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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 10826 - 10850 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:12259
  • hemophilia B
  • Aliases:
    • Congenital factor IX deficiency
    • Congenital factor IX disorder
    • deficiency, functional factor IX
    • factor IX deficiency
Homo sapiens (human)
DOID:2615
  • papilloma
  • Aliases:
    • papillomatosis
Homo sapiens (human)
DOID:0112209
  • developmental and epileptic encephalopathy 73
  • Aliases:
    • DEE73
    • early infantile epileptic encephalopathy 73
Homo sapiens (human)
DOID:0080260
  • autosomal recessive spinocerebellar ataxia 26
  • Aliases:
    • SCAR26
Homo sapiens (human)
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Homo sapiens (human)
DOID:0070204
  • familial partial lipodystrophy type 3
  • Aliases:
    • FPLD3
    • PPARG-related FPLD
    • PPARG-related familial partial lipodystrophy
    • familial partial lipodystrophy associated with PPARG mutations
Homo sapiens (human)
DOID:3669
  • intermittent claudication
  • Aliases:
    • Charcot's syndrome
Homo sapiens (human)
DOID:0060736
  • epidermolysis bullosa simplex Ogna type
  • Aliases:
    • EBS-O
    • EBS-Og
    • EBSOG
Homo sapiens (human)
DOID:0070282
  • primary autosomal recessive microcephaly 8
  • Aliases:
    • MCPH8
Homo sapiens (human)
DOID:0070271
  • Lynch syndrome 1
  • Aliases:
    • FCC1
    • HNPCC1
    • familial nonpolyposis colon cancer type 1
    • hereditary nonpolyposis colorectal cancer type 1
Homo sapiens (human)
DOID:0060327
  • omphalocele
  • Aliases:
    • omphalocoele
Homo sapiens (human)
DOID:0070129
  • autosomal recessive cutis laxa type IID
  • Aliases:
    • ARCL2D
Homo sapiens (human)
DOID:0110969
  • brachydactyly type B1
  • Aliases:
    • BDB1
Homo sapiens (human)
DOID:0060286
  • combined oxidative phosphorylation deficiency
Homo sapiens (human)
DOID:0080620
  • familial glucocorticoid deficiency
Homo sapiens (human)
DOID:5212
  • congenital disorder of glycosylation
  • Aliases:
    • carbohydrate-deficient glycoprotein syndrome
Homo sapiens (human)
DOID:0080107
  • microcephaly and chorioretinopathy 3
Homo sapiens (human)
DOID:0081294
  • neuronal intranuclear inclusion disease
Homo sapiens (human)
DOID:0111634
  • autosomal recessive nonsyndromic deafness 99
  • Aliases:
    • DFNB99
    • autosomal recessive deafness 99
Homo sapiens (human)
DOID:0050689
  • brachydactyly-syndactyly syndrome
Homo sapiens (human)
DOID:4231
  • histiocytoma
Homo sapiens (human)
DOID:9455
  • lipid storage disease
  • Aliases:
    • Lipoid storage diseas
    • inborn lipid storage disorder
    • lipoidosis
Homo sapiens (human)
DOID:0110810
  • hereditary spastic paraplegia 5A
  • Aliases:
    • SPG5A
    • autosomal recessive spastic paraplegia 5A
    • autosomal recessive spastic paraplegia type 5A
Homo sapiens (human)
DOID:14080
  • glucocorticoid-remediable aldosteronism
  • Aliases:
    • GRA
    • GRS
    • familial hyperaldosteronism type I
    • glucocorticoid-suppressible hyperaldosteronism
Homo sapiens (human)
DOID:0110555
  • autosomal dominant nonsyndromic deafness 25
  • Aliases:
    • DFNA25
    • autosomal dominant deafness 25
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