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 4226 - 4250 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0112006
  • immunodeficiency 69
  • Aliases:
    • IMD69
Mus musculus (house mouse)
DOID:0111956
  • immunodeficiency 27B
  • Aliases:
    • IMD27B
    • autosomal dominant IFNGR1 deficiency
    • autosomal dominant MSMD due to partial IFNgammaR1 deficiency
    • autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
    • autosomal dominant immunodeficiency 27B, mycobacteriosis
    • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
    • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
Mus musculus (house mouse)
DOID:0111955
  • immunodeficiency 27A
  • Aliases:
    • IMD27A
    • autosomal recessive IFNGR1 deficiency
    • autosomal recessive MSMD due to partial IFNgammaR1 deficiency
    • autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
    • autosomal recessive immunodeficiency 27A, mycobacteriosis
    • autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
    • autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
Mus musculus (house mouse)
DOID:0111995
  • immunodeficiency 28
  • Aliases:
    • IFNGR2 deficiency
    • IMD28
    • MSMD due to complete IFNgammaR2 deficiency
    • MSMD due to complete interferon gamma receptor 2 deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
    • immunodeficiency 28, mycobacteriosis
Mus musculus (house mouse)
DOID:0081138
  • agammaglobulinemia 6
Mus musculus (house mouse)
DOID:0050750
  • splenic marginal zone lymphoma
Mus musculus (house mouse)
DOID:0050718
  • vitamin metabolic disorder
Homo sapiens (human)
DOID:10223
  • dermatomyositis
  • Aliases:
    • Polymyositis with skin involvement
    • dermatopolymyositis
Homo sapiens (human)
DOID:0111866
  • trichothiodystrophy
  • Aliases:
    • TTD
Homo sapiens (human)
DOID:7319
  • axonal neuropathy
Homo sapiens (human)
DOID:0080451
  • developmental and epileptic encephalopathy 29
  • Aliases:
    • DEE29
    • early infantile epileptic encephalopathy 29
Homo sapiens (human)
DOID:0110177
  • Charcot-Marie-Tooth disease axonal type 2N
  • Aliases:
    • CMT2N
    • Charcot-Marie-Tooth neuropathy axonal type 2N
    • autosomal dominant Charcot-Marie-Tooth disease type 2N
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2N
Homo sapiens (human)
DOID:0050984
  • spinocerebellar ataxia type 37
Homo sapiens (human)
DOID:14183
  • alcoholic neuropathy
  • Aliases:
    • Alcohol-related polyneuropathy
    • Alcoholic polyneuropathy
Mus musculus (house mouse)
DOID:4248
  • coronary stenosis
  • Aliases:
    • Coronary artery stenosis
Mus musculus (house mouse)
DOID:5577
  • gastrinoma
  • Aliases:
    • Gastrin Secreting tumor
    • Gastrin cell tumour
    • malignant gastrinoma
Mus musculus (house mouse)
DOID:0080552
  • congenital disorder of glycosylation Ia
  • Aliases:
    • PMM2-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1a
Mus musculus (house mouse)
DOID:8791
  • breast carcinoma in situ
  • Aliases:
    • Non-Infiltrating carcinoma of breast
    • carcinoma in situ of breast
Mus musculus (house mouse)
DOID:1697
  • ichthyosis
  • Aliases:
    • ichthyoses
    • non-syndromic ichthyosis
Mus musculus (house mouse)
DOID:10456
  • tonsillitis
  • Aliases:
    • Throat infection - tonsillitis
    • chronic tonsillitis
Mus musculus (house mouse)
DOID:9271
  • ornithine carbamoyltransferase deficiency
  • Aliases:
    • deficiency of citrulline phosphorylase
    • ornithine transcarbamylase deficiency
Mus musculus (house mouse)
DOID:3491
  • Turner syndrome
  • Aliases:
    • Bonnevie-Ullrich syndrome
    • Gonadal dysgenesis - Turner
    • Karyotype 45, X
    • Monosomy X
    • XO syndrome
    • monosomy X syndrome
Mus musculus (house mouse)
DOID:2870
  • endometrial adenocarcinoma
  • Aliases:
    • adenocarcinoma of endometrium
    • adenocarcinoma of the Endometrium
    • adenocarcinoma of uterus
    • endometrial adenoacanthoma
    • endometrial endometrioid adenocarcinoma
    • endometrial endometrioid adenocarcinoma with squamous differentiation
    • endometrioid adenoma or carcinoma
    • endometrioid adenomas and carcinomas
    • endometrioid carcinoma of Endometrium
Homo sapiens (human)
DOID:10611
  • protein-losing enteropathy
  • Aliases:
    • Enteropathy, exudative
    • Exudative enteropathy
Homo sapiens (human)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Homo sapiens (human)

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Last updated: December 9, 2024