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 40801 - 40825 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0242459 Simple Pulmonary Eosinophilia CEL 1056 carboxyl ester lipase P19835
C0242459 Simple Pulmonary Eosinophilia SLC27A5 10998 solute carrier family 27 member 5 Q9Y2P5
C0242473 Anus Prolapse FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0242490 Enthesopathy ENPP1 5167 ectonucleotide pyrophosphatase/phosphodiesterase 1 P22413
C0242526 Gonadal Dysgenesis, 45,X SMC3 9126 structural maintenance of chromosomes 3 Q9UQE7
C0242526 Gonadal Dysgenesis, 45,X CAT 847 catalase P04040
C0242584 Autoimmune thrombocytopenia HPSE 10855 heparanase Q9Y251
C0242584 Autoimmune thrombocytopenia MBD4 8930 methyl-CpG binding domain 4, DNA glycosylase O95243
C0242584 Autoimmune thrombocytopenia MRC1 4360 mannose receptor C-type 1 P22897
C0242584 Autoimmune thrombocytopenia NCAM1 4684 neural cell adhesion molecule 1 P13591
C0242584 Autoimmune thrombocytopenia CLEC1B 51266 C-type lectin domain family 1 member B Q9P126
C0242584 Autoimmune thrombocytopenia PTGS1 5742 prostaglandin-endoperoxide synthase 1 P23219
C0242584 Autoimmune thrombocytopenia CD44 960 CD44 molecule (Indian blood group) P16070
C0242584 Autoimmune thrombocytopenia CD72 971 CD72 molecule P21854
C0242584 Autoimmune thrombocytopenia PTEN 5728 phosphatase and tensin homolog P60484
C0242597 Leukocyte-Adhesion Deficiency Syndrome FUT4 2526 fucosyltransferase 4 P22083
C0242666 Protein S Deficiency GLA 2717 galactosidase alpha P06280
C0242770 Bronchiolitis Obliterans Organizing Pneumonia SFTPA1 653509 surfactant protein A1 Q8IWL2
C0242852 Proliferative vitreoretinopathy HPRT1 3251 hypoxanthine phosphoribosyltransferase 1 P00492
C0242852 Proliferative vitreoretinopathy RPE 6120 ribulose-5-phosphate-3-epimerase Q96AT9
C0242852 Proliferative vitreoretinopathy DCN 1634 decorin P07585
C0242852 Proliferative vitreoretinopathy ACE 1636 angiotensin I converting enzyme P12821
C0242852 Proliferative vitreoretinopathy HPGDS 27306 hematopoietic prostaglandin D synthase O60760
C0242852 Proliferative vitreoretinopathy LGALS3 3958 galectin 3 P17931
C0242852 Proliferative vitreoretinopathy LGALS1 3956 galectin 1 P09382

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Last updated: August 19, 2024