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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 2476 - 2500 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0110916
  • hereditary spherocytosis type 1
  • Aliases:
    • HS1
    • SPH1
    • hereditary spherocytosis 1
Homo sapiens (human)
DOID:0110915
  • childhood hypophosphatasia
Homo sapiens (human)
DOID:0110914
  • infantile hypophosphatasia
  • Aliases:
    • Hops
    • phosphoethanolaminuria
Homo sapiens (human)
DOID:0110913
  • adult hypophosphatasia
  • Aliases:
    • mild hypophosphatasia
Homo sapiens (human)
DOID:0110912
  • leukocyte adhesion deficiency 3
  • Aliases:
    • IADD
    • LAD1 variant
    • LAD1V
    • LAD3
    • integrin activation deficiency disease
    • leukocyte adhesion deficiency 1 variant
    • leukocyte adhesion deficiency type III
Homo sapiens (human)
DOID:0110910
  • leukocyte adhesion deficiency 1
  • Aliases:
    • LAD1
    • LFA1 immunodeficiency
    • leukocyte adhesion deficiency type I
    • lymphocyte function-associated antigen 1 immunodeficiency
Homo sapiens (human)
DOID:0110909
  • inflammatory bowel disease 25
  • Aliases:
    • IBD25
    • early onset autosomal recessive inflammatory bowel disease 25
Homo sapiens (human)
DOID:0110899
  • inflammatory bowel disease 28
  • Aliases:
    • IBD28
    • early onset autosomal recessive inflammatory bowel disease 28
Homo sapiens (human)
DOID:0110896
  • inflammatory bowel disease 16
  • Aliases:
    • IBD16
Homo sapiens (human)
DOID:0110895
  • inflammatory bowel disease 14
  • Aliases:
    • IBD14
Homo sapiens (human)
DOID:0110893
  • inflammatory bowel disease 13
  • Aliases:
    • IBD13
Homo sapiens (human)
DOID:0110892
  • inflammatory bowel disease 1
  • Aliases:
    • IBD1
Homo sapiens (human)
DOID:0110887
  • inflammatory bowel disease 12
  • Aliases:
    • IBD12
Homo sapiens (human)
DOID:0110883
  • inflammatory bowel disease 17
  • Aliases:
    • IBD17
Homo sapiens (human)
DOID:0110880
  • holoprosencephaly 4
  • Aliases:
    • HPE4
Homo sapiens (human)
DOID:0110877
  • holoprosencephaly 11
  • Aliases:
    • HPE11
Homo sapiens (human)
DOID:0110876
  • holoprosencephaly 7
  • Aliases:
    • HPE7
Homo sapiens (human)
DOID:0110875
  • holoprosencephaly 3
  • Aliases:
    • HLP3
    • HPE3
Homo sapiens (human)
DOID:0110873
  • holoprosencephaly 9
  • Aliases:
    • HPE9
    • holoprosencephaly with microphthalmia and first branchial arch anomalies
    • pituitary anomalies with holoprosencephaly-like features
Homo sapiens (human)
DOID:0110871
  • congenital stationary night blindness 2A
  • Aliases:
    • congenital stationary night blindness 2A X-linked
Homo sapiens (human)
DOID:0110870
  • congenital stationary night blindness 1A
  • Aliases:
    • CSNB1A
    • NBMI
    • complete CSNB X-linked
    • congenital stationary night blindness 1A X-linked
    • congenital stationary night blindness with myopia
    • hemeralopia-myopia
    • myopia-night blindness
Homo sapiens (human)
DOID:0110869
  • congenital stationary night blindness 1E
  • Aliases:
    • CSNB1E
    • congenital stationary night blindness 1E autosomal recessive
Homo sapiens (human)
DOID:0110868
  • congenital stationary night blindness 1D
  • Aliases:
    • CSNB1D
    • congenital stationary night blindness 1D autosomal recessive
Homo sapiens (human)
DOID:0110867
  • congenital stationary night blindness 1C
  • Aliases:
    • CSNB1C
    • congenital stationary night blindness 1C autosomal recessive
Homo sapiens (human)
DOID:0110865
  • congenital stationary night blindness 1B
  • Aliases:
    • CSNB1B
    • autosomal recessive complete congenital stationary night blindness
    • congenital stationary night blindness 1B autosomal recessive
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