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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 4026 - 4050 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0080675
  • Stickler syndrome 2
Rattus norvegicus (Norway rat)
DOID:0110334
  • osteogenesis imperfecta type 1
  • Aliases:
    • OI1
    • osteogenesis imperfecta type I
Rattus norvegicus (Norway rat)
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Rattus norvegicus (Norway rat)
DOID:0060892
  • late onset Parkinson's disease
  • Aliases:
    • late onset Parkinson disease
Rattus norvegicus (Norway rat)
DOID:0050802
  • Ehlers-Danlos syndrome spondylodysplastic type 2
  • Aliases:
    • EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
    • Ehlers-Danlos syndrome progeroid type
Rattus norvegicus (Norway rat)
DOID:10376
  • amblyopia
  • Aliases:
    • lazy eye
Rattus norvegicus (Norway rat)
DOID:0112127
  • HRPT-related hyperuricemia
  • Aliases:
    • HPRT deficiency, grade I
    • HPRT partial deficiency
    • HPRT-related gout
    • HPRT-related hyperuricemia
    • HPRT1 partial deficiency
    • Kelley-Seegmiller syndrome
    • hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
    • hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
    • hypoxanthine guanine phosphoribosyltransferase partial deficiency
Rattus norvegicus (Norway rat)
DOID:0110175
  • Charcot-Marie-Tooth disease axonal type 2O
  • Aliases:
    • Charcot-Marie-Tooth neuropathy axonal type 2O
    • autosomal dominant Charcot-Marie-Tooth disease type 2O
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2O
Rattus norvegicus (Norway rat)
DOID:0050811
  • congenital adrenal hyperplasia
  • Aliases:
    • adrenal hyperplasia 1
    • congenital lipoid adrenal hyperplasia
    • lipoid CAH
Rattus norvegicus (Norway rat)
DOID:0112318
  • Schindler disease type 1
  • Aliases:
    • NAGA deficiency type 1
    • alpha-N-acetylgalactosaminidase deficiency type 1
Rattus norvegicus (Norway rat)
DOID:0111253
  • neurofibromatosis 1
  • Aliases:
    • NF1
    • Peripheral Neurofibromatosis
    • Recklinghausen's neurofibromatosis
    • neurofibromatosis type I
    • von Recklinghausen Disease
Rattus norvegicus (Norway rat)
DOID:11984
  • hypertrophic cardiomyopathy
  • Aliases:
    • hypertrophic obstructive cardiomyopathy
Rattus norvegicus (Norway rat)
DOID:0111364
  • Alzheimer's disease 9
  • Aliases:
    • AD9
    • Alzheimer's disease 9, late onset
Rattus norvegicus (Norway rat)
DOID:0080560
  • congenital disorder of glycosylation Ih
  • Aliases:
    • congenital disorder of glycosylation 1h
Rattus norvegicus (Norway rat)
DOID:0060227
  • Adams-Oliver syndrome
  • Aliases:
    • Adams Oliver syndrome
Rattus norvegicus (Norway rat)
DOID:6000
  • congestive heart failure
  • Aliases:
    • CHF
    • Cardiac Failure Congestive
    • Congestive heart disease
    • Weak heart
Rattus norvegicus (Norway rat)
DOID:13619
  • extrahepatic cholestasis
  • Aliases:
    • extrahepatic biliary Stasis
    • extrahepatic obstructive biliary disease
Rattus norvegicus (Norway rat)
DOID:0060735
  • epidermolysis bullosa simplex Dowling-Meara type
  • Aliases:
    • EBS-gen sev
    • EBSDM
    • epidermolysis bullosa herpetiformis Dowling-Meara type
    • epidermolysis bullosa simplex, herpetiformis
    • generalized severe epidermolysis bullosa simplex
Rattus norvegicus (Norway rat)
DOID:0080286
  • spinocerebellar ataxia 44
Rattus norvegicus (Norway rat)
DOID:0080208
  • metabolic dysfunction-associated steatotic liver disease
  • Aliases:
    • MAFLD
    • MASLD
    • NAFLD
    • metabolic dysfunction-associated fatty liver disease
    • metabolic dysfunction-related steatotic liver disease
    • metabolic-associated fatty liver disease
    • non-alcoholic fatty liver disease
    • nonalcoholic fatty liver disease
Rattus norvegicus (Norway rat)
DOID:0090083
  • hypogonadotropic hypogonadism 2 with or without anosmia
Rattus norvegicus (Norway rat)
DOID:106
  • pleural tuberculosis
  • Aliases:
    • Pearly disease
    • Tuberculosis of pleura
    • Tuberculous pleurisy
    • Tuberculous pleuritis
    • tuberculous pleurisy in primary progressive tuberculosis
Rattus norvegicus (Norway rat)
DOID:8029
  • sporadic breast cancer
Rattus norvegicus (Norway rat)
DOID:10887
  • lepromatous leprosy
  • Aliases:
    • type L leprosy
Rattus norvegicus (Norway rat)
DOID:9521
  • Laron syndrome
  • Aliases:
    • Laron-type isolated somatotropin defect
Rattus norvegicus (Norway rat)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024