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 8776 - 8800 of 62743 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Gene Name UniProt ID
C1861922 CAMPOMELIC DYSPLASIA MPI 4351 mannose phosphate isomerase P34949
C1861922 CAMPOMELIC DYSPLASIA IGF2R 3482 insulin like growth factor 2 receptor P11717
C1861922 CAMPOMELIC DYSPLASIA LGALS4 3960 galectin 4 P56470
C1861922 CAMPOMELIC DYSPLASIA CHKB 1120 choline kinase beta Q9Y259
C1861922 CAMPOMELIC DYSPLASIA ACE 1636 angiotensin I converting enzyme P12821
C1861922 CAMPOMELIC DYSPLASIA ALPL 249 alkaline phosphatase, biomineralization associated P05186
C1861922 CAMPOMELIC DYSPLASIA CD177 57126 CD177 molecule Q8N6Q3
C1861922 CAMPOMELIC DYSPLASIA DAG1 1605 dystroglycan 1 Q14118
C0677055 CARCINOMA OF VULVA ABO 28 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase P16442
C0677055 CARCINOMA OF VULVA SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C0677055 CARCINOMA OF VULVA DCN 1634 decorin P07585
C0677055 CARCINOMA OF VULVA CD44 960 CD44 molecule (Indian blood group) P16070
C0677055 CARCINOMA OF VULVA PTEN 5728 phosphatase and tensin homolog P60484
C0677055 CARCINOMA OF VULVA PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C2748542 CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) GPD1L 23171 glycerol-3-phosphate dehydrogenase 1 like Q8N335
C2748542 CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) CACNA2D1 781 calcium voltage-gated channel auxiliary subunit alpha2delta 1 P54289
C3150898 CARDIOMYOPATHY, DILATED, 1GG SDHA 6389 succinate dehydrogenase complex flavoprotein subunit A P31040
C1969024 CARDIOMYOPATHY, DILATED, 1X FKTN 2218 fukutin O75072
C1861861 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) ACE 1636 angiotensin I converting enzyme P12821
C1833511 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE CPT2 1376 carnitine palmitoyltransferase 2 P23786
C1833508 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET CPT2 1376 carnitine palmitoyltransferase 2 P23786
C1833518 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL CPT2 1376 carnitine palmitoyltransferase 2 P23786
C3805373 CATARACT 13 WITH ADULT i PHENOTYPE GCNT2 2651 glucosaminyl (N-acetyl) transferase 2 (I blood group) Q8N0V5
C3553494 CATARACT 38 AGK 55750 acylglycerol kinase Q53H12
C4225300 CATARACT 44 LSS 4047 lanosterol synthase P48449

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