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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 2751 - 2775 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0070215
  • familial hyperinsulinemic hypoglycemia 4
  • Aliases:
    • HHF4
    • hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
    • hyperinsulinism due to SCHAD deficiency
    • hyperinsulinism due to glutamodehydrogenase deficiency
    • hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Rattus norvegicus (Norway rat)
DOID:5327
  • retinal detachment
Rattus norvegicus (Norway rat)
DOID:0050426
  • Stevens-Johnson syndrome
Rattus norvegicus (Norway rat)
DOID:0050331
  • lacrimoauriculodentodigital syndrome 1
  • Aliases:
    • LEVY-HOLLISTER SYNDROME
    • Lacrimo-auriculo-dento-digital syndrome 1
Rattus norvegicus (Norway rat)
DOID:0110679
  • congenital myasthenic syndrome 4C
  • Aliases:
    • CMS Id
    • CMS1D
    • CMS4C
    • FIM1
    • congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
    • congenital myasthenic syndrome type Id
    • familial infantile myasthenia 1
Rattus norvegicus (Norway rat)
DOID:3211
  • lysosomal storage disease
  • Aliases:
    • disorder of lysosomal enzyme
    • inborn lysosomal enzyme disorder
    • lysosomal storage metabolism disorder
Rattus norvegicus (Norway rat)
DOID:1591
  • renovascular hypertension
Rattus norvegicus (Norway rat)
DOID:0110651
  • long QT syndrome 10
  • Aliases:
    • LQT10
Rattus norvegicus (Norway rat)
DOID:0110439
  • dilated cardiomyopathy 1P
  • Aliases:
    • CMD1P
Rattus norvegicus (Norway rat)
DOID:14735
  • hereditary angioedema
  • Aliases:
    • HANE
    • Hereditary angioneurotic edema
Rattus norvegicus (Norway rat)
DOID:0060258
  • reticulate acropigmentation of Kitamura
  • Aliases:
    • RAPK
Rattus norvegicus (Norway rat)
DOID:0111813
  • syndactyly type 8
  • Aliases:
    • fusion of metacarpals 4 and 5
    • metacarpal 4-5 fusion
Rattus norvegicus (Norway rat)
DOID:0081212
  • autosomal recessive intellectual developmental disorder 48
Rattus norvegicus (Norway rat)
DOID:2917
  • cryoglobulinemia
  • Aliases:
    • Cryoimmunoglobulinaemia
Rattus norvegicus (Norway rat)
DOID:0111526
  • Mullerian aplasia and hyperandrogenism
  • Aliases:
    • Mullerian duct failure and hyperandrogenism
    • WNT4 deficiency
Rattus norvegicus (Norway rat)
DOID:11372
  • megacolon
  • Aliases:
    • Dilatation of colon
Rattus norvegicus (Norway rat)
DOID:2219
  • Glanzmann's thrombasthenia
  • Aliases:
    • BDPLT2
    • Glanzmann thrombasthenia
    • Glycoprotein IIb/IIIa defect
    • Thrombocytasthenia
    • deficiency of GP IIb-IIIa complex
    • deficiency of glycoprotein complex IIb-IIIa
    • deficiency of platelet fibrinogen receptor
    • platelet glycoprotein IIb-IIIa deficiency
    • platelet-type bleeding disorder 2
    • thrombasthenia of Glanzmann and Naegeli
Rattus norvegicus (Norway rat)
DOID:8466
  • retinal degeneration
  • Aliases:
    • degeneration of retina
Rattus norvegicus (Norway rat)
DOID:0080546
  • non-alcoholic fatty liver
  • Aliases:
    • NAFL
    • nonalcoholic fatty liver
Rattus norvegicus (Norway rat)
DOID:285
  • hairy cell leukemia
Rattus norvegicus (Norway rat)
DOID:0111380
  • solitary median maxillary central incisor
  • Aliases:
    • SMMCI
    • fused incisors
    • single central maxillary incisor
    • single median maxillary central incisor
    • single upper central incisor
Rattus norvegicus (Norway rat)
DOID:0070303
  • multiple epiphyseal dysplasia 1
  • Aliases:
    • EDM1
    • MED1
    • multiple epiphyseal dysplasia COMP-related
    • polyepiphyseal dysplasia type 1
Rattus norvegicus (Norway rat)
DOID:6039
  • uveal melanoma
  • Aliases:
    • melanoma of Uvea
Rattus norvegicus (Norway rat)
DOID:12721
  • multiple epiphyseal dysplasia
  • Aliases:
    • polyepiphyseal dysplasia
Rattus norvegicus (Norway rat)
DOID:8691
  • mycosis fungoides
  • Aliases:
    • mycosis fungoides lymphoma
Rattus norvegicus (Norway rat)
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Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024