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 5276 - 5300 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0050669
  • spastic cerebral palsy
Homo sapiens (human)
DOID:9274
  • hyperlysinemia
Homo sapiens (human)
DOID:0111254
  • glutaric acidemia I
  • Aliases:
    • GA1
    • glutaric academia type 1
    • glutaric aciduria 1
    • glutaric aciduria type I
    • glutaryl-coA dehydrogenase deficiency
    • glutaryl-coenzyme A dehydrogenase deficiency
Homo sapiens (human)
DOID:28
  • endocrine system disease
Homo sapiens (human)
DOID:12700
  • hyperprolactinemia
  • Aliases:
    • Chiari-Frommel syndrome
    • Pregnancy-related A-G syndrome
    • hyperprolactinaemia
Homo sapiens (human)
DOID:9212
  • pityriasis rubra pilaris
  • Aliases:
    • Devergie's disease
Homo sapiens (human)
DOID:12883
  • hypochondriasis
  • Aliases:
    • Hypochondria
    • Hypochondriacal disorder
    • hypochondriacal neurosis
Homo sapiens (human)
DOID:0112223
  • developmental and epileptic encephalopathy 89
  • Aliases:
    • DEE89
    • early infantile epileptic encephalopathy 89
Homo sapiens (human)
DOID:439
  • neuromuscular junction disease
Homo sapiens (human)
DOID:1827
  • idiopathic generalized epilepsy
  • Aliases:
    • Generalised epilepsy
Homo sapiens (human)
DOID:0111382
  • ischiocoxopodopatellar syndrome
  • Aliases:
    • SPS
    • Scott-Taor syndrome
    • congenital coxa vara, patella aplasia and tarsal synostosis
    • coxo-podo-patellar syndrome
    • coxopodipatellar syndrome
    • ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension
    • ischiopatellar dysplasia
    • patella aplasia, coxa vara, and tarsal synostosis
    • small patella syndrome
Homo sapiens (human)
DOID:4440
  • seminoma
  • Aliases:
    • Seminoma, Pure
Rattus norvegicus (Norway rat)
DOID:0081385
  • ataxia-telangiectasia-like disorder-2
  • Aliases:
    • PCNA-related progressive neurodegenerative photosensitivity syndrome
Rattus norvegicus (Norway rat)
DOID:3571
  • liver cancer
  • Aliases:
    • Ca liver - primary
    • Resectable malignant neoplasm of Liver
    • hepatic cancer
    • hepatic neoplasm
    • malignant hepato-biliary neoplasm
    • malignant neoplasm of liver
    • malignant neoplasm of liver, not specified as primary or secondary
    • malignant neoplasm of liver, primary
    • malignant tumor of liver
    • neoplasm of liver
    • non-resectable primary hepatic malignant neoplasm
    • primary liver cancer
    • primary malignant neoplasm of liver
    • resectable malignant neoplasm of the liver
Rattus norvegicus (Norway rat)
DOID:0080178
  • mucositis
Rattus norvegicus (Norway rat)
DOID:9427
  • hypertensive encephalopathy
Rattus norvegicus (Norway rat)
DOID:0090129
  • carnitine palmitoyltransferase I deficiency
  • Aliases:
    • CPT I deficiency
    • CPT1A deficiency
    • L-CPT1 deficiency
    • carnitine palmitoyl transferase 1A deficiency
    • carnitine palmitoyl transferase IA deficiency
    • hepatic CPT deficiency type I
    • hepatic carnitine palmitoyl transferase 1 deficiency
    • hepatic carnitine palmitoyl transferase I deficiency
Rattus norvegicus (Norway rat)
DOID:0050464
  • Farber lipogranulomatosis
  • Aliases:
    • Farber disease
    • N-laurylsphingosine deacylase deficiency
    • acid ceramidase deficiency
Homo sapiens (human)
DOID:0111458
  • galactose epimerase deficiency
  • Aliases:
    • GALE deficiency
    • GALE-D
    • UDP-galactose-4-epimerase deficiency
    • epimerase deficiency galactosemia
    • galactosemia III
    • galactosemia type 3
    • uridine diphosphate galactose-4-epimerase deficiency
Homo sapiens (human)
DOID:14264
  • benign neonatal seizures
  • Aliases:
    • benign familial neonatal seizures
    • benign neonatal convulsions
Homo sapiens (human)
DOID:0060169
  • benign familial infantile epilepsy
  • Aliases:
    • BFIC
    • BFIE
    • benign familial infantile convulsion
    • benign familial infantile seizures
Homo sapiens (human)
DOID:14777
  • benign familial neonatal epilepsy
  • Aliases:
    • familial neonatal seizures
Homo sapiens (human)
DOID:0110414
  • retinitis pigmentosa 3
  • Aliases:
    • RP3
Homo sapiens (human)
DOID:0111673
  • Saul-Wilson syndrome
  • Aliases:
    • SWILS
    • microcephalic osteodysplastic dysplasia, Saul-Wilson type
Homo sapiens (human)
DOID:0070262
  • congenital disorder of glycosylation type IIj
  • Aliases:
    • CDG IIj
    • CDG syndrome type IIj
    • CDG2J
    • CDGIIdj
    • COG4-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIj
    • Congenital disorder of glycosylation type 2j
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