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 |
Disease ID | Disease Name | Gene Symbol | Gene ID ▲ | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0751495 | Seizures, Focal | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0684276 | Hypsarrhythmia | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0023895 | Liver diseases | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0020255 | Hydrocephalus | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C1561643 | Chronic Kidney Diseases | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0520947 | Clumsiness - motor delay | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0023896 | Alcoholic Liver Diseases | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0038273 | Stereotypic Movement Disorder | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0007222 | Cardiovascular Diseases | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0036857 | Severe intellectual disability | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0028754 | Obesity | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0024623 | Malignant neoplasm of stomach | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0011581 | Depressive disorder | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0010038 | Corneal Opacity | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C0699743 | Congenital muscular dystrophy (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C1879312 | Agyria | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C0686353 | Muscular Dystrophies, Limb-Girdle | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C1449563 | Cardiomyopathy, Familial Idiopathic | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C0265221 | Walker-Warburg congenital muscular dystrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C0018801 | Heart failure | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C1846672 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C1847759 | MUSCULAR DYSTROPHY, CONGENITAL, 1C | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C0037822 | Speech Disorders | FKRP | 79147 | fukutin related protein | Q9H9S5 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024