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 26 - 50 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0000768 Congenital Abnormality PSAP 5660 prosaposin P07602
C0000768 Congenital Abnormality TMEM165 55858 transmembrane protein 165 Q9HC07
C0000768 Congenital Abnormality PMM2 5373 phosphomannomutase 2 O15305
C0000768 Congenital Abnormality PAPSS2 9060 3'-phosphoadenosine 5'-phosphosulfate synthase 2 O95340
C0000768 Congenital Abnormality SRD5A3 79644 steroid 5 alpha-reductase 3 Q9H8P0
C0000768 Congenital Abnormality IL1RAPL1 11141 interleukin 1 receptor accessory protein like 1 Q9NZN1
C0000768 Congenital Abnormality FBP1 2203 fructose-bisphosphatase 1 P09467
C0000768 Congenital Abnormality HPRT1 3251 hypoxanthine phosphoribosyltransferase 1 P00492
C0000768 Congenital Abnormality IDH1 3417 isocitrate dehydrogenase (NADP(+)) 1 O75874
C0000768 Congenital Abnormality SIRT6 51548 sirtuin 6 Q8N6T7
C0000768 Congenital Abnormality ENOSF1 55556 enolase superfamily member 1 Q7L5Y1
C0000768 Congenital Abnormality G6PC3 92579 glucose-6-phosphatase catalytic subunit 3 Q9BUM1
C0000768 Congenital Abnormality SMC3 9126 structural maintenance of chromosomes 3 Q9UQE7
C0000768 Congenital Abnormality PGAP3 93210 post-GPI attachment to proteins phospholipase 3 Q96FM1
C0000768 Congenital Abnormality FIG4 9896 FIG4 phosphoinositide 5-phosphatase Q92562
C0000768 Congenital Abnormality CEACAM5 1048 CEA cell adhesion molecule 5 P06731
C0000768 Congenital Abnormality CHAT 1103 choline O-acetyltransferase P28329
C0000768 Congenital Abnormality DGKK 139189 diacylglycerol kinase kappa Q5KSL6
C0000768 Congenital Abnormality ADH1B 125 alcohol dehydrogenase 1B (class I), beta polypeptide P00325
C0000768 Congenital Abnormality ADH1C 126 alcohol dehydrogenase 1C (class I), gamma polypeptide P00326
C0000768 Congenital Abnormality CYP1A2 1544 cytochrome P450 family 1 subfamily A member 2 P05177
C0000768 Congenital Abnormality CYP17A1 1586 cytochrome P450 family 17 subfamily A member 1 P05093
C0000768 Congenital Abnormality ACE 1636 angiotensin I converting enzyme P12821
C0000768 Congenital Abnormality DHCR7 1717 7-dehydrocholesterol reductase Q9UBM7
C0000768 Congenital Abnormality ACAN 176 aggrecan P16112

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Last updated: August 19, 2024