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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 2826 - 2850 of 4115 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
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:3495
  • extrahepatic bile duct adenocarcinoma
  • Aliases:
    • adenocarcinoma of extrahepatic bile duct
Homo sapiens (human)
DOID:0070053
  • autosomal dominant intellectual developmental disorder 23
  • Aliases:
    • MRD23
    • autosomal dominant mental retardation 23
    • autosomal dominant non-syndromic intellectual disability 23
Homo sapiens (human)
DOID:0081395
  • Harel-Yoon syndrome
  • Aliases:
    • Ocular anomalies-axonal neuropathy-developmental delay syndrome
Homo sapiens (human)
DOID:0081396
  • neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
  • Aliases:
    • PHRINL syndrome
Homo sapiens (human)
DOID:0111091
  • Fanconi anemia complementation group I
  • Aliases:
    • FANCI
Homo sapiens (human)
DOID:0070486
  • Parkinson's disease 25
  • Aliases:
    • PARK25
    • autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development
Homo sapiens (human)
DOID:0112266
  • nephrotic syndrome type 23
  • Aliases:
    • NPHS23
Homo sapiens (human)
DOID:0081220
  • autosomal recessive intellectual developmental disorder 58
Homo sapiens (human)
DOID:0070065
  • autosomal dominant intellectual developmental disorder 35
  • Aliases:
    • MRD35
    • autosomal dominant mental retardation 35
    • autosomal dominant non-syndromic intellectual disability 35
Homo sapiens (human)
DOID:0070420
  • developmental delay, hypotonia, and impaired language
  • Aliases:
    • DEDHIL
Homo sapiens (human)
DOID:3324
  • mood disorder
  • Aliases:
    • episodic mood disorder
Homo sapiens (human)
DOID:0080472
  • developmental and epileptic encephalopathy 91
  • Aliases:
    • infantile or early childhood epileptic encephalopathy 1
Homo sapiens (human)
DOID:0111278
  • histiocytosis-lymphadenopathy plus syndrome
  • Aliases:
    • Faisalabad histiocytosis
    • H syndrome
    • HJCD
    • PHID
    • Rosai–Dorfman disease
    • SHML
    • cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss
    • familial Rosai-Dorfman disease
    • histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness
    • histiocytosis with joint contractures and sensorineural deafness
    • pigmented hypertrichosis with insulin-dependent diabetes mellitus
    • sinus histiocytosis and massive lymphadenopathy
Homo sapiens (human)
DOID:0070255
  • congenital disorder of glycosylation type IIc
  • Aliases:
    • CDG IIc
    • CDG2C
    • CDGIIc
    • Rambam-Hasharon syndrome
Homo sapiens (human)
DOID:0081234
  • autosomal recessive intellectual developmental disorder 75
Homo sapiens (human)
DOID:0110721
  • neuronal ceroid lipofuscinosis 1
  • Aliases:
    • CLN1
    • neuronal ceroid lipofuscinosis 1 variable age of onset
Homo sapiens (human)
DOID:0112121
  • nephrogenic syndrome of inappropriate antidiuresis
  • Aliases:
    • NSIAD
Homo sapiens (human)
DOID:0081060
  • X-linked nephrogenic diabetes insipidus
  • Aliases:
    • nephrogenic diabetes insipidus type 1
Homo sapiens (human)
DOID:13543
  • hyperparathyroidism
Homo sapiens (human)
DOID:0110922
  • familial hemophagocytic lymphohistiocytosis 2
  • Aliases:
    • FHL2
    • HLH2
    • HPLH2
Homo sapiens (human)
DOID:4330
  • non-Langerhans-cell histiocytosis
Homo sapiens (human)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Homo sapiens (human)
DOID:0110170
  • Charcot-Marie-Tooth disease axonal type 2Q
  • Aliases:
    • CMT2Q
    • Charcot-Marie-Tooth neuropathy type 2Q
    • autosomal dominant Charcot-Marie-Tooth disease type 2Q
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Homo sapiens (human)
DOID:0081015
  • congenital fibrosis of the extraocular muscles 1
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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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