GlyCosmos Diseases

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

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 14076 - 14100 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0060563
  • Char syndrome
Homo sapiens (human)
DOID:0080943
  • 46,XX sex reversal 5
Homo sapiens (human)
DOID:3702
  • cervical adenocarcinoma
  • Aliases:
    • adenocarcinoma cervix uteri
    • adenocarcinoma of cervix
    • adenocarcinoma of the uterine Cervix
Homo sapiens (human)
DOID:3493
  • signet ring cell adenocarcinoma
  • Aliases:
    • Signet ring carcinoma
    • Signet ring cell carcinoma
Homo sapiens (human)
DOID:0070432
  • hyperphosphatasia with impaired intellectual development syndrome 5
  • Aliases:
    • GPIBD11
    • HPMRS5
    • glycosylphosphatidylinositol biosynthesis defect 11
    • hyperphosphatasia with mental retardation syndrome 5
Mus musculus (house mouse)
DOID:0110782
  • hereditary spastic paraplegia 31
  • Aliases:
    • SPG31
    • autosomal dominant spastic paraplegia 31
    • autosomal dominant spastic paraplegia type 31
Mus musculus (house mouse)
DOID:0080350
  • retinitis pigmentosa 77
Mus musculus (house mouse)
DOID:0111030
  • hemochromatosis type 3
  • Aliases:
    • HFE3
    • TFR2-related hemochromatosis
    • hemochromatosis due to defect in transferrin receptor 2
Homo sapiens (human)
DOID:2211
  • factor XIII deficiency
  • Aliases:
    • Factor XIII deficiency disease
    • Hereditary factor XIII deficiency disease
    • deficiency, Laki-Lorand factor
Mus musculus (house mouse)
DOID:4258
  • Weissenbacher-Zweymuller syndrome
  • Aliases:
    • Piere-Robin syndrome
    • Pierre Robin Malformation
Homo sapiens (human)
DOID:0111948
  • immunodeficiency 46
  • Aliases:
    • CID due to TFRC deficiency
    • IMD46
    • TFRC-related combined immunodeficiency
    • combined immunodeficiency due to TFRC deficiency
Homo sapiens (human)
DOID:374
  • nutrition disease
  • Aliases:
    • Nutritional disorder
Homo sapiens (human)
DOID:0112187
  • thyroid dyshormonogenesis 3
  • Aliases:
    • TDH3
    • genetic defect in thyroid hormonogenesis 3
Homo sapiens (human)
DOID:11263
  • chlamydia
  • Aliases:
    • Chlamydia trachomatis infectious disease
    • Chlamydial Infection
    • chlamydial disease
Homo sapiens (human)
DOID:0111333
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
  • Aliases:
    • EMARDD
    • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
    • congenital myopathy 10A
Mus musculus (house mouse)
DOID:0081345
  • congenital myopathy 10B
Mus musculus (house mouse)
DOID:0050466
  • Loeys-Dietz syndrome
Homo sapiens (human)
DOID:0070233
  • Loeys-Dietz syndrome 4
  • Aliases:
    • Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations
    • LDS4
Homo sapiens (human)
DOID:5637
  • pancreatic adenosquamous carcinoma
  • Aliases:
    • Adenosquamous carcinoma of pancreas
Homo sapiens (human)
DOID:0110070
  • arrhythmogenic right ventricular dysplasia 1
  • Aliases:
    • ARVC1
    • Uhl anomaly
    • arrhythmogenic right ventricular cardiomyopathy 1
Homo sapiens (human)
DOID:0070236
  • Loeys-Dietz syndrome 5
  • Aliases:
    • LDS5
    • RNHF
    • Reinhoff syndrome
Homo sapiens (human)
DOID:0111130
  • focal segmental glomerulosclerosis 5
  • Aliases:
    • FSGS5
Mus musculus (house mouse)
DOID:0110205
  • Charcot-Marie-Tooth disease dominant intermediate E
  • Aliases:
    • CMTDIE
    • Charcot-Marie-Tooth disease-nephropathy syndrome
    • Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Mus musculus (house mouse)
DOID:0060453
  • Reis-Bucklers corneal dystrophy
  • Aliases:
    • RBCD
    • anterior limiting membrane dystrophy type I
    • corneal dystrophy of Bowman layer type I
    • geographic corneal dystrophy
    • granular corneal dystrophy type III
Homo sapiens (human)
DOID:0060455
  • Thiel-Behnke corneal dystrophy
  • Aliases:
    • TBCD
    • Waardenburg-Jonker corneal dystrophy
    • anterior limiting membrane dystrophy type II
    • corneal dystrophy honeycomb-shaped
    • corneal dystrophy of Bowman layer type II
Homo sapiens (human)

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Last updated: December 9, 2024