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 53726 - 53750 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0008924 Cleft upper lip LARGE1 9215 LARGE xylosyl- and glucuronyltransferase 1 O95461
C0008924 Cleft upper lip COLEC10 10584 collectin subfamily member 10 Q9Y6Z7
C0008924 Cleft upper lip GAD1 2571 glutamate decarboxylase 1 Q99259
C0008924 Cleft upper lip GPC3 2719 glypican 3 P51654
C0008924 Cleft upper lip TGDS 23483 TDP-glucose 4,6-dehydratase O95455
C0008924 Cleft upper lip NSDHL 50814 NAD(P) dependent steroid dehydrogenase-like Q15738
C0008924 Cleft upper lip MASP1 5648 mannan binding lectin serine peptidase 1 P48740
C0008924 Cleft upper lip COLEC11 78989 collectin subfamily member 11 Q9BWP8
C0008924 Cleft upper lip MTMR3 8897 myotubularin related protein 3 Q13615
C0008909 Claustrophobia CAT 847 catalase P04040
C0008780 Ciliary Motility Disorders INPP5E 56623 inositol polyphosphate-5-phosphatase E Q9NRR6
C0008728 Eosinophilic granulomatosis with polyangiitis CMAS 55907 cytidine monophosphate N-acetylneuraminic acid synthetase Q8NFW8
C0008728 Eosinophilic granulomatosis with polyangiitis VCAM1 7412 vascular cell adhesion molecule 1 P19320
C0008728 Eosinophilic granulomatosis with polyangiitis TNFRSF10C 8794 TNF receptor superfamily member 10c O14798
C0008707 Chronic osteomyelitis SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C0008707 Chronic osteomyelitis NANS 54187 N-acetylneuraminate synthase Q9NR45
C0008707 Chronic osteomyelitis ACYP2 98 acylphosphatase 2 P14621
C0008677 Bronchitis, Chronic CHID1 66005 chitinase domain containing 1 Q9BWS9
C0008677 Bronchitis, Chronic ICAM1 3383 intercellular adhesion molecule 1 P05362
C0008677 Bronchitis, Chronic SFTPD 6441 surfactant protein D P35247
C0008677 Bronchitis, Chronic CYP2B6 1555 cytochrome P450 family 2 subfamily B member 6 P20813
C0008582 Chromoblastomycosis CLEC7A 64581 C-type lectin domain containing 7A Q9BXN2
C0008533 Hemophilia B SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C0008533 Hemophilia B G6PD 2539 glucose-6-phosphate dehydrogenase P11413
C0008533 Hemophilia B DCXR 51181 dicarbonyl and L-xylulose reductase Q7Z4W1

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Last updated: August 19, 2024