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 9051 - 9075 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name UniProt ID ▲
C3203102 Idiopathic pulmonary arterial hypertension GBA 2629 glucosylceramidase beta P04062
C0029464 Osteosclerosis GBA 2629 glucosylceramidase beta P04062
C1276035 Pena-Shokeir syndrome type I GBA 2629 glucosylceramidase beta P04062
C0018790 Cardiac Arrest GBA 2629 glucosylceramidase beta P04062
C0751779 Action Myoclonus-Renal Failure Syndrome GBA 2629 glucosylceramidase beta P04062
C0020255 Hydrocephalus GBA 2629 glucosylceramidase beta P04062
C0030312 Pancytopenia GBA 2629 glucosylceramidase beta P04062
C0016788 Fucosidase Deficiency Disease FUCA1 2517 alpha-L-fucosidase 1 P04066
C1527336 Sjogren's Syndrome FUCA1 2517 alpha-L-fucosidase 1 P04066
C0036572 Seizures FUCA1 2517 alpha-L-fucosidase 1 P04066
C0086795 Pfaundler-Hurler Syndrome FUCA1 2517 alpha-L-fucosidase 1 P04066
C0006142 Malignant neoplasm of breast FUCA1 2517 alpha-L-fucosidase 1 P04066
C0040136 Thyroid Neoplasm FUCA1 2517 alpha-L-fucosidase 1 P04066
C0006826 Malignant Neoplasms FUCA1 2517 alpha-L-fucosidase 1 P04066
C0020676 Hypothyroidism FUCA1 2517 alpha-L-fucosidase 1 P04066
C1306459 Primary malignant neoplasm FUCA1 2517 alpha-L-fucosidase 1 P04066
C1384666 hearing impairment FUCA1 2517 alpha-L-fucosidase 1 P04066
C0162819 Skin Diseases, Vascular FUCA1 2517 alpha-L-fucosidase 1 P04066
C0235946 Cerebral atrophy FUCA1 2517 alpha-L-fucosidase 1 P04066
C0027533 Neck Neoplasms FUCA1 2517 alpha-L-fucosidase 1 P04066
C0023787 Lipodystrophy FUCA1 2517 alpha-L-fucosidase 1 P04066
C0019693 HIV Infections FUCA1 2517 alpha-L-fucosidase 1 P04066
C0027651 Neoplasms FUCA1 2517 alpha-L-fucosidase 1 P04066
C3714756 Intellectual Disability FUCA1 2517 alpha-L-fucosidase 1 P04066
C0004364 Autoimmune Diseases FUCA1 2517 alpha-L-fucosidase 1 P04066

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