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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 8701 - 8725 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0112295
  • spondylometaphyseal dysplasia
Rattus norvegicus (Norway rat)
DOID:0080178
  • mucositis
Rattus norvegicus (Norway rat)
DOID:0081385
  • ataxia-telangiectasia-like disorder-2
  • Aliases:
    • PCNA-related progressive neurodegenerative photosensitivity syndrome
Rattus norvegicus (Norway rat)
DOID:0111997
  • immunodeficiency 63
  • Aliases:
    • IL2RB deficiency
    • IMD63
    • immunodeficiency 63 with lymphoproliferation and autoimmunity
Rattus norvegicus (Norway rat)
DOID:0080110
  • contractures, pterygia, and spondylocarpotarsal fusion syndrome
  • Aliases:
    • multiple pterygium syndrome
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:0110774
  • hereditary spastic paraplegia 23
  • Aliases:
    • Lison syndrome
    • SPG23
    • Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
    • spastic paraplegia 23
    • spastic paraplegia with pigmentary abnormalities
Homo sapiens (human)
DOID:0080206
  • CAKUT1
  • Aliases:
    • Congenital anomalies of the kidney and urinary tract 1
Homo sapiens (human)
DOID:0060372
  • Parkinson's disease 15
  • Aliases:
    • Parkinsonian-pyramidal syndrome
    • autosomal recessive early-onset Parkinson disease 15
    • autosomal recessive early-onset Parkinson's disease 15
    • pallidopyramidal syndrome
Homo sapiens (human)
DOID:0110065
  • amelogenesis imperfecta type 1F
  • Aliases:
    • AI1F
    • amelogenesis imperfecta hypoplastic type IF
    • amelogenesis imperfecta type IF
Homo sapiens (human)
DOID:0060891
  • Parkinson's disease 19A
  • Aliases:
    • juvenile onset Parkinson disease 19A
    • juvenile onset Parkinson's disease 19A
Homo sapiens (human)
DOID:13276
  • Mycoplasma pneumoniae pneumonia
  • Aliases:
    • Mycoplasma pneumonia
    • Mycoplasmal pneumonia
    • Pneumonia due to Eaton's agent
    • Pneumonia due to Mycoplasma pneumoniae
    • Pneumonia due to Mycoplasma pneumoniae (disorder)
    • cold agglutinin positive pneumonia
Homo sapiens (human)
DOID:10587
  • Krabbe disease
  • Aliases:
    • Diffuse globoid body sclerosis
    • GLOBOID CELL LEUKOENCEPHALOPATHY
    • Galactosylceramide beta-galactosidase deficiency
    • Krabbe's disease
    • Krabbe's leukodystrophy
    • beta galactocerebrosidase deficiency
    • globoid cell leukodystrophy
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:0060286
  • combined oxidative phosphorylation deficiency
Homo sapiens (human)
DOID:0111480
  • combined oxidative phosphorylation deficiency 10
  • Aliases:
    • COXPD10
    • infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis
    • mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Homo sapiens (human)
DOID:0110777
  • hereditary spastic paraplegia 26
  • Aliases:
    • GM2 synthase deficiency
    • SPG26
    • autosomal recessive spastic paraplegia 26
    • autosomal recessive spastic paraplegia type 26
Homo sapiens (human)
DOID:2914
  • immune system disease
Homo sapiens (human)
DOID:0080505
  • Cornelia de Lange syndrome 1
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)
DOID:14695
  • galactokinase deficiency
  • Aliases:
    • Galactosemia II
Homo sapiens (human)
DOID:0110490
  • autosomal recessive nonsyndromic deafness 31
  • Aliases:
    • DFNB31
    • autosomal recessive deafness 31
Homo sapiens (human)
DOID:0110840
  • Usher syndrome type 2D
  • Aliases:
    • USH2D
    • Usher syndrome type IID
Homo sapiens (human)
DOID:12804
  • mucopolysaccharidosis IV
  • Aliases:
    • Mucopolysaccharidosis, MPS-IV
    • deficiency of N-acetylgalactosamine-6-sulphatase
    • deficiency of chondroitinsulphatase
    • galactosamine-6-sulfatase deficiency
Homo sapiens (human)
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Last updated: December 9, 2024