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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 9576 - 9600 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0081324
  • neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
  • Aliases:
    • NEDGTH
Mus musculus (house mouse)
DOID:0060475
  • myoclonic-atonic epilepsy
  • Aliases:
    • EEOC
    • childhood onset epileptic encephalopathy
Caenorhabditis elegans
DOID:0110731
  • neuronal ceroid lipofuscinosis 3
  • Aliases:
    • Batten disease
    • CLN3
    • juvenile neuronal ceroid lipofuscinosis
Caenorhabditis elegans
DOID:0110721
  • neuronal ceroid lipofuscinosis 1
  • Aliases:
    • CLN1
    • neuronal ceroid lipofuscinosis 1 variable age of onset
Caenorhabditis elegans
DOID:0110865
  • congenital stationary night blindness 1B
  • Aliases:
    • CSNB1B
    • autosomal recessive complete congenital stationary night blindness
    • congenital stationary night blindness 1B autosomal recessive
Caenorhabditis elegans
DOID:10907
  • microcephaly
  • Aliases:
    • Microcephalus
    • microencephaly
Mus musculus (house mouse)
DOID:0070068
  • autosomal dominant intellectual developmental disorder 38
  • Aliases:
    • MRD38
    • PRELDS
    • autosomal dominant mental retardation 38
    • autosomal dominant non-syndromic intellectual disability 38
    • psychomotor retardation, epilepsy, and language disability syndrome
Homo sapiens (human)
DOID:0060780
  • congenital diarrhea 6
  • Aliases:
    • chronic diarrhea due to guanylate cyclase 2C overactivity
    • chronic diarrhoea due to guanylate cyclase 2C overactivity
    • congenital diarrhoea 6
Caenorhabditis elegans
DOID:0060611
  • abdominal obesity-metabolic syndrome
Caenorhabditis elegans
DOID:0111156
  • spermatogenic failure 9
  • Aliases:
    • globozoospermia
    • male infertility due to round-headed spermatozoa
Caenorhabditis elegans
DOID:0050889
  • non-syndromic intellectual disability
Rattus norvegicus (Norway rat)
DOID:0081188
  • autosomal recessive intellectual developmental disorder 14
Rattus norvegicus (Norway rat)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Mus musculus (house mouse)
DOID:0110961
  • atypical Gaucher's disease due to saposin c deficiency
Mus musculus (house mouse)
DOID:0080463
  • developmental and epileptic encephalopathy 33
  • Aliases:
    • DEE33
    • early infantile epileptic encephalopathy 33
Homo sapiens (human)
DOID:0111667
  • enterokinase deficiency
  • Aliases:
    • congenital enterokinase deficiency
    • congenital enteropathy due to enteropeptidase deficiency
    • deficiency of enteropeptidase
Mus musculus (house mouse)
DOID:0060720
  • autosomal recessive congenital ichthyosis 11
  • Aliases:
    • IFAH syndrome
    • IHS
    • autosomal recessive ichthyosis with hypotrichosis
    • hypotrichosis-congenital ichthyosis syndrome
    • ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis
    • ichthyosis-follicular atrophoderma-hypotrichosis syndrome
    • ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
    • ichthyosis-hypotrichosis syndrome
Mus musculus (house mouse)
DOID:0081177
  • autosomal recessive intellectual developmental disorder 1
Mus musculus (house mouse)
DOID:0111739
  • X-linked deafness 1
  • Aliases:
    • DFN2
    • DFNX1
    • X-linked sensorineural congenital deafness 2
Mus musculus (house mouse)
DOID:0111260
  • phosphoribosylpyrophosphate synthetase superactivity
  • Aliases:
    • PRPP synthetase superactivity
    • PRPS1 superactivity
Mus musculus (house mouse)
DOID:0050647
  • Arts syndrome
  • Aliases:
    • ARTS
    • Lethal ataxia with deafness and optic atrophy
    • MRXS18
    • MRXSARTS
    • fatal X-linked ataxia with deafness and loss of vision
    • syndromic X-linked mental retardation 18
    • syndromic X-linked mental retardation Arts type
Mus musculus (house mouse)
DOID:0110210
  • Charcot-Marie-Tooth disease X-linked recessive 5
  • Aliases:
    • CMT5X
    • CMTX5
    • Charcot-Marie-Tooth neuropathy X-linked recessive 5
    • Rosenberg-Chutorian syndrome
    • X-linked Charcot-Marie-Tooth disease type 5
    • optic atrophy, polyneuropathy, and deafness
Mus musculus (house mouse)
DOID:0060874
  • isolated growth hormone deficiency type IB
  • Aliases:
    • IGHD IB
    • congenital IGHD type IB
    • congenital isolated GH deficiency type IB
    • congenital isolated growth hormone deficiency type IB
    • dwarfism of Sindh
Caenorhabditis elegans
DOID:9164
  • achalasia
  • Aliases:
    • Lack of reflex relaxation of lower oesophageal sphincter
    • achalasia of cardia
    • achalasia of esophagus
    • cardiospasm
    • esophageal achalasia
    • hypertensive lower esophageal sphincter
Caenorhabditis elegans
DOID:0060870
  • isolated growth hormone deficiency
  • Aliases:
    • IGHD
    • congenital IGHD
    • congenital isolated GH deficiency
    • congenital isolated growth hormone deficiency
    • familial isolated growth hormone deficiency
    • non-acquired isolated growth hormone deficiency
Caenorhabditis elegans
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Last updated: December 9, 2024