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 4176 - 4200 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0112056
  • X-linked intellectual disability-short stature-overweight syndrome
  • Aliases:
    • MRX12
    • MRX35
    • X-linked mental retardation 12
    • X-linked mental retardation 35
Homo sapiens (human)
DOID:0112056
  • X-linked intellectual disability-short stature-overweight syndrome
  • Aliases:
    • MRX12
    • MRX35
    • X-linked mental retardation 12
    • X-linked mental retardation 35
Saccharomyces cerevisiae S288C
DOID:0050950
  • autosomal recessive cerebellar ataxia
Homo sapiens (human)
DOID:0070409
  • autosomal recessive spinocerebellar ataxia 28
  • Aliases:
    • SCAR28
Homo sapiens (human)
DOID:0111908
  • thrombophilia due to thrombomodulin defect
  • Aliases:
    • THBD-related bleeding disorder
    • THBD-related coagulopathy
    • THPH12
    • thrombomodulin-related bleeding disorder
    • thrombomodulin-related coagulopathy
Homo sapiens (human)
DOID:0070521
  • peeling skin syndrome 2
  • Aliases:
    • PSS2
Homo sapiens (human)
DOID:0110880
  • holoprosencephaly 4
  • Aliases:
    • HPE4
Homo sapiens (human)
DOID:0110214
  • cleft soft palate
  • Aliases:
    • cleft velum
    • cleft velum palatinum
    • soft cleft palate
Homo sapiens (human)
DOID:0070234
  • Loeys-Dietz syndrome 2
  • Aliases:
    • AAT3
    • LDS2
    • Marfan syndrome type II
    • familial throacic aortic aneurysm 3
Homo sapiens (human)
DOID:0070273
  • hereditary nonpolyposis colorectal cancer type 6
  • Aliases:
    • HNPCC6
Homo sapiens (human)
DOID:0070235
  • Loeys-Dietz syndrome 1
  • Aliases:
    • AAT5
    • Furlong syndrome
    • LDS1
    • familial throacic aortic aneurysm 5
Homo sapiens (human)
DOID:5585
  • Ferguson-Smith tumor
  • Aliases:
    • Multiple self-healing epithelioma of Ferguson-Smith
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)
DOID:0080530
  • granular corneal dystrophy 1
  • Aliases:
    • corneal dystrophy, Groenouw type I
Homo sapiens (human)
DOID:0060447
  • epithelial basement membrane dystrophy
  • Aliases:
    • Cogan corneal dystrophy
    • EBMD
    • microcystic corneal dystrophy
Homo sapiens (human)
DOID:0060444
  • granular corneal dystrophy 2
  • Aliases:
    • CGD2
    • avellino corneal dystrophy
    • combined granular-lattice corneal dystrophy
    • corneal dystrophy, Avellino type
    • granular corneal dystrophy type 2
Homo sapiens (human)
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: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:5637
  • pancreatic adenosquamous carcinoma
  • Aliases:
    • Adenosquamous carcinoma of pancreas
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:0050466
  • Loeys-Dietz syndrome
Homo sapiens (human)
DOID:11263
  • chlamydia
  • Aliases:
    • Chlamydia trachomatis infectious disease
    • Chlamydial Infection
    • chlamydial disease
Homo sapiens (human)
DOID:0081122
  • Catel Manzke syndrome
  • Aliases:
    • Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
    • Micrognathia digital syndrome
Homo sapiens (human)
DOID:0112187
  • thyroid dyshormonogenesis 3
  • Aliases:
    • TDH3
    • genetic defect in thyroid hormonogenesis 3
Homo sapiens (human)

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Last updated: December 9, 2024