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 62001 - 62025 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 FKRP 79147 fukutin related protein Q9H9S5
C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 POMK 84197 protein O-mannose kinase Q9H5K3
C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 LARGE1 9215 LARGE xylosyl- and glucuronyltransferase 1 O95461
C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 GMPPB 29925 GDP-mannose pyrophosphorylase B Q9Y5P6
C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 CRPPA 729920 CDP-L-ribitol pyrophosphorylase A A4D126
C4290140 recurrent myocardial infarction ABO 28 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase P16442
C4290140 recurrent myocardial infarction ARSA 410 arylsulfatase A P15289
C4290140 recurrent myocardial infarction ACE 1636 angiotensin I converting enzyme P12821
C4290140 recurrent myocardial infarction PLA2G15 23659 phospholipase A2 group XV Q8NCC3
C4290140 recurrent myocardial infarction ACSS2 55902 acyl-CoA synthetase short chain family member 2 Q9NR19
C4290140 recurrent myocardial infarction DEGS1 8560 delta 4-desaturase, sphingolipid 1 O15121
C4303761 Familial thrombocytosis CD177 57126 CD177 molecule Q8N6Q3
C4303860 Craniofacial ulnar renal syndrome COLEC10 10584 collectin subfamily member 10 Q9Y6Z7
C4303860 Craniofacial ulnar renal syndrome MASP1 5648 mannan binding lectin serine peptidase 1 P48740
C4303860 Craniofacial ulnar renal syndrome COLEC11 78989 collectin subfamily member 11 Q9BWP8
C4304832 Primary pigmented nodular adrenocortical disease APRT 353 adenine phosphoribosyltransferase P07741
C4310624 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 ACOX2 8309 acyl-CoA oxidase 2 Q99424
C4310654 MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC CHAT 1103 choline O-acetyltransferase P28329
C4310666 SPERMATOGENIC FAILURE 17 PLCZ1 89869 phospholipase C zeta 1 Q86YW0
C4310779 SPERMATOGENIC FAILURE 15 CYP2E1 1571 cytochrome P450 family 2 subfamily E member 1 P05181
C4310809 ANTERIOR SEGMENT DYSGENESIS 5 CYP1B1 1545 cytochrome P450 family 1 subfamily B member 1 Q16678

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