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 476 - 500 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C4551977 Microphthalmos, Autosomal Recessive ALDH1A3 220 aldehyde dehydrogenase 1 family member A3 P47895
C4551976 HYPOTRICHOSIS 1 GALNT3 2591 polypeptide N-acetylgalactosaminyltransferase 3 Q14435
C4551974 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 INPP4A 3631 inositol polyphosphate-4-phosphatase type I A Q96PE3
C4551968 Lissencephaly, X-Linked, 1 PAFAH1B1 5048 platelet activating factor acetylhydrolase 1b regulatory subunit 1 P43034
C4551952 Myopathy, Centronuclear, 1 MTMR14 64419 myotubularin related protein 14 Q8NCE2
C4551952 Myopathy, Centronuclear, 1 MTM1 4534 myotubularin 1 Q13496
C4551910 Acute Inflammatory Demyelinating Polyneuropathy ICAM1 3383 intercellular adhesion molecule 1 P05362
C4551910 Acute Inflammatory Demyelinating Polyneuropathy PTGDS 5730 prostaglandin D2 synthase P41222
C4551905 Pulmonary Venous Return Anomaly LFNG 3955 LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Q8NES3
C4551905 Pulmonary Venous Return Anomaly DHCR24 1718 24-dehydrocholesterol reductase Q15392
C4551903 Total anomalous pulmonary venous return DHCR24 1718 24-dehydrocholesterol reductase Q15392
C4551902 Craniosynostosis, Type 1 FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C4551898 Cholestasis, progressive familial intrahepatic 1 ABO 28 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase P16442
C4551898 Cholestasis, progressive familial intrahepatic 1 NAGLU 4669 N-acetyl-alpha-glucosaminidase P54802
C4551898 Cholestasis, progressive familial intrahepatic 1 OGA 10724 O-GlcNAcase O60502
C4551898 Cholestasis, progressive familial intrahepatic 1 GGT1 2678 gamma-glutamyltransferase 1 P19440
C4551898 Cholestasis, progressive familial intrahepatic 1 HSD3B7 80270 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 Q9H2F3
C4551895 Familial Cold Autoinflammatory Syndrome 1 PLCG2 5336 phospholipase C gamma 2 P16885
C4551893 Toxemia of pregnancy ATP6AP2 10159 ATPase H+ transporting accessory protein 2 O75787
C4551861 Telangiectasia, Hereditary Hemorrhagic, Type 1 PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C4551861 Telangiectasia, Hereditary Hemorrhagic, Type 1 PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C4551861 Telangiectasia, Hereditary Hemorrhagic, Type 1 PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C4551861 Telangiectasia, Hereditary Hemorrhagic, Type 1 PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C4551858 Vesicoureteral Reflux 1 SLC3A1 6519 solute carrier family 3 member 1 Q07837
C4551858 Vesicoureteral Reflux 1 ACE 1636 angiotensin I converting enzyme P12821

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