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 54201 - 54225 of 62743 in total
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

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Last updated: August 19, 2024