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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 8576 - 8600 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0060574
  • von Willebrand's disease 2
  • Aliases:
    • VWD type 2
    • VWD2
    • von Willebrand disease type 2
    • von Willebrand disease type II
Mus musculus (house mouse)
DOID:10581
  • metachromatic leukodystrophy
  • Aliases:
    • MLD
    • Scholz cerebral sclerosis
    • arylsulfatase A deficiency
    • deficiency of cerebroside-sulfatase
    • sulfatide lipoidosis
Mus musculus (house mouse)
DOID:0080946
  • retinal dystrophy with leukodystrophy
  • Aliases:
    • ACBD5 deficiency
Mus musculus (house mouse)
DOID:216
  • dental caries
  • Aliases:
    • Dental caries extending into pulp
    • Dental caries of smooth surface
    • Dental caries pit and fissure
Mus musculus (house mouse)
DOID:0111095
  • Fanconi anemia complementation group A
  • Aliases:
    • FANCA
Mus musculus (house mouse)
DOID:0060875
  • isolated growth hormone deficiency type III
  • Aliases:
    • Fleisher syndrome
    • IGHD III
    • X-linked IGHD
    • X-linked agammaglobulinemia and isolated growth hormone deficiency
    • X-linked hypogammaglobulinemia and isolated growth hormone deficiency
    • X-linked isolated growth hormone deficiency
    • congenital IGHD type III
    • congenital isolated GH deficiency type III
    • congenital isolated growth hormone deficiency type III
    • growth hormone deficiency with hypogammaglobulinemia
Mus musculus (house mouse)
DOID:14791
  • Leber congenital amaurosis
  • Aliases:
    • LCA
    • Leber's amaurosis
    • Leber's congenital amaurosis
    • Leber's disease
Mus musculus (house mouse)
DOID:0080404
  • orofacial cleft 11
  • Aliases:
    • nonsyndromic cleft lip with or without cleft palate 11
Mus musculus (house mouse)
DOID:2978
  • carbohydrate metabolic disorder
  • Aliases:
    • disorder of carbohydrate transport and metabolism
    • inborn carbohydrate metabolism disorder
    • inborn errors of carbohydrate metabolism
Mus musculus (house mouse)
DOID:8557
  • oropharynx cancer
  • Aliases:
    • Oropharyngeal carcinoma
    • malignant Oropharyngeal tumor
    • malignant tumor of oropharynx
    • malignant tumour of mesopharynx
    • oropharyngeal cancer
Mus musculus (house mouse)
DOID:0060290
  • Ohdo syndrome, SBBYS variant
  • Aliases:
    • Say-Barber-Biesecker-Young-Simpson syndrome
    • blepharophimosis-intellectual disability syndrome, SBBYS type
Mus musculus (house mouse)
DOID:0070249
  • autosomal dominant Emery-Dreifuss muscular dystrophy 4
  • Aliases:
    • EDMD4
    • Emery-Dreifuss muscular dystrophy 4 with variable features
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Mus musculus (house mouse)
DOID:0111011
  • cone-rod dystrophy 6
  • Aliases:
    • CORD6
    • RCD2
    • retinal cone dystrophy 2
Mus musculus (house mouse)
DOID:0111323
  • idiopathic generalized epilepsy 9
  • Aliases:
    • EIG9
Mus musculus (house mouse)
DOID:0111725
  • geleophysic dysplasia 1
  • Aliases:
    • GPHYSD1
Mus musculus (house mouse)
DOID:0060887
  • ossification of the posterior longitudinal ligament of spine
  • Aliases:
    • OPLL
Mus musculus (house mouse)
DOID:3042
  • allergic contact dermatitis
Mus musculus (house mouse)
DOID:3500
  • gallbladder adenocarcinoma
  • Aliases:
    • adenocarcinoma of the gallbladder
Mus musculus (house mouse)
DOID:0110970
  • brachydactyly type C
  • Aliases:
    • BDC
Mus musculus (house mouse)
DOID:0111345
  • transient bullous dermolysis of the newborn
  • Aliases:
    • DEB, bullous dermolysis of the newborn
    • DEB-BDN
Mus musculus (house mouse)
DOID:0050934
  • ovarian clear cell carcinoma
  • Aliases:
    • clear-cell ovarian carcinoma
Mus musculus (house mouse)
DOID:0070028
  • APP-related cerebral amyloid angiopathy
  • Aliases:
    • Amyloidosis, Cerebroarterial, App-Related
    • Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
    • Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Flemish Variant
    • Cerebral Amyloid Angiopathy, App-Related, Iowa Variant
    • Cerebral Amyloid Angiopathy, App-Related, Italian Variant
    • HCHWAD
Mus musculus (house mouse)
DOID:14450
  • 46 XX gonadal dysgenesis
  • Aliases:
    • ovarian dysgenesis
Mus musculus (house mouse)
DOID:4927
  • Klatskin's tumor
  • Aliases:
    • Klatskin tumor
    • Klatskin tumour
    • Klatskin's tumour
    • Perihilar extrahepatic bile duct carcinoma
    • hilar cholangiocarcinoma
    • hilar cholangiocellular carcinoma
Mus musculus (house mouse)
DOID:0090015
  • Cenani-Lenz syndactyly syndrome
  • Aliases:
    • syndactyly type 7
Mus musculus (house mouse)
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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024