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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 51 - 75 of 4115 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0050471
  • Carney complex
  • Aliases:
    • Carney Complex, Type 1
    • Carney Complex, Type 2
    • Carney Syndrome
    • Carney complex variant
    • LAMB Syndrome
    • NAME Syndrome
Homo sapiens (human)
DOID:0050473
  • Alstrom syndrome
Homo sapiens (human)
DOID:0050475
  • Weill-Marchesani syndrome
  • Aliases:
    • GEMSS syndrome
    • Marchesani-Weill Syndrome
    • Mesodermal Dysmorphodystrophy, Congenital
    • Spherophakia Brachymorphia Syndrome
    • congenital mesodermal dystrophy
Homo sapiens (human)
DOID:0050477
  • Liddle syndrome
  • Aliases:
    • Liddle's syndrome
    • Pseudoaldosteronism
Homo sapiens (human)
DOID:0050489
  • multinodular goiter
Homo sapiens (human)
DOID:0050523
  • adult T-cell leukemia/lymphoma
  • Aliases:
    • ATLL
    • Adult T-cell leukemia/lymphoma (HTLV-1 positive)
    • adult T-cell leukemia
Homo sapiens (human)
DOID:0050524
  • maturity-onset diabetes of the young
  • Aliases:
    • MODY
    • Mason-type diabetes
Homo sapiens (human)
DOID:0050534
  • congenital stationary night blindness
  • Aliases:
    • congenital essential nyctalopia
Homo sapiens (human)
DOID:0050540
  • Charcot-Marie-Tooth disease type 3
  • Aliases:
    • DEJERINE-SOTTAS NEUROPATHY
    • DEJERINE-SOTTAS SYNDROME
Homo sapiens (human)
DOID:0050545
  • visceral heterotaxy
  • Aliases:
    • heterotaxia
    • situs ambiguus
Homo sapiens (human)
DOID:0050546
  • congenital adrenal insufficiency
  • Aliases:
    • ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
    • Adrenal insufficiency, congenital, with 46,XY sex reversal
    • P450scc DEFICIENCY
Homo sapiens (human)
DOID:0050547
  • familial medullary thyroid carcinoma
  • Aliases:
    • THYROID CARCINOMA, FAMILIAL MEDULLARY
Homo sapiens (human)
DOID:0050548
  • hereditary sensory neuropathy
  • Aliases:
    • familial dysautonomia, type II
    • hereditary sensory and autonomic neuropathy
Homo sapiens (human)
DOID:0050554
  • X-linked sideroblastic anemia with ataxia
  • Aliases:
    • Anemia sideroblastic and spinocerebellar ataxia
    • Anemia, sideroblastic, spinocerebellar ataxia
    • X-linked sideroblastic anaemia and ataxia
    • X-linked sideroblastic anaemia with ataxia
    • X-linked sideroblastic anemia and ataxia
Homo sapiens (human)
DOID:0050559
  • Fukuyama congenital muscular dystrophy
Homo sapiens (human)
DOID:0050560
  • Walker-Warburg syndrome
  • Aliases:
    • HARD syndrome
    • cerebroocular dysplasia-muscular dystrophy syndrome
Homo sapiens (human)
DOID:0050562
  • West syndrome
Homo sapiens (human)
DOID:0050563
  • nonsyndromic deafness
  • Aliases:
    • nonsyndromic hearing loss
    • nonsyndromic hereditary hearing loss
Homo sapiens (human)
DOID:0050565
  • autosomal recessive nonsyndromic deafness
Homo sapiens (human)
DOID:0050567
  • orofacial cleft
Homo sapiens (human)
DOID:0050569
  • Seckel syndrome
  • Aliases:
    • Harper's syndrome
    • Virchow-Seckel dwarfism
    • bird-headed dwarfism
    • microcephalic primordial dwarfism
Homo sapiens (human)
DOID:0050570
  • congenital disorder of glycosylation type I
Homo sapiens (human)
DOID:0050571
  • congenital disorder of glycosylation type II
Homo sapiens (human)
DOID:0050572
  • cone-rod dystrophy
  • Aliases:
    • cone-rod retinal dystrophy
Homo sapiens (human)
DOID:0050573
  • 2-hydroxyglutaric aciduria
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: April 7, 2025