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 52526 - 52550 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0010038 Corneal Opacity GLA 2717 galactosidase alpha P06280
C0010038 Corneal Opacity GLB1 2720 galactosidase beta 1 P16278
C0010038 Corneal Opacity GUSB 2990 glucuronidase beta P08236
C0010038 Corneal Opacity SUMF1 285362 sulfatase modifying factor 1 Q8NBK3
C0010038 Corneal Opacity IDUA 3425 alpha-L-iduronidase P35475
C0010038 Corneal Opacity ASAH1 427 N-acylsphingosine amidohydrolase 1 Q13510
C0010038 Corneal Opacity NEU1 4758 neuraminidase 1 Q99519
C0010038 Corneal Opacity CTSA 5476 cathepsin A P10619
C0010038 Corneal Opacity SRD5A3 79644 steroid 5 alpha-reductase 3 Q9H8P0
C0010038 Corneal Opacity RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0010038 Corneal Opacity MYORG 57462 myogenesis regulating glycosidase (putative) Q6NSJ0
C0010038 Corneal Opacity LCAT 3931 lecithin-cholesterol acyltransferase P04180
C0010038 Corneal Opacity STS 412 steroid sulfatase P08842
C0010038 Corneal Opacity NGLY1 55768 N-glycanase 1 Q96IV0
C0010038 Corneal Opacity PIGL 9487 phosphatidylinositol glycan anchor biosynthesis class L Q9Y2B2
C0010038 Corneal Opacity DAG1 1605 dystroglycan 1 Q14118
C0010038 Corneal Opacity CYP1B1 1545 cytochrome P450 family 1 subfamily B member 1 Q16678
C0010038 Corneal Opacity KDSR 2531 3-ketodihydrosphingosine reductase Q06136
C0010038 Corneal Opacity OCRL 4952 OCRL inositol polyphosphate-5-phosphatase Q01968
C0010038 Corneal Opacity CRPPA 729920 CDP-L-ribitol pyrophosphorylase A A4D126
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

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Last updated: August 19, 2024