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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 251 - 275 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:5410
  • pulmonary neuroendocrine tumor
Homo sapiens (human)
DOID:0111926
  • spermatogenic failure 39
  • Aliases:
    • SPGF39
Homo sapiens (human)
DOID:0112247
  • congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
  • Aliases:
    • CDK13-Related CHDFIDD
    • CDK13-Related Disorder
    • CHDFIDD
Homo sapiens (human)
DOID:3033
  • colon signet ring adenocarcinoma
  • Aliases:
    • Colonic Signet Ring adenocarcinoma
Homo sapiens (human)
DOID:0111513
  • metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
  • Aliases:
    • metaphyseal dysplasia maxillary hypoplasia brachydactyly
    • metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
Homo sapiens (human)
DOID:13994
  • cleidocranial dysplasia
  • Aliases:
    • Marie-Sainton Disease
    • cleidocranial dysostosis
Homo sapiens (human)
DOID:0080349
  • developmental and epileptic encephalopathy 39
  • Aliases:
    • AGC1 deficiency
    • early infantile epileptic encephalopathy 39
    • epileptic encephalopathy with global cerebral demyelination
Homo sapiens (human)
DOID:0050432
  • Asperger syndrome
Homo sapiens (human)
DOID:0110943
  • autosomal recessive osteopetrosis 2
  • Aliases:
    • OPTB2
    • mild autosomal recessive form osteopetrosis
    • osteoclast-poor osteopetrosis
Homo sapiens (human)
DOID:0090048
  • dystonia 16
Homo sapiens (human)
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
Homo sapiens (human)
DOID:14711
  • FG syndrome
  • Aliases:
    • Keller syndrome
    • Opitz-Kaveggia syndrome
Homo sapiens (human)
DOID:070355
  • multisystem proteinopathy
Homo sapiens (human)
DOID:0110199
  • Charcot-Marie-Tooth disease dominant intermediate C
  • Aliases:
    • CMTDIC
    • Charcot-Marie-Tooth neuropathy dominant intermediate C
    • DI-CMTC
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Homo sapiens (human)
DOID:0070399
  • hypomyelinating leukodystrophy 18
  • Aliases:
    • HLD18
Homo sapiens (human)
DOID:0060604
  • ankyloglossia
  • Aliases:
    • tongue-tie
Homo sapiens (human)
DOID:0111474
  • combined oxidative phosphorylation deficiency 1
  • Aliases:
    • COXPD1
    • early fatal progressive hepatoencephalopathy
    • hepatoencephalopathy due to COXPD1
    • hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Homo sapiens (human)
DOID:0060540
  • Hermansky-Pudlak syndrome 2
Homo sapiens (human)
DOID:0112349
  • hereditary spastic paraplegia 81
  • Aliases:
    • SPG81
    • autosomal recessive complex SPG due to Kennedy pathway dysfunction
    • autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
    • spastic paraplegia 81 autosomal recessive
Homo sapiens (human)
DOID:0081075
  • Marsili syndrome
  • Aliases:
    • congenital analgesia
    • congenital insensitivity to pain
Homo sapiens (human)
DOID:0080415
  • developmental and epileptic encephalopathy 23
  • Aliases:
    • DEE23
    • Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
    • Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
    • early infantile epileptic encephalopathy 23
Homo sapiens (human)
DOID:2580
  • rhizomelic chondrodysplasia punctata
  • Aliases:
    • Chondrodysplasia Punctata, Rhizomelic Form
Homo sapiens (human)
DOID:0110853
  • rhizomelic chondrodysplasia punctata type 3
  • Aliases:
    • Agps Deficiency
    • Alkyldihydroxyacetonephosphate Synthase Deficiency
    • Alkylglycerone-Phosphate Synthase Deficiency
    • Rcdp3
Homo sapiens (human)
DOID:0080105
  • microcephaly and chorioretinopathy 1
Homo sapiens (human)
DOID:0110669
  • congenital myasthenic syndrome 14
  • Aliases:
    • CMS14
    • CMSTA3
    • congenital myasthenic syndrome 14, with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 3
Homo sapiens (human)
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Last updated: February 17, 2025