GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1576 - 1600 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0090022
  • split hand-foot malformation 5
  • Aliases:
    • SHFM5
Homo sapiens (human)
DOID:0081331
  • glycogen storage disease Ic
Homo sapiens (human)
DOID:0110057
  • amelogenesis imperfecta type 2A1
  • Aliases:
    • AI2A1
    • amelogenesis imperfecta pigmented hypomaturation type 1
    • amelogenesis imperfecta type IIA1
Homo sapiens (human)
DOID:9111
  • cutaneous leishmaniasis
  • Aliases:
    • Asian Desert Cutaneous Leishmaniasis
    • Leproid leishmaniasis
    • diffuse cutaneous leishmaniasis
Homo sapiens (human)
DOID:0110870
  • congenital stationary night blindness 1A
  • Aliases:
    • CSNB1A
    • NBMI
    • complete CSNB X-linked
    • congenital stationary night blindness 1A X-linked
    • congenital stationary night blindness with myopia
    • hemeralopia-myopia
    • myopia-night blindness
Homo sapiens (human)
DOID:5844
  • myocardial infarction
  • Aliases:
    • Myocardial infarct
    • heart attack
Homo sapiens (human)
DOID:0070145
  • hereditary sensory and autonomic neuropathy type 5
  • Aliases:
    • HSAN5
    • hereditary sensory and autonomic neuropathy type V
Homo sapiens (human)
DOID:11695
  • portal vein thrombosis
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:0111425
  • restrictive cardiomyopathy 1
  • Aliases:
    • RCM1
    • familial restrictive cardiomyopathy 1
Homo sapiens (human)
DOID:12377
  • spinal muscular atrophy
Homo sapiens (human)
DOID:13452
  • scleritis
Homo sapiens (human)
DOID:0110481
  • autosomal recessive nonsyndromic deafness 23
  • Aliases:
    • DFNB23
    • autosomal recessive deafness 23
Homo sapiens (human)
DOID:1209
  • nutritional optic neuropathy
Homo sapiens (human)
DOID:4501
  • orofaciodigital syndrome
  • Aliases:
    • oral-facial-digital syndrome
Homo sapiens (human)
DOID:7763
  • carcinoma of supraglottis
  • Aliases:
    • Supraglottic carcinoma
Homo sapiens (human)
DOID:0112300
  • spondylometaphyseal dysplasia with cone-rod dystrophy
  • Aliases:
    • SMD-CRD
    • SMDCRD
    • spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Homo sapiens (human)
DOID:2058
  • chronic mucocutaneous candidiasis
Homo sapiens (human)
DOID:0050883
  • infantile cerebellar-retinal degeneration
Homo sapiens (human)
DOID:1751
  • malignant conjunctival melanoma
  • Aliases:
    • Conjunctival melanoma
    • malignant melanoma of conjunctiva
Homo sapiens (human)
DOID:9362
  • status asthmaticus
  • Aliases:
    • Asthma with status asthmaticus
    • Severe asthma attack
Homo sapiens (human)
DOID:883
  • parasitic helminthiasis infectious disease
  • Aliases:
    • helminth infection
    • helminthiasis
    • helminthosis
    • worm infection
Homo sapiens (human)
DOID:0110220
  • Brugada syndrome 3
  • Aliases:
    • BRGDA3
Homo sapiens (human)
DOID:1588
  • thrombocytopenia
Homo sapiens (human)
DOID:4896
  • bile duct adenocarcinoma
Homo sapiens (human)

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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: August 19, 2024