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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 7676 - 7700 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:14213
  • hypophosphatasia
  • Aliases:
    • deficiency of alkaline phosphatase
Saccharomyces cerevisiae S288C
DOID:3192
  • neurilemmoma
  • Aliases:
    • Psammomatous schwannoma
    • schwannoma
Rattus norvegicus (Norway rat)
DOID:0080447
  • developmental and epileptic encephalopathy 43
  • Aliases:
    • DEE43
    • early infantile epileptic encephalopathy 43
Drosophila melanogaster (fruit fly)
DOID:0060884
  • renal hypomagnesemia 6
  • Aliases:
    • HOMG6
Rattus norvegicus (Norway rat)
DOID:0080115
  • mitochondrial complex III deficiency nuclear type 6
Mus musculus (house mouse)
DOID:5585
  • Ferguson-Smith tumor
  • Aliases:
    • Multiple self-healing epithelioma of Ferguson-Smith
Rattus norvegicus (Norway rat)
DOID:0111160
  • camptodactyly-tall stature-scoliosis-hearing loss syndrome
  • Aliases:
    • CATSHL syndrome
Drosophila melanogaster (fruit fly)
DOID:1064
  • cystinosis
  • Aliases:
    • cystine storage disease
Caenorhabditis elegans
DOID:409
  • liver disease
  • Aliases:
    • disorder of liver
    • hepatic disorder
Mus musculus (house mouse)
DOID:11726
  • Emery-Dreifuss muscular dystrophy
  • Aliases:
    • EDMD
Mus musculus (house mouse)
DOID:9452
  • steatotic liver disease
  • Aliases:
    • Fatty change of liver
    • SLD
    • Steatosis of liver
    • alcoholic fatty liver
    • fatty liver disease
    • hepatic lipidosis
    • hepatic steatosis
Homo sapiens (human)
DOID:0050445
  • X-linked dominant hypophosphatemic rickets
  • Aliases:
    • Hypophosphatemia, Vitamin D-Resistant Rickets
    • Vitamin D-Resistant Rickets, X-Linked
    • X-linked hypophosphatemia
    • hypophosphatemic rickets X-linked dominant
Drosophila melanogaster (fruit fly)
DOID:0080288
  • spinocerebellar ataxia 46
Xenopus laevis (African clawed frog)
DOID:9938
  • dacryocystitis
Mus musculus (house mouse)
DOID:9255
  • frontotemporal dementia
  • Aliases:
    • Wilhemsen-Lynch disease
    • frontotemporal lobar degeneration
    • multiple system tauopathy with presenile dementia
    • pallidopontonigral degeneration
Homo sapiens (human)
DOID:0111576
  • dehydrated hereditary stomatocytosis 1
  • Aliases:
    • PSHK1
    • dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
    • pseudohyperkalemia edinburgh
    • pseudohyperkalemia familial 1, due to red cell leak
Caenorhabditis elegans
DOID:0070384
  • developmental and epileptic encephalopathy 98
  • Aliases:
    • DEE98
    • early infantile epileptic encephalopathy 98
Rattus norvegicus (Norway rat)
DOID:0111663
  • ectodermal dysplasia 10A
  • Aliases:
    • ECTD10A
    • ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Homo sapiens (human)
DOID:0060475
  • myoclonic-atonic epilepsy
  • Aliases:
    • EEOC
    • childhood onset epileptic encephalopathy
Rattus norvegicus (Norway rat)
DOID:0070041
  • autosomal dominant intellectual developmental disorder 11
  • Aliases:
    • MRD11
    • autosomal dominant mental retardation 11
    • autosomal dominant non-syndromic intellectual disability 11
Mus musculus (house mouse)
DOID:0050433
  • fatal familial insomnia
Rattus norvegicus (Norway rat)
DOID:0110948
  • Waardenburg syndrome type 1
  • Aliases:
    • WS1
    • Waardenburg syndrome type I
Homo sapiens (human)
DOID:0110458
  • dilated cardiomyopathy 1BB
  • Aliases:
    • CMD1BB
Mus musculus (house mouse)
DOID:0060479
  • Shwachman-Diamond syndrome
  • Aliases:
    • Shwachman syndrome
    • Shwachman-Bodian-Diamond syndrome
    • Shwachman-Diamond type metaphyseal dysplasia
    • pancreatic insufficiency and bone marrow dysfunction
Homo sapiens (human)
DOID:0090044
  • dystonia 9
Mus musculus (house mouse)
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Acknowledgements

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