GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 7801 - 7825 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0080564
  • congenital disorder of glycosylation Il
  • Aliases:
    • congenital disorder of glycosylation 1l
Saccharomyces cerevisiae S288C
DOID:0070261
  • congenital disorder of glycosylation type IIi
  • Aliases:
    • CDG IIi
    • CDG syndrome type IIi
    • CDG2I
    • CDGIIdi
    • COG5-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIi
    • Congenital disorder of glycosylation type 2i
Saccharomyces cerevisiae S288C
DOID:0080567
  • congenital disorder of glycosylation Ip
  • Aliases:
    • congenital disorder of glycosylation 1p
Saccharomyces cerevisiae S288C
DOID:0070264
  • congenital disorder of glycosylation type IIl
  • Aliases:
    • CDG IIl
    • CDG syndrome type IIL
    • CDG2L
    • CDGIIdl
    • COG6-CGD
    • Congenital disorder of glycosylation type 2l
Saccharomyces cerevisiae S288C
DOID:0110409
  • retinitis pigmentosa 46
  • Aliases:
    • RP46
Saccharomyces cerevisiae S288C
DOID:0080559
  • congenital disorder of glycosylation Ig
  • Aliases:
    • ALG12-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1g
Saccharomyces cerevisiae S288C
DOID:0060713
  • autosomal recessive congenital ichthyosis 4B
  • Aliases:
    • ARCI4B
    • harlequin ichthyosis
    • harlequin type ichthyosis congenita
    • harlequin type ichthyosis fetalis
Saccharomyces cerevisiae S288C
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Saccharomyces cerevisiae S288C
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Saccharomyces cerevisiae S288C
DOID:0070399
  • hypomyelinating leukodystrophy 18
  • Aliases:
    • HLD18
Homo sapiens (human)
DOID:0060786
  • hypomyelinating leukodystrophy
  • Aliases:
    • HLD
Homo sapiens (human)
DOID:0081223
  • glycosylphosphatidylinositol biosynthesis defect 16
  • Aliases:
    • Intellectual developmental disorder, autosomal recessive 62
Saccharomyces cerevisiae S288C
DOID:0111673
  • Saul-Wilson syndrome
  • Aliases:
    • SWILS
    • microcephalic osteodysplastic dysplasia, Saul-Wilson type
Saccharomyces cerevisiae S288C
DOID:0070262
  • congenital disorder of glycosylation type IIj
  • Aliases:
    • CDG IIj
    • CDG syndrome type IIj
    • CDG2J
    • CDGIIdj
    • COG4-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIj
    • Congenital disorder of glycosylation type 2j
Saccharomyces cerevisiae S288C
DOID:2754
  • glycogen storage disease VI
  • Aliases:
    • Glycogen storage disease 6
    • Hers' disease
    • glycogen storage disease type VI
    • hepatic glycogen phosphorylase deficiency
    • hepatophosphorylase deficiency glycogenosis
Saccharomyces cerevisiae S288C
DOID:3650
  • lactic acidosis
Saccharomyces cerevisiae S288C
DOID:2746
  • glycogen storage disease V
  • Aliases:
    • Glycogen storage disease 5
    • Glycogen storage disease, type V
    • McArdle's disease
    • glycogen storage disease type V
    • myophosphorylase deficiency
Saccharomyces cerevisiae S288C
DOID:0050665
  • fetal alcohol syndrome
Saccharomyces cerevisiae S288C
DOID:0080377
  • peroxisomal biogenesis disorder
Saccharomyces cerevisiae S288C
DOID:9408
  • acute myocardial infarction
Saccharomyces cerevisiae S288C
DOID:8577
  • ulcerative colitis
  • Aliases:
    • Left-sided ulcerative colitis
Saccharomyces cerevisiae S288C
DOID:2377
  • multiple sclerosis
  • Aliases:
    • Generalized multiple sclerosis
    • insular sclerosis
Saccharomyces cerevisiae S288C
DOID:4001
  • ovarian carcinoma
Saccharomyces cerevisiae S288C
DOID:10976
  • membranous glomerulonephritis
  • Aliases:
    • membranous nephropathy
Saccharomyces cerevisiae S288C
DOID:0080557
  • congenital disorder of glycosylation Ie
  • Aliases:
    • congenital disorder of glycosylation 1e
Saccharomyces cerevisiae S288C

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Last updated: August 19, 2024