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 10076 - 10100 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name UniProt ID ▼
C1631597 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) THEM5 284486 thioesterase superfamily member 5 Q8N1Q8
C2711227 Steatohepatitis THEM5 284486 thioesterase superfamily member 5 Q8N1Q8
C0015695 Fatty Liver THEM5 284486 thioesterase superfamily member 5 Q8N1Q8
C0027651 Neoplasms LYG1 129530 lysozyme g1 Q8N1E2
C0027651 Neoplasms GPC2 221914 glypican 2 Q8N158
C0027819 Neuroblastoma GPC2 221914 glypican 2 Q8N158
C0700095 Central neuroblastoma GPC2 221914 glypican 2 Q8N158
C0006826 Malignant Neoplasms GPC2 221914 glypican 2 Q8N158
C0345904 Malignant neoplasm of liver GPC2 221914 glypican 2 Q8N158
C1306459 Primary malignant neoplasm GPC2 221914 glypican 2 Q8N158
C0006142 Malignant neoplasm of breast GPC2 221914 glypican 2 Q8N158
C0021364 Male infertility PGAM4 441531 phosphoglycerate mutase family member 4 Q8N0Y7
C0038379 Strabismus FCSK 197258 fucose kinase Q8N0W3
C3714756 Intellectual Disability FCSK 197258 fucose kinase Q8N0W3
C0282577 Congenital Disorders of Glycosylation FCSK 197258 fucose kinase Q8N0W3
C0028738 Nystagmus FCSK 197258 fucose kinase Q8N0W3
C0036572 Seizures FCSK 197258 fucose kinase Q8N0W3
C0017168 Gastroesophageal reflux disease FCSK 197258 fucose kinase Q8N0W3
C0029124 Optic Atrophy FCSK 197258 fucose kinase Q8N0W3
C1833213 Hyperferritinemia, hereditary, with congenital cataracts GCNT2 2651 glucosaminyl (N-acetyl) transferase 2 (I blood group) Q8N0V5
C0009691 Congenital cataract GCNT2 2651 glucosaminyl (N-acetyl) transferase 2 (I blood group) Q8N0V5
C0007847 Malignant tumor of cervix GCNT2 2651 glucosaminyl (N-acetyl) transferase 2 (I blood group) Q8N0V5
C0266539 Congenital total cataract GCNT2 2651 glucosaminyl (N-acetyl) transferase 2 (I blood group) Q8N0V5
C3805373 CATARACT 13 WITH ADULT i PHENOTYPE GCNT2 2651 glucosaminyl (N-acetyl) transferase 2 (I blood group) Q8N0V5
C4048328 cervical cancer GCNT2 2651 glucosaminyl (N-acetyl) transferase 2 (I blood group) Q8N0V5

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Last updated: August 19, 2024