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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 8251 - 8275 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0060258
  • reticulate acropigmentation of Kitamura
  • Aliases:
    • RAPK
Homo sapiens (human)
DOID:0111241
  • congenital muscular dystrophy-dystroglycanopathy type A5
  • Aliases:
    • MDDGA5
    • Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Homo sapiens (human)
DOID:0110467
  • autosomal recessive nonsyndromic deafness 12
  • Aliases:
    • DFNB12
    • autosomal recessive deafness 12
Homo sapiens (human)
DOID:2218
  • blood platelet disease
  • Aliases:
    • Thrombocytopathy
    • platelet disorder
Homo sapiens (human)
DOID:0070221
  • progressive familial intrahepatic cholestasis
  • Aliases:
    • PFIC; Byler disease
Homo sapiens (human)
DOID:0110651
  • long QT syndrome 10
  • Aliases:
    • LQT10
Homo sapiens (human)
DOID:0080488
  • mucolipidosis
Homo sapiens (human)
DOID:0080381
  • nephrotic syndrome type 13
Homo sapiens (human)
DOID:0060573
  • von Willebrand's disease 1
  • Aliases:
    • VWD type 1
    • VWD1
    • von Willebrand disease type 1
    • von Willebrand disease type I
Homo sapiens (human)
DOID:0110590
  • autosomal dominant nonsyndromic deafness 69
  • Aliases:
    • DCUA
    • DFNA69
    • autosomal dominant deafness 69
    • unilateral or asymmetric congenital deafness
Homo sapiens (human)
DOID:0070074
  • autosomal dominant intellectual developmental disorder 44
  • Aliases:
    • MRD44
    • autosomal dominant intellectual developmental disorder 44 with microcephaly
    • autosomal dominant mental retardation 44
    • autosomal dominant non-syndromic intellectual disability 44
Homo sapiens (human)
DOID:10485
  • esophageal atresia
  • Aliases:
    • Congenital atresia of esophagus
    • Congenital imperforate esophagus
    • Imperforate esophagus
    • Oesophageal atresia
Homo sapiens (human)
DOID:0111228
  • Sveinsson chorioretinal atrophy
  • Aliases:
    • HPCD
    • SCRA
    • atrophia areata
    • helicoid peripapillary chorioretinal degeneration
    • peripapillary chorioretinal degeneration, Icelandic type
Homo sapiens (human)
DOID:0080036
  • SOST-related sclerosing bone dysplasia
  • Aliases:
    • van Buchem disease
Homo sapiens (human)
DOID:3458
  • breast adenocarcinoma
  • Aliases:
    • Mammary adenocarcinoma
Homo sapiens (human)
DOID:0070268
  • congenital disorder of glycosylation type IIp
  • Aliases:
    • CDG IIp
    • CDG syndrome type IIp
    • CDG2P
    • CDGIIdp
    • Carbohydrate deficient glycoprotein syndrome type IIp
    • Congenital disorder of glycosylation type 2p
    • TMEM199-CDG
Homo sapiens (human)
DOID:0080153
  • medium chain acyl-CoA dehydrogenase deficiency
Homo sapiens (human)
DOID:1474
  • aggressive periodontitis
  • Aliases:
    • juvenile periodontitis
Homo sapiens (human)
DOID:0060364
  • Galloway-Mowat syndrome 1
  • Aliases:
    • Galloway syndrome
    • SCAR5
    • autosomal recessive spinocerebellar ataxia 5
    • microcephaly, hiatal hernia and nephrotic syndrome
    • nephrosis-microcephaly syndrome
    • nephrosis-neuronal dysmigration syndrome
Homo sapiens (human)
DOID:0110832
  • Usher syndrome type 1F
  • Aliases:
    • USH1F
    • Usher syndrome type IF
Homo sapiens (human)
DOID:0060413
  • chromosome 22q11.2 deletion syndrome, distal
  • Aliases:
    • DiGeorge syndrome and Velocardiofacial syndrome
    • distal 22q11.2 microdeletion syndrome
Homo sapiens (human)
DOID:0050718
  • vitamin metabolic disorder
Homo sapiens (human)
DOID:0111384
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
  • Aliases:
    • IBMPFD2
    • MSP2
    • multisystem proteinopathy 2
Homo sapiens (human)
DOID:9273
  • citrullinemia
  • Aliases:
    • ASS deficiency
    • deficiency of citrulline-aspartate ligase
Homo sapiens (human)
DOID:999
  • hypereosinophilic syndrome
  • Aliases:
    • Eosinophilic leukocytosis
    • eosinophilia
Homo sapiens (human)
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Last updated: December 9, 2024