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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 251 - 275 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:8923
  • skin melanoma
  • Aliases:
    • Cutaneous Malignant Melanoma
    • cutaneous melanoma
    • malignant ear melanoma
    • malignant lip melanoma
    • malignant lower limb melanoma
    • malignant melanoma of ear and/or external auricular canal
    • malignant melanoma of skin of lower limb
    • malignant melanoma of skin of trunk except scrotum
    • malignant melanoma of skin of upper limb
    • malignant neck melanoma
    • malignant scalp melanoma
    • malignant trunk melanoma
    • malignant upper limb melanoma
Homo sapiens (human)
DOID:3151
  • skin squamous cell carcinoma
  • Aliases:
    • Epidermoid skin carcinoma
Homo sapiens (human)
DOID:0070051
  • autosomal dominant intellectual developmental disorder 21
  • Aliases:
    • MRD21
    • autosomal dominant mental retardation 21
    • autosomal dominant non-syndromic intellectual disability 21
Homo sapiens (human)
DOID:2581
  • chondrodysplasia punctata
  • Aliases:
    • Chondrodysplasia punctata congenita
Homo sapiens (human)
DOID:0111865
  • MEND syndrome
  • Aliases:
    • male EBP disorder with neurological defects
Homo sapiens (human)
DOID:0080352
  • X-linked chondrodysplasia punctata 2
  • Aliases:
    • Conradi-Hunermann Syndrome
    • Happle syndrome
Homo sapiens (human)
DOID:0080432
  • developmental and epileptic encephalopathy 60
  • Aliases:
    • DEE60
    • early infantile epileptic encephalopathy 60
Homo sapiens (human)
DOID:10591
  • pre-eclampsia
  • Aliases:
    • gestational hypertension
    • hypertension induced by pregnancy
    • pre-eclamptic toxaemia
    • preeclampsia
    • preeclampsia/eclampsia
    • pregnancy associated hypertension
    • pregnancy toxemia
    • proteinuric hypertension of pregnancy
    • toxaemia of pregnancy
Homo sapiens (human)
DOID:0110501
  • autosomal recessive nonsyndromic deafness 44
  • Aliases:
    • DFNB44
    • autosomal recessive deafness 44
Homo sapiens (human)
DOID:3407
  • carotid artery disease
  • Aliases:
    • disorder of carotid artery
Homo sapiens (human)
DOID:0111369
  • hyperalphalipoproteinemia 1
  • Aliases:
    • HALP1
Homo sapiens (human)
DOID:0111451
  • progressive myoclonus epilepsy 8
  • Aliases:
    • EMP8
    • PME type 8
    • progressive myoclonic epilepsy due to CERS1 deficiency
    • progressive myoclonus epilepsy type 8
Homo sapiens (human)
DOID:0110199
  • Charcot-Marie-Tooth disease dominant intermediate C
  • Aliases:
    • CMTDIC
    • Charcot-Marie-Tooth neuropathy dominant intermediate C
    • DI-CMTC
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Mus musculus (house mouse)
DOID:0111436
  • optic atrophy 11
  • Aliases:
    • OPA11
Homo sapiens (human)
DOID:0112350
  • spermatogenic failure 61
  • Aliases:
    • SPGF61
Homo sapiens (human)
DOID:0080865
  • primary ovarian insufficiency 8
Homo sapiens (human)
DOID:0060768
  • Smith-Magenis syndrome
  • Aliases:
    • 17p11.2 microdeletion syndrome
    • chromosome 17p11.2 deletion syndrome
Homo sapiens (human)
DOID:0050941
  • spastic ataxia 2
Homo sapiens (human)
DOID:1474
  • aggressive periodontitis
  • Aliases:
    • juvenile periodontitis
Homo sapiens (human)
DOID:3389
  • Papillon-Lefevre disease
  • Aliases:
    • Papillon Lefevre syndrome
    • Papillon-Lefvre syndrome
Homo sapiens (human)
DOID:1686
  • glaucoma
Mus musculus (house mouse)
DOID:5419
  • schizophrenia
  • Aliases:
    • schizophrenia-1
Homo sapiens (human)
DOID:2058
  • chronic mucocutaneous candidiasis
Homo sapiens (human)
DOID:0111287
  • psoriasis 13
  • Aliases:
    • PSORS13
Homo sapiens (human)
DOID:0081226
  • autosomal recessive intellectual developmental disorder 65
Homo sapiens (human)
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Last updated: December 8, 2025