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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 5551 - 5575 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:0070216
  • familial hyperinsulinemic hypoglycemia 3
  • Aliases:
    • HHF3
    • hyperinsulinemic hypoglycemia due to glucokinase deficiency
    • hyperinsulinism due to glucokinase deficiency
Rattus norvegicus (Norway rat)
DOID:12574
  • posterior uveitis
  • Aliases:
    • Uveitis, posterior
Homo sapiens (human)
DOID:0090101
  • lethal congenital glycogen storage disease of heart
  • Aliases:
    • fatal congenital hypertrophic cardiomyopathy due to GSD
    • fatal congenital hypertrophic cardiomyopathy due to glycogenosis
    • fatal congenital nonlysosomal cardiac glycogenosis
    • phosphorylase kinase deficiency of heart
Mus musculus (house mouse)
DOID:0060248
  • Simpson-Golabi-Behmel syndrome type 1
  • Aliases:
    • DGSX Golabi-Rosen syndrome
    • Golabi-Rosen syndrome
    • SGB syndrome
    • Sara Angers syndrome
    • Simpson dysmorphia syndrome
    • X-linked dysplasia gigantism syndrome
    • bulldog syndrome
Mus musculus (house mouse)
DOID:4897
  • bile duct carcinoma
Rattus norvegicus (Norway rat)
DOID:14451
  • hyperkalemic periodic paralysis
  • Aliases:
    • familial hyperkalemic periodic paralysis
Homo sapiens (human)
DOID:0111513
  • metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
  • Aliases:
    • metaphyseal dysplasia maxillary hypoplasia brachydactyly
    • metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
Homo sapiens (human)
DOID:0112026
  • non-syndromic X-linked intellectual disability 99
  • Aliases:
    • MRX99
    • X-linked mental retardation 99
Mus musculus (house mouse)
DOID:8923
  • skin melanoma
  • Aliases:
    • cutaneous melanoma
    • malignant ear melanoma
    • malignant lip melanoma
    • malignant lower limb melanoma
    • malignant melanoma of ear and/or external auricular canal
    • malignant melanoma of skin of lower limb
    • malignant melanoma of skin of trunk except scrotum
    • malignant melanoma of skin of upper limb
    • malignant neck melanoma
    • malignant scalp melanoma
    • malignant trunk melanoma
    • malignant upper limb melanoma
Homo sapiens (human)
DOID:591
  • phobic disorder
Homo sapiens (human)
DOID:0050460
  • Wolf-Hirschhorn syndrome
  • Aliases:
    • 4p deletion syndrome
    • PITT SYNDROME
    • Pitt-Rogers-Danks Syndrome
    • chromosome 4p16.3 deletion syndrome
Homo sapiens (human)
DOID:3762
  • cytochrome-c oxidase deficiency disease
  • Aliases:
    • MITOCHONDRIAL COMPLEX IV DEFICIENCY
Homo sapiens (human)
DOID:0110082
  • arrhythmogenic right ventricular dysplasia 11
  • Aliases:
    • ARVC11
    • ARVD11
    • arrhythmogenic right ventricular cardiomyopathy 11
    • familial arrhythmogenic right ventricular dysplasia 11
Danio rerio (zebrafish)
DOID:12217
  • Lewy body dementia
  • Aliases:
    • Dementia with Lewy bodies
    • Diffuse Lewy body disease
    • Lewy body disease
    • Senile dementia of the Lewy body type
Mus musculus (house mouse)
DOID:0080412
  • familial adenomatous polyposis 4
Mus musculus (house mouse)
DOID:631
  • fibromyalgia
Danio rerio (zebrafish)
DOID:0040090
  • autoimmune gastritis
Homo sapiens (human)
DOID:12858
  • Huntington's disease
  • Aliases:
    • HD
    • Huntington disease
    • Huntington's chorea
Saccharomyces cerevisiae S288C
DOID:0080124
  • mitochondrial DNA depletion syndrome 5
  • Aliases:
    • succinate-CoA ligase deficiency
Rattus norvegicus (Norway rat)
DOID:2154
  • nephroblastoma
  • Aliases:
    • adult nephroblastoma
Rattus norvegicus (Norway rat)
DOID:0060496
  • respiratory allergy
  • Aliases:
    • airway allergy
Homo sapiens (human)
DOID:0050789
  • tarsal-carpal coalition syndrome
Homo sapiens (human)
DOID:0050891
  • adrenal cortical adenoma
  • Aliases:
    • adrenocortical adenoma
Homo sapiens (human)
DOID:4249
  • Gerstmann-Straussler-Scheinker syndrome
  • Aliases:
    • Gerstmann-Straussler-Scheinker disease
    • PRION DEMENTIA
Mus musculus (house mouse)
DOID:0111780
  • TARP syndrome
  • Aliases:
    • Pierre Robin sequence-congenital heart defect-talipes syndrome
    • Pierre Robin syndrome-congenital heart defect-talipes syndrome
    • TARPS
    • talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
Mus musculus (house mouse)
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Last updated: December 9, 2024