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 10176 - 10200 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0009806 Constipation SDHA 6389 succinate dehydrogenase complex flavoprotein subunit A P31040
C0009917 Contracture DPAGT1 1798 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Q9H3H5
C0009917 Contracture PYGM 5837 glycogen phosphorylase, muscle associated P11217
C0009917 Contracture DCN 1634 decorin P07585
C0009917 Contracture PLA2G2A 5320 phospholipase A2 group IIA P14555
C0009917 Contracture PLA2G6 8398 phospholipase A2 group VI O60733
C0009917 Contracture HSPG2 3339 heparan sulfate proteoglycan 2 P98160
C0009946 Conversion disorder ABO 28 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase P16442
C0009946 Conversion disorder COMT 1312 catechol-O-methyltransferase P21964
C0009946 Conversion disorder ACHE 43 acetylcholinesterase (Cartwright blood group) P22303
C0009946 Conversion disorder MMUT 4594 methylmalonyl-CoA mutase P22033
C0009946 Conversion disorder PRNP 5621 prion protein P04156
C0009946 Conversion disorder PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0009946 Conversion disorder PRNP 5621 prion protein F7VJQ1
C0010034 Corneal Diseases ICAM1 3383 intercellular adhesion molecule 1 P05362
C0010036 Corneal dystrophy CHST6 4166 carbohydrate sulfotransferase 6 Q9GZX3
C0010036 Corneal dystrophy GLA 2717 galactosidase alpha P06280
C0010036 Corneal dystrophy CTSA 5476 cathepsin A P10619
C0010036 Corneal dystrophy GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0010036 Corneal dystrophy GCDH 2639 glutaryl-CoA dehydrogenase Q92947
C0010036 Corneal dystrophy STS 412 steroid sulfatase P08842
C0010036 Corneal dystrophy AGK 55750 acylglycerol kinase Q53H12
C0010036 Corneal dystrophy SELP 6403 selectin P P16109
C0010038 Corneal Opacity B4GAT1 11041 beta-1,4-glucuronyltransferase 1 O43505
C0010038 Corneal Opacity POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1

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Last updated: August 19, 2024