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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 9226 - 9250 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0080505
  • Cornelia de Lange syndrome 1
Homo sapiens (human)
DOID:0080620
  • familial glucocorticoid deficiency
Homo sapiens (human)
DOID:0080862
  • primary ovarian insufficiency 5
Homo sapiens (human)
DOID:0050678
  • Blau syndrome
  • Aliases:
    • ARTHROCUTANEOUVEAL GRANULOMATOSIS
    • BLAUS
    • Jabs syndrome
Homo sapiens (human)
DOID:0110892
  • inflammatory bowel disease 1
  • Aliases:
    • IBD1
Homo sapiens (human)
DOID:0080787
  • proximal symphalangism 1
Homo sapiens (human)
DOID:0050788
  • proximal symphalangism
  • Aliases:
    • Cushing's symphalangism
Homo sapiens (human)
DOID:0050789
  • tarsal-carpal coalition syndrome
Homo sapiens (human)
DOID:0110975
  • brachydactyly type B2
  • Aliases:
    • BDB2
Homo sapiens (human)
DOID:0060817
  • syndromic X-linked intellectual disability 34
  • Aliases:
    • MRXS34
    • MRXSML
    • macrocephaly-intellectual disability-left ventricular non compaction syndrome
    • mental retardation, X-linked, syndromic 34
    • syndromic X-linked mental retardation Mircsof-Langouet type
Homo sapiens (human)
DOID:0050983
  • spinocerebellar ataxia type 36
Homo sapiens (human)
DOID:12935
  • alcoholic cardiomyopathy
  • Aliases:
    • Alcohol-induced heart muscle disease
    • Dilated cardiomyopathy secondary to alcohol
Homo sapiens (human)
DOID:12638
  • hypertrophic pyloric stenosis
  • Aliases:
    • congenital hypertrophic pyloric stenosis
    • congenital or infantile stricture of pylorus
Homo sapiens (human)
DOID:9220
  • central sleep apnea
  • Aliases:
    • primary central sleep apnea
Homo sapiens (human)
DOID:1272
  • telangiectasis
  • Aliases:
    • telangiectasia
Homo sapiens (human)
DOID:654
  • overnutrition
Homo sapiens (human)
DOID:4621
  • holoprosencephaly
  • Aliases:
    • Holoprosencephaly sequence
Homo sapiens (human)
DOID:2736
  • Hajdu-Cheney syndrome
  • Aliases:
    • Cheney syndrome
    • HJCYS
    • SFPKS
    • acroosteolysis with osteoporosis and changes in skull and mandible
    • arthrodentoosteodysplasia
    • serpentine fibula-polycystic kidney syndrome
Homo sapiens (human)
DOID:0080109
  • infantile myofibromatosis
  • Aliases:
    • lipofibromatosis
Homo sapiens (human)
DOID:0111343
  • lateral meningocele syndrome
  • Aliases:
    • Lehman syndrome
Homo sapiens (human)
DOID:0111035
  • CADASIL 1
  • Aliases:
    • autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1
Homo sapiens (human)
DOID:14504
  • Niemann-Pick disease
  • Aliases:
    • Sphingomyelinase Deficiency Disease
    • lipoid histiocytosis
    • sphingomyelin lipidosis
Homo sapiens (human)
DOID:0070113
  • Niemann-Pick disease type C1
  • Aliases:
    • NPC1
Homo sapiens (human)
DOID:0070114
  • Niemann-Pick disease type C2
  • Aliases:
    • NPC2
Homo sapiens (human)
DOID:12712
  • nephronophthisis
  • Aliases:
    • medullary cystic disease
    • medullary cystic kidney
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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