Intrahepatic Cholestasis MTM1 4534 myotubularin 1 Q13496

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Last updated: August 19, 2024