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 47326 - 47350 of 62743 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Gene Name UniProt ID
C0000768 Congenital Abnormality TGDS 23483 TDP-glucose 4,6-dehydratase O95455
C0000768 Congenital Abnormality GAS1 2619 growth arrest specific 1 P54826
C0000768 Congenital Abnormality NAAA 27163 N-acylethanolamine acid amidase Q02083
C0000768 Congenital Abnormality GLDC 2731 glycine decarboxylase P23378
C0000768 Congenital Abnormality ARSD 414 arylsulfatase D P51689
C0000768 Congenital Abnormality PAFAH1B1 5048 platelet activating factor acetylhydrolase 1b regulatory subunit 1 P43034
C0000768 Congenital Abnormality PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C0000768 Congenital Abnormality PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C0000768 Congenital Abnormality PRNP 5621 prion protein F7VJQ1
C0000768 Congenital Abnormality MASP1 5648 mannan binding lectin serine peptidase 1 P48740
C0000768 Congenital Abnormality PTEN 5728 phosphatase and tensin homolog P60484
C0000768 Congenital Abnormality PTGDS 5730 prostaglandin D2 synthase P41222
C0000768 Congenital Abnormality SHMT1 6470 serine hydroxymethyltransferase 1 P34896
C4041558 Cone-rod synaptic disorder, congenital nonprogressive NYX 60506 nyctalopin Q9GZU5
C1863634 Cone-Rod Dystrophy 7 ELOVL4 6785 ELOVL fatty acid elongase 4 Q9GZR5
C3489532 Cone-Rod Dystrophy 2 SLC35A1 10559 solute carrier family 35 member A1 P78382
C3489532 Cone-Rod Dystrophy 2 GAL3ST1 9514 galactose-3-O-sulfotransferase 1 Q99999
C3489532 Cone-Rod Dystrophy 2 H6PD 9563 hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase O95479
C3489532 Cone-Rod Dystrophy 2 CD38 952 CD38 molecule P28907
C3489532 Cone-Rod Dystrophy 2 ALOX12 239 arachidonate 12-lipoxygenase, 12S type P18054
C3489532 Cone-Rod Dystrophy 2 SIGLEC7 27036 sialic acid binding Ig like lectin 7 Q9Y286
C3489532 Cone-Rod Dystrophy 2 CNTN6 27255 contactin 6 Q9UQ52
C3489532 Cone-Rod Dystrophy 2 HSD11B1 3290 hydroxysteroid 11-beta dehydrogenase 1 P28845
C3489532 Cone-Rod Dystrophy 2 LGALS1 3956 galectin 1 P09382
C3489532 Cone-Rod Dystrophy 2 CNTN3 5067 contactin 3 Q9P232

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Last updated: August 19, 2024