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 8651 - 8675 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0050774
  • rapadilino syndrome
Homo sapiens (human)
DOID:5812
  • MHC class II deficiency
  • Aliases:
    • BLSII
    • SCID due to absent class II HLA antigens
    • bare lymphocyte syndrome type II
Homo sapiens (human)
DOID:0060738
  • junctional epidermolysis bullosa non-Herlitz type
  • Aliases:
    • GABEB
    • JEB-nH gen
    • JEN-nH
    • generalized atrophic benign epidermolysis bullosa
    • generalized junctional epidermolysis bullosa, non-Herlitz type
    • junctional epidermolysis bullosa generalisata mitis
    • junctional epidermolysis bullosa, Disentis type
Homo sapiens (human)
DOID:10762
  • portal hypertension
Homo sapiens (human)
DOID:0110640
  • congenital muscular dystrophy due to LMNA mutation
  • Aliases:
    • L-CMD
    • LMNA-related congenital muscular dystrophy
    • congenital muscular dystrophy LMNA-related
Homo sapiens (human)
DOID:2152
  • ovary epithelial cancer
  • Aliases:
    • Ovarian Surface epithelial-Stromal tumor
Homo sapiens (human)
DOID:0050792
  • multiple cutaneous and mucosal venous malformations
  • Aliases:
    • VMCM
    • cutaneomucosal venous malformation
    • mucocutaneous venous malformations
Homo sapiens (human)
DOID:1319
  • brain cancer
  • Aliases:
    • BT - Brain tumour
    • adult brain tumor
    • adult malignant brain neoplasm
    • brain neoplasm
    • brain neoplasm, adult
    • malignant brain tumour
    • malignant primary brain neoplasm
    • malignant primary brain tumor
    • malignant tumor of Brain
    • malignant tumor of adult brain
    • neoplasm of brain
    • primary brain neoplasm
    • primary brain tumor
    • primary malignant neoplasm of brain
    • tumor of the Brain
Homo sapiens (human)
DOID:3082
  • interstitial lung disease
  • Aliases:
    • ILD
Homo sapiens (human)
DOID:5572
  • Beckwith-Wiedemann syndrome
Homo sapiens (human)
DOID:0110066
  • amelogenesis imperfecta type 1G
  • Aliases:
    • AI1G
    • AIGFS
    • ERS
    • amelogenesis imperfecta and gingival fibromatosis syndrome
    • amelogenesis imperfecta hypoplastic with nephrocalcinosis
    • amelogenesis imperfecta type IG
    • enamel-renal syndrome
    • enamel-renal-gingival syndrome
Homo sapiens (human)
DOID:0050809
  • mucopolysaccharidosis IX
Homo sapiens (human)
DOID:0080548
  • Noonan syndrome with multiple lentigines 1
  • Aliases:
    • LEOPARD syndrome 1
Homo sapiens (human)
DOID:3429
  • inclusion body myositis
Homo sapiens (human)
DOID:0110365
  • retinitis pigmentosa 28
  • Aliases:
    • RP28
Homo sapiens (human)
DOID:0080354
  • Phelan-McDermid syndrome
  • Aliases:
    • 22q13.3 deletion syndrome
    • monosomy 22q13 syndrome
Homo sapiens (human)
DOID:0080630
  • B-lymphoblastic leukemia/lymphoma
  • Aliases:
    • B lymphoblastic leukemia/lymphoma
    • B-ALL
    • precursor B lymphoblastic lymphoma/leukemia
Homo sapiens (human)
DOID:0080460
  • developmental and epileptic encephalopathy 34
  • Aliases:
    • DEE34
    • early infantile epileptic encephalopathy 34
Homo sapiens (human)
DOID:3426
  • vestibular disease
  • Aliases:
    • Vertigo, vestibular disorder
Homo sapiens (human)
DOID:1289
  • neurodegenerative disease
  • Aliases:
    • degenerative disease
Homo sapiens (human)
DOID:13252
  • mesenteric vascular occlusion
Homo sapiens (human)
DOID:13593
  • eclampsia
  • Aliases:
    • Eclampsia in puerperium
    • Eclampsia, postpartum
    • Postpartum eclampsia
Homo sapiens (human)
DOID:0070137
  • autosomal recessive cutis laxa type IIB
  • Aliases:
    • ARCL2, progeroid type
    • ARCL2B
Homo sapiens (human)
DOID:655
  • inherited metabolic disorder
  • Aliases:
    • Inborn Errors of Metabolism
    • Metabolic hereditary disorder
    • inborn metabolism disorder
Homo sapiens (human)
DOID:0070046
  • Coffin-Siris syndrome 4
  • Aliases:
    • CSS4
    • MRD16
    • autosomal dominant mental retardation 16
Homo sapiens (human)

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