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 8801 - 8825 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C1301937 Talipes SMC3 9126 structural maintenance of chromosomes 3 Q9UQE7
C1301937 Talipes SC5D 6309 sterol-C5-desaturase O75845
C1301937 Talipes DHCR24 1718 24-dehydrocholesterol reductase Q15392
C1301937 Talipes PTEN 5728 phosphatase and tensin homolog P60484
C1301355 Myelodysplastic-Myeloproliferative Diseases NCAM1 4684 neural cell adhesion molecule 1 P13591
C1301355 Myelodysplastic-Myeloproliferative Diseases PAFAH1B1 5048 platelet activating factor acetylhydrolase 1b regulatory subunit 1 P43034
C1300257 Thanatophoric dysplasia, type 2 LMAN1 3998 lectin, mannose binding 1 P49257
C1299240 Carcinoma of supraglottis PTEN 5728 phosphatase and tensin homolog P60484
C1299237 Endocervical Carcinoma PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C1298681 Oxalosis SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C1298681 Oxalosis AGXT 189 alanine--glyoxylate and serine--pyruvate aminotransferase P21549
C1292779 Myelodysplastic Syndrome with Isolated del(5q) ANXA5 308 annexin A5 P08758
C1292779 Myelodysplastic Syndrome with Isolated del(5q) HMMR 3161 hyaluronan mediated motility receptor O75330
C1292779 Myelodysplastic Syndrome with Isolated del(5q) CD14 929 CD14 molecule P08571
C1292779 Myelodysplastic Syndrome with Isolated del(5q) CD74 972 CD74 molecule P04233
C1292778 Chronic myeloproliferative disorder FUT1 2523 fucosyltransferase 1 (H blood group) P19526
C1292778 Chronic myeloproliferative disorder FUT4 2526 fucosyltransferase 4 P22083
C1292778 Chronic myeloproliferative disorder POFUT1 23509 protein O-fucosyltransferase 1 Q9H488
C1292778 Chronic myeloproliferative disorder PIGA 5277 phosphatidylinositol glycan anchor biosynthesis class A P37287
C1292778 Chronic myeloproliferative disorder IDS 3423 iduronate 2-sulfatase P22304
C1292778 Chronic myeloproliferative disorder CHI3L1 1116 chitinase 3 like 1 P36222
C1292778 Chronic myeloproliferative disorder CHIT1 1118 chitinase 1 Q13231
C1292778 Chronic myeloproliferative disorder PARP1 142 poly(ADP-ribose) polymerase 1 P09874
C1292778 Chronic myeloproliferative disorder HPRT1 3251 hypoxanthine phosphoribosyltransferase 1 P00492
C1292778 Chronic myeloproliferative disorder IDH1 3417 isocitrate dehydrogenase (NADP(+)) 1 O75874

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Last updated: August 19, 2024