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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 4301 - 4325 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:9955
  • hypoplastic left heart syndrome
Homo sapiens (human)
DOID:14264
  • benign neonatal seizures
  • Aliases:
    • benign familial neonatal seizures
    • benign neonatal convulsions
Homo sapiens (human)
DOID:0111188
  • myofibrillar myopathy 9
  • Aliases:
    • Edstrom myopathy
    • HIBM-ERF
    • HMERF
    • Hereditary inclusion body myopathy with early respiratory failure
    • MFM-titinopathy
    • MFM9
    • MPRM
    • Myofibrillar myopathy-titinopathy
    • autosomal dominant distal myopathy with early respiratory failure
    • hereditary myopathy with early respiratory failure
    • myofibrillar myopathy 9 with early respiratory failure
    • proximal myopathy with early respiratory muscle involvement
Homo sapiens (human)
DOID:0050719
  • cerebral folate receptor alpha deficiency
  • Aliases:
    • Neurodegeneration due to cerebral folate transport deficiency
Homo sapiens (human)
DOID:999
  • hypereosinophilic syndrome
  • Aliases:
    • Eosinophilic leukocytosis
    • eosinophilia
Homo sapiens (human)
DOID:288
  • endometriosis of uterus
  • Aliases:
    • Endometriosis interna
    • Endometriosis of myometrium
    • Endometriosis, myometrium
    • adenomyosis
    • uterine Adenomyosis
Homo sapiens (human)
DOID:4166
  • syphilis
  • Aliases:
    • syphilitic chancre
Homo sapiens (human)
DOID:0060587
  • Noonan syndrome 9
  • Aliases:
    • NS9
Homo sapiens (human)
DOID:0081126
  • DeSanto-Shinawi syndrome
  • Aliases:
    • Chromosome 10p12-p11 deletion syndrome
    • Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
    • Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
    • WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Homo sapiens (human)
DOID:5041
  • esophageal cancer
  • Aliases:
    • Ca lower third oesophagus
    • Ca middle third oesophagus
    • esophagus cancer
    • malignant neoplasm of distal third of esophagus
    • malignant neoplasm of lower third of oesophagus
    • malignant neoplasm of middle third of oesophagus
    • malignant neoplasm of proximal third of esophagus
    • malignant neoplasm of upper third esophagus
    • malignant tumor of Distal Third of esophagus
    • malignant tumor of Proximal Third of esophagus
    • malignant tumor of abdominal esophagus
    • malignant tumor of the middle Third of the esophagus
Homo sapiens (human)
DOID:0060801
  • MEHMO syndrome
  • Aliases:
    • MRXS20
    • MRXS25
    • X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
    • mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
    • syndromic X-linked mental retardation 20
    • syndromic X-linked mental retardation 25
Homo sapiens (human)
DOID:0112135
  • severe congenital neutropenia 8
  • Aliases:
    • SCN8
    • SDSL
    • Shwachman-Diamond syndrome-like
    • autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities
Homo sapiens (human)
DOID:0070341
  • neonatal-onset type II citrullinemia
  • Aliases:
    • neonatal-onset type 2 citrullinemia
Homo sapiens (human)
DOID:0070483
  • Watson syndrome
Homo sapiens (human)
DOID:0110375
  • retinitis pigmentosa 40
  • Aliases:
    • RP40
Homo sapiens (human)
DOID:4468
  • clear cell adenocarcinoma
  • Aliases:
    • Mesonephroid Clear cell carcinoma
    • Mesonephroma, malignant
    • Water-clear cell adenocarcinoma
    • Water-clear cell carcinoma
    • Wolffian duct neoplasm
    • malignant Mesonephroma
    • mesonephroma
Homo sapiens (human)
DOID:0050156
  • idiopathic pulmonary fibrosis
  • Aliases:
    • FIBROCYSTIC PULMONARY DYSPLASIA
    • IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL
    • cryptogenic fibrosing alveolitis
Homo sapiens (human)
DOID:0080944
  • familial Behcet-like autoinflammatory syndrome
  • Aliases:
    • A20 haploinsufficiency
Homo sapiens (human)
DOID:13366
  • Stiff-Person syndrome
  • Aliases:
    • Stiff-man syndrome
    • stiff man syndrome
Homo sapiens (human)
DOID:0080490
  • mucolipidosis type IV
Homo sapiens (human)
DOID:0111706
  • oblique facial clefting 1
  • Aliases:
    • Tessier number 4 facial cleft
Homo sapiens (human)
DOID:0050566
  • X-linked nonsyndromic deafness
  • Aliases:
    • X-linked deafness
Homo sapiens (human)
DOID:0110078
  • Leber congenital amaurosis 1
  • Aliases:
    • LCA1
    • amaurosis congenita of Leber I
Homo sapiens (human)
DOID:0060743
  • methylmalonic acidemia cblB type
  • Aliases:
    • methylmalonic aciduria cblB type
    • methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
Homo sapiens (human)
DOID:13133
  • HELLP syndrome
Homo sapiens (human)
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Last updated: December 9, 2024