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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 15551 - 15575 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080567
  • congenital disorder of glycosylation Ip
  • Aliases:
    • congenital disorder of glycosylation 1p
Saccharomyces cerevisiae S288C
DOID:0070264
  • congenital disorder of glycosylation type IIl
  • Aliases:
    • CDG IIl
    • CDG syndrome type IIL
    • CDG2L
    • CDGIIdl
    • COG6-CGD
    • Congenital disorder of glycosylation type 2l
Saccharomyces cerevisiae S288C
DOID:0110409
  • retinitis pigmentosa 46
  • Aliases:
    • RP46
Saccharomyces cerevisiae S288C
DOID:1391
  • Norum disease
  • Aliases:
    • LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
    • lecithin acyltransferase deficiency
Saccharomyces cerevisiae S288C
DOID:0112372
  • Coffin-Siris syndrome 11
  • Aliases:
    • CSS11
Saccharomyces cerevisiae S288C
DOID:1925
  • Coffin-Siris syndrome
  • Aliases:
    • Dwarfism-Onychodysplasia
    • Fifth Digit Syndrome
    • Short Stature-Onychodysplasia.
Saccharomyces cerevisiae S288C
DOID:0050577
  • cranioectodermal dysplasia
  • Aliases:
    • Levin syndrome
    • Sensenbrenner syndrome
Saccharomyces cerevisiae S288C
DOID:0080559
  • congenital disorder of glycosylation Ig
  • Aliases:
    • ALG12-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1g
Saccharomyces cerevisiae S288C
DOID:0070403
  • hypomyelinating leukodystrophy 26
  • Aliases:
    • HLD26
Saccharomyces cerevisiae S288C
DOID:0050424
  • familial adenomatous polyposis
  • Aliases:
    • adenomatous polyposis of the colon
Saccharomyces cerevisiae S288C
DOID:3429
  • inclusion body myositis
Saccharomyces cerevisiae S288C
DOID:0060807
  • syndromic X-linked intellectual disability Najm type
  • Aliases:
    • MICPCH
    • X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
    • mental retardation and microcephaly with pontine and cerebellar hypoplasia
Saccharomyces cerevisiae S288C
DOID:0050628
  • advanced sleep phase syndrome
  • Aliases:
    • familial advanced sleep-phase syndrome
Saccharomyces cerevisiae S288C
DOID:0110012
  • advanced sleep phase syndrome 2
  • Aliases:
    • FASPS2
    • familial advanced sleep phase syndrome 2
Saccharomyces cerevisiae S288C
DOID:0060539
  • Hermansky-Pudlak syndrome 1
Saccharomyces cerevisiae S288C
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Saccharomyces cerevisiae S288C
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Saccharomyces cerevisiae S288C
DOID:0060713
  • autosomal recessive congenital ichthyosis 4B
  • Aliases:
    • ARCI4B
    • harlequin ichthyosis
    • harlequin type ichthyosis congenita
    • harlequin type ichthyosis fetalis
Saccharomyces cerevisiae S288C
DOID:10881
  • hand, foot and mouth disease
  • Aliases:
    • Vesicular stomatitis and exanthem
Saccharomyces cerevisiae S288C
DOID:0060224
  • atrial fibrillation
  • Aliases:
    • A-fib
    • AFib
Saccharomyces cerevisiae S288C
DOID:0060062
  • familial juvenile hyperuricemic nephropathy
Saccharomyces cerevisiae S288C
DOID:10762
  • portal hypertension
Saccharomyces cerevisiae S288C
DOID:0080827
  • human cytomegalovirus infection
Saccharomyces cerevisiae S288C
DOID:446
  • primary hyperaldosteronism
  • Aliases:
    • Cushing syndrome
    • Cushing's syndrome
    • hyperaldosteronism
Saccharomyces cerevisiae S288C
DOID:14503
  • neuronal ceroid lipofuscinosis
  • Aliases:
    • hereditary ceroid lipofuscinosis
Saccharomyces cerevisiae S288C
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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