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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 11901 - 11925 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0111729
  • familial episodic pain syndrome 1
  • Aliases:
    • FEPS1
Homo sapiens (human)
DOID:0111744
  • cerebellar ataxia type 41
  • Aliases:
    • SCA41
Homo sapiens (human)
DOID:0111129
  • focal segmental glomerulosclerosis 2
  • Aliases:
    • FSGS2
Homo sapiens (human)
DOID:0110867
  • congenital stationary night blindness 1C
  • Aliases:
    • CSNB1C
    • congenital stationary night blindness 1C autosomal recessive
Homo sapiens (human)
DOID:0080766
  • erythrokeratodermia variabilis et progressiva 6
Homo sapiens (human)
DOID:0111076
  • progressive familial heart block type IB
  • Aliases:
    • PFHB1B
Homo sapiens (human)
DOID:0060883
  • intestinal hypomagnesemia 1
  • Aliases:
    • HOMG1
    • hypomagnesemia caused by selective magnesium malabsorption
    • hypomagnesemia intestinal type 1
    • hypomagnesemic tetany
    • intestinal hypomagnesemia with secondary hypocalcemia
    • primary hypomagnesemia with secondary hypocalcemia
Homo sapiens (human)
DOID:0080376
  • trichorhinophalangeal syndrome type III
  • Aliases:
    • trichorhinophalangeal syndrome type 3
Homo sapiens (human)
DOID:14743
  • trichorhinophalangeal syndrome type I
  • Aliases:
    • trichorhinophalangeal syndrome type 1
    • type I trichorhinophalangeal syndrome
Homo sapiens (human)
DOID:0112166
  • autosomal dominant nonsyndromic deafness 75
  • Aliases:
    • DFNA75
Homo sapiens (human)
DOID:0081098
  • autosomal recessive intellectual developmental disorder 13
Saccharomyces cerevisiae S288C
DOID:0080324
  • tuberous sclerosis 1
Homo sapiens (human)
DOID:0060648
  • anterior segment dysgenesis
  • Aliases:
    • anterior segment developmental anomaly
    • corneal opacification and other ocular anomalies
    • sclerocornea with other ocular anomalies
Homo sapiens (human)
DOID:3317
  • hepatic angiomyolipoma
Homo sapiens (human)
DOID:0112329
  • pontocerebellar hypoplasia type 2F
  • Aliases:
    • PCH2F
Homo sapiens (human)
DOID:0070123
  • congenital nongoitrous hypothyroidism 4
  • Aliases:
    • CHNG4
    • isolated thyrotropin deficiency
Homo sapiens (human)
DOID:0081101
  • nonautoimmune hyperthyroidism
  • Aliases:
    • Congenital nonautoimmune hyperthyroidism
Homo sapiens (human)
DOID:0081102
  • familial gestational hyperthyroidism
Homo sapiens (human)
DOID:0112024
  • non-syndromic X-linked intellectual disability 58
  • Aliases:
    • MRX58
    • X-linked mental retardation 58
Homo sapiens (human)
DOID:0111662
  • ectodermal dysplasia 14
  • Aliases:
    • ECTN14
    • ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Homo sapiens (human)
DOID:0110540
  • autosomal recessive nonsyndromic deafness 98
  • Aliases:
    • DFNB98
    • autosomal recessive deafness 98
Homo sapiens (human)
DOID:0050961
  • spinocerebellar ataxia type 11
Homo sapiens (human)
DOID:0111927
  • spermatogenic failure 37
  • Aliases:
    • SPGF37
Homo sapiens (human)
DOID:0111923
  • spermatogenic failure 42
  • Aliases:
    • SPGF42
Homo sapiens (human)
DOID:14671
  • multiple intestinal atresia
  • Aliases:
    • GIDID
    • Multiple gastrointestinal atresias
    • familial intestinal polyatresia syndrome
    • gastrointestinal defects and immunodeficiency syndrome
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