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 2601 - 2625 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:0080544
  • hyper IgM syndrome
  • Aliases:
    • HIGM
    • hyperimmunoglobulin M syndrome
    • immunodeficiency with hyper-IgM
Homo sapiens (human)
DOID:9279
  • hyperhomocysteinemia
Homo sapiens (human)
DOID:0090132
  • complex cortical dysplasia with other brain malformations 7
  • Aliases:
    • CDCBM7
    • polymicrogyria due to TUBB2B mutation
Homo sapiens (human)
DOID:0110818
  • hereditary spastic paraplegia 73
  • Aliases:
    • SPG73
    • autosomal dominant spastic paraplegia 73
    • autosomal dominant spastic paraplegia type 73
Homo sapiens (human)
DOID:3068
  • glioblastoma
  • Aliases:
    • GBM
    • adult glioblastoma multiforme
    • glioblastoma multiforme
    • grade IV adult Astrocytic tumor
    • primary glioblastoma multiforme
    • spongioblastoma multiforme
Homo sapiens (human)
DOID:4449
  • macular retinal edema
  • Aliases:
    • macular edema
    • macular oedema
    • macular retinal oedema
Homo sapiens (human)
DOID:0110649
  • long QT syndrome 8
  • Aliases:
    • LQT8
Homo sapiens (human)
DOID:0060656
  • autosomal recessive congenital ichthyosis 1
  • Aliases:
    • ARCI1
Homo sapiens (human)
DOID:3172
  • papillary adenoma
  • Aliases:
    • glandular papilloma
Homo sapiens (human)
DOID:5078
  • ganglioglioma
  • Aliases:
    • CNS ganglioglioma
    • adult ganglioglioma
    • childhood ganglioglioma
Homo sapiens (human)
DOID:4441
  • dysgerminoma
Homo sapiens (human)
DOID:0110671
  • congenital myasthenic syndrome 6
  • Aliases:
    • CMS Ia2
    • CMS1A2
    • CMS6
    • CMSEA
    • FIM
    • FIMG2
    • congenital myasthenic syndrome 6, presynaptic
    • congenital myasthenic syndrome type Ia2
    • congenital presynaptic myasthenic syndrome associated with episodic apnea
    • familial infantile myasthenia
    • familial infantile myasthenia gravis 2
Homo sapiens (human)
DOID:3113
  • papillary carcinoma
Homo sapiens (human)
DOID:9306
  • mechanical strabismus
Homo sapiens (human)
DOID:8634
  • prostate carcinoma in situ
  • Aliases:
    • PIN III
    • carcinoma in situ of prostate
    • grade III PIN
Homo sapiens (human)
DOID:0060678
  • catecholaminergic polymorphic ventricular tachycardia 4
  • Aliases:
    • CVPT4
Homo sapiens (human)
DOID:0111140
  • IGSF1 deficiency syndrome
  • Aliases:
    • CHTE
    • X-linked central congenital hypothyroidism with late-onset macroorchidism
    • X-linked central congenital hypothyroidism with late-onset testicular enlargement
    • central hypothyroidism and testicular enlargement
Homo sapiens (human)
DOID:12129
  • bulimia nervosa
  • Aliases:
    • hyperorexia nervosa
Homo sapiens (human)
DOID:8549
  • chronic ulcer of skin
  • Aliases:
    • Callous ulcer
    • Indolent ulcer
Homo sapiens (human)
DOID:11934
  • head and neck cancer
  • Aliases:
    • head and neck neoplasm
    • head and neck tumours
    • head/neck neoplasm
    • tumor of head and neck
Homo sapiens (human)
DOID:0080144
  • childhood acute lymphocytic leukemia
  • Aliases:
    • Childhood Acute Lymphoblastic Leukemia
Homo sapiens (human)
DOID:4090
  • agnosia
  • Aliases:
    • Dyspraxia
    • Dyspraxia syndrome
Homo sapiens (human)
DOID:14555
  • Foster-Kennedy syndrome
Homo sapiens (human)
DOID:683
  • motor neuritis
  • Aliases:
    • peripheral motor neuropathy
Homo sapiens (human)
DOID:699
  • mitochondrial myopathy
  • Aliases:
    • mitochondrial cytopathy
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