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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 4276 - 4300 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0090111
  • PCWH syndrome
  • Aliases:
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Homo sapiens (human)
DOID:0081274
  • peroxisome biogenesis disorder 14B
Homo sapiens (human)
DOID:1996
  • rectum adenocarcinoma
  • Aliases:
    • Rectal adenocarcinoma
Homo sapiens (human)
DOID:0081210
  • autosomal recessive intellectual developmental disorder 46
Homo sapiens (human)
DOID:0070243
  • primary coenzyme Q10 deficiency 6
  • Aliases:
    • COQ10D6
    • coenzyme Q10 deficiency, primary, 6
    • familial steroid-resistant nephrotic syndrome with sensorineural deafness
Homo sapiens (human)
DOID:9432
  • renal glycosuria
  • Aliases:
    • renal diabetes
Homo sapiens (human)
DOID:0080242
  • syndromic X-linked mental retardation Hough type
Homo sapiens (human)
DOID:0080205
  • CAKUT
  • Aliases:
    • Congenital anomalies of the kidney and urinary tract
    • Renal or urinary tract malformation
Homo sapiens (human)
DOID:13252
  • mesenteric vascular occlusion
Homo sapiens (human)
DOID:0090109
  • autosomal dominant hypocalcemia
  • Aliases:
    • HYPOC
Homo sapiens (human)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Homo sapiens (human)
DOID:0080224
  • autosomal dominant dystrophic epidermolysis bullosa
Homo sapiens (human)
DOID:0050934
  • ovarian clear cell carcinoma
  • Aliases:
    • clear-cell ovarian carcinoma
Homo sapiens (human)
DOID:0111243
  • acromicric dysplasia
  • Aliases:
    • ACMICD
    • acromicric skeletal dysplasia
Homo sapiens (human)
DOID:0112370
  • Coffin-Siris syndrome 12
  • Aliases:
    • CSS12
Homo sapiens (human)
DOID:0090002
  • Tietz syndrome
  • Aliases:
    • Tietz albinism-deafness syndrome
    • albinism-deafness of Tietz
    • hypopigmentation/deafness of Tietz
Homo sapiens (human)
DOID:0080545
  • hyper IgE syndrome
  • Aliases:
    • hyper immunoglobulin E syndrome
Homo sapiens (human)
DOID:5804
  • discrete subaortic stenosis
Homo sapiens (human)
DOID:11830
  • myopia
  • Aliases:
    • near vision
    • near-sightedness
    • short-sightedness
Homo sapiens (human)
DOID:0090122
  • aromatase excess syndrome
  • Aliases:
    • AEXS
    • familial hyperestrogenism
    • hereditary prepubertal gynecomastia
    • increased aromatase activity
Homo sapiens (human)
DOID:0110014
  • age related macular degeneration 1
  • Aliases:
    • ARMD1
    • age related maculopathy 1
Homo sapiens (human)
DOID:0111265
  • Boucher-Neuhauser syndrome
  • Aliases:
    • ataxia-hypogonadism-choroidal dystrophy syndrome
Homo sapiens (human)
DOID:2237
  • hepatitis
  • Aliases:
    • acute and subacute liver necrosis
    • acute hepatitis
    • acute/subac. necrosis of liver
    • animal hepatitis
    • chronic hepatitis
    • chronic persistent hepatitis
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0080611
  • anterior segment dysgenesis 6
Homo sapiens (human)
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Last updated: December 9, 2024