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 58126 - 58150 of 62743 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Gene Name UniProt ID
C2717836 Steroid Sulfatase Deficiency Disease PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C2717836 Steroid Sulfatase Deficiency Disease PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C2717836 Steroid Sulfatase Deficiency Disease PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C2717836 Steroid Sulfatase Deficiency Disease PTEN 5728 phosphatase and tensin homolog P60484
C0403396 Steroid-sensitive nephrotic syndrome EXT1 2131 exostosin glycosyltransferase 1 Q16394
C0403396 Steroid-sensitive nephrotic syndrome HPSE 10855 heparanase Q9Y251
C0403396 Steroid-sensitive nephrotic syndrome ACE 1636 angiotensin I converting enzyme P12821
C0403396 Steroid-sensitive nephrotic syndrome PLCG2 5336 phospholipase C gamma 2 P16885
C0403396 Steroid-sensitive nephrotic syndrome GLO1 2739 glyoxalase I Q04760
C0403396 Steroid-sensitive nephrotic syndrome PLA2G7 7941 phospholipase A2 group VII Q13093
C0038325 Stevens-Johnson Syndrome PARP1 142 poly(ADP-ribose) polymerase 1 P09874
C0038325 Stevens-Johnson Syndrome AKR1B1 231 aldo-keto reductase family 1 member B P15121
C0038325 Stevens-Johnson Syndrome HSPG2 3339 heparan sulfate proteoglycan 2 P98160
C0038325 Stevens-Johnson Syndrome MICA 100507436 MHC class I polypeptide-related sequence A Q29983
C0038325 Stevens-Johnson Syndrome CYP2C19 1557 cytochrome P450 family 2 subfamily C member 19 P33261
C0038325 Stevens-Johnson Syndrome CYP2C9 1559 cytochrome P450 family 2 subfamily C member 9 P11712
C0038325 Stevens-Johnson Syndrome CYP3A4 1576 cytochrome P450 family 3 subfamily A member 4 P08684
C0038325 Stevens-Johnson Syndrome PTGIS 5740 prostaglandin I2 synthase Q16647
C3658302 Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum PARP1 142 poly(ADP-ribose) polymerase 1 P09874
C3658302 Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum HSPG2 3339 heparan sulfate proteoglycan 2 P98160
C3658302 Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum PTGIS 5740 prostaglandin I2 synthase Q16647
C3658302 Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C2020284 Stickler syndrome, type 1 CEACAM5 1048 CEA cell adhesion molecule 5 P06731
C2020284 Stickler syndrome, type 1 TECTA 7007 tectorin alpha O75443
C2020284 Stickler syndrome, type 1 COL9A2 1298 collagen type IX alpha 2 chain Q14055

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024