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 8751 - 8775 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name UniProt ID ▼
C1531647 Cerebral ventriculomegaly POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0338502 Hypoplasia of the optic nerve POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0017601 Glaucoma POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0035304 Retinal Degeneration POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0020459 Hyperinsulinism POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C1969621 DEAFNESS, AUTOSOMAL RECESSIVE 63 LRTOMT 220074 leucine rich transmembrane and O-methyltransferase domain containing Q8WZ04
C1384666 hearing impairment LRTOMT 220074 leucine rich transmembrane and O-methyltransferase domain containing Q8WZ04
C0006142 Malignant neoplasm of breast LRTOMT 220074 leucine rich transmembrane and O-methyltransferase domain containing Q8WZ04
C0018784 Sensorineural Hearing Loss (disorder) LRTOMT 220074 leucine rich transmembrane and O-methyltransferase domain containing Q8WZ04
C0678222 Breast Carcinoma LRTOMT 220074 leucine rich transmembrane and O-methyltransferase domain containing Q8WZ04
C0452138 Sensorineural hearing loss, bilateral LRTOMT 220074 leucine rich transmembrane and O-methyltransferase domain containing Q8WZ04
C0023903 Liver neoplasms ACOT12 134526 acyl-CoA thioesterase 12 Q8WYK0
C2239176 Liver carcinoma ACOT12 134526 acyl-CoA thioesterase 12 Q8WYK0
C0024620 Primary Malignant Liver Neoplasm ACOT12 134526 acyl-CoA thioesterase 12 Q8WYK0
C0345904 Malignant neoplasm of liver ACOT12 134526 acyl-CoA thioesterase 12 Q8WYK0
C1858991 Childhood Ataxia with Central Nervous System Hypomyelinization ACOT12 134526 acyl-CoA thioesterase 12 Q8WYK0
C0023520 Leukodystrophy ACOT12 134526 acyl-CoA thioesterase 12 Q8WYK0
C0854795 Resectable Malignant Liver Neoplasm ACOT12 134526 acyl-CoA thioesterase 12 Q8WYK0
C0017636 Glioblastoma NEU4 129807 neuraminidase 4 Q8WWR8
C0027819 Neuroblastoma NEU4 129807 neuraminidase 4 Q8WWR8
C0027651 Neoplasms NEU4 129807 neuraminidase 4 Q8WWR8
C0006826 Malignant Neoplasms NEU4 129807 neuraminidase 4 Q8WWR8
C1306459 Primary malignant neoplasm NEU4 129807 neuraminidase 4 Q8WWR8
C0700095 Central neuroblastoma NEU4 129807 neuraminidase 4 Q8WWR8
C1621958 Glioblastoma Multiforme NEU4 129807 neuraminidase 4 Q8WWR8

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