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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 8901 - 8925 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0111457
  • STING-associated vasculopathy with onset in infancy
  • Aliases:
    • SAVI
Homo sapiens (human)
DOID:0050650
  • familial atrial fibrillation
  • Aliases:
    • ATFB
Homo sapiens (human)
DOID:0050566
  • X-linked nonsyndromic deafness
  • Aliases:
    • X-linked deafness
Homo sapiens (human)
DOID:2754
  • glycogen storage disease VI
  • Aliases:
    • Glycogen storage disease 6
    • Hers' disease
    • glycogen storage disease type VI
    • hepatic glycogen phosphorylase deficiency
    • hepatophosphorylase deficiency glycogenosis
Homo sapiens (human)
DOID:0090018
  • autosomal dominant familial periodic fever
  • Aliases:
    • FHF
    • FPF
    • TNF receptor associated periodic syndrome
    • TRAPS
    • familial Hibernian fever
    • hibernian fever
    • tumor necrosis factor receptor associated periodic syndrome
Homo sapiens (human)
DOID:0080625
  • severe congenital neutropenia 1
Homo sapiens (human)
DOID:0110371
  • retinitis pigmentosa 56
  • Aliases:
    • RP56
Homo sapiens (human)
DOID:0111998
  • immunodeficiency 66
  • Aliases:
    • IMD66
Homo sapiens (human)
DOID:3755
  • antithrombin III deficiency
  • Aliases:
    • AT III deficiency
    • hereditary thrombophilia due to congenital antithrombin deficiency
Homo sapiens (human)
DOID:0050883
  • infantile cerebellar-retinal degeneration
Homo sapiens (human)
DOID:0050850
  • diabetic encephalopathy
Homo sapiens (human)
DOID:10230
  • aortic atherosclerosis
  • Aliases:
    • Atherosclerosis of aorta
Homo sapiens (human)
DOID:0070117
  • Meckel syndrome 3
  • Aliases:
    • MKS3
    • Meckel-Gruber syndrome, type 3
Homo sapiens (human)
DOID:0080110
  • contractures, pterygia, and spondylocarpotarsal fusion syndrome
  • Aliases:
    • multiple pterygium syndrome
Homo sapiens (human)
DOID:0080462
  • developmental and epileptic encephalopathy 7
  • Aliases:
    • KCNQ2-related epileptic encephalopathy
    • KCNQ2-related neonatal epileptic encephalopathy
    • early infantile epileptic encephalopathy 7
Homo sapiens (human)
DOID:1115
  • sarcoma
  • Aliases:
    • connective and soft tissue neoplasm
    • tumor of soft tissue and skeleton
Homo sapiens (human)
DOID:11476
  • osteoporosis
Homo sapiens (human)
DOID:0081213
  • autosomal recessive intellectual developmental disorder 50
Homo sapiens (human)
DOID:0050680
  • Boomerang dysplasia
Homo sapiens (human)
DOID:0111611
  • autosomal recessive spinocerebellar ataxia 4
  • Aliases:
    • SCA24
    • SCAR4
    • SCASI
    • autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
    • spinocerebellar ataxia 24
    • spinocerebellar ataxia with saccadic intrusions
Homo sapiens (human)
DOID:12270
  • coloboma
  • Aliases:
    • coloboma of eye
    • coloboma of macula
    • congenital ocular coloboma
Homo sapiens (human)
DOID:0081398
  • holoprosencephaly 12
  • Aliases:
    • holoprosencephaly-12 with or without pancreatic agenesis
Homo sapiens (human)
DOID:0070291
  • primary autosomal recessive microcephaly 4
  • Aliases:
    • MCPH4
Homo sapiens (human)
DOID:231
  • motor neuron disease
Homo sapiens (human)
DOID:0112163
  • spermatogenic failure 45
  • Aliases:
    • SPGF45
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