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 9151 - 9175 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0070098
  • oculocutaneous albinism type IV
  • Aliases:
    • OCA4
Homo sapiens (human)
DOID:0112350
  • spermatogenic failure 61
  • Aliases:
    • SPGF61
Homo sapiens (human)
DOID:11801
  • protein-energy malnutrition
Homo sapiens (human)
DOID:0111214
  • autosomal recessive distal hereditary motor neuronopathy 5
  • Aliases:
    • DSMA5
    • autosomal recessive distal spinal muscular atrophy type 5
    • distal spinal muscular atrophy type 5
    • young adult-onset dHMN
    • young adult-onset distal hereditary motor neuropathy
Homo sapiens (human)
DOID:0111730
  • familial episodic pain syndrome 2
  • Aliases:
    • FEPS2
Homo sapiens (human)
DOID:746
  • adenomatoid tumor
  • Aliases:
    • adenomatoid tumour
    • benign localised epithelial Mesothelioma
    • benign localized epithelial Mesothelioma
Homo sapiens (human)
DOID:3565
  • meningioma
  • Aliases:
    • meningeal neoplasm
    • meningothelial cell tumor
    • neoplasm of the meninges
    • primary Meningeal tumor
Homo sapiens (human)
DOID:3151
  • skin squamous cell carcinoma
  • Aliases:
    • Epidermoid skin carcinoma
Homo sapiens (human)
DOID:0111149
  • autosomal recessive isolated ectopia lentis 2
  • Aliases:
    • ECTOL2
Homo sapiens (human)
DOID:0111981
  • immunodeficiency 43
  • Aliases:
    • B2M deficiency
    • IMD43
    • beta-2-microglobulin deficiency
    • hypercatabolic hypoproteinemia
Homo sapiens (human)
DOID:0090122
  • aromatase excess syndrome
  • Aliases:
    • AEXS
    • familial hyperestrogenism
    • hereditary prepubertal gynecomastia
    • increased aromatase activity
Homo sapiens (human)
DOID:0111835
  • congenital nongoitrous hypothyroidism 9
  • Aliases:
    • CHNG9
Homo sapiens (human)
DOID:0112347
  • hereditary spastic paraplegia 84
  • Aliases:
    • SPG84
    • spastic paraplegia 84 autosomal recessive
Homo sapiens (human)
DOID:0070296
  • primary autosomal recessive microcephaly
  • Aliases:
    • MCPH
Homo sapiens (human)
DOID:0060210
  • amyotrophic lateral sclerosis type 19
  • Aliases:
    • ALS19
    • amyotrophic lateral sclerosis 19
Homo sapiens (human)
DOID:8866
  • actinic keratosis
  • Aliases:
    • SK - Solar keratosis
    • Senile hyperkeratosis
    • Solar keratosis
    • actinic (Solar) Keratosis
Homo sapiens (human)
DOID:0070298
  • multiple epiphyseal dysplasia 2
  • Aliases:
    • EDM2
Homo sapiens (human)
DOID:0112359
  • congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
  • Aliases:
    • CAKUTHED
Homo sapiens (human)
DOID:0111944
  • immunodeficiency 31B
  • Aliases:
    • IMD31B
    • autosomal recessive STAT1 deficiency
    • autosomal recessive immunodeficiency 31B, mycobacterial and viral infections
    • predisposition to severe viral infection due to STAT1 deficiency
    • susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Homo sapiens (human)
DOID:0112315
  • brain small vessel disease 3
  • Aliases:
    • BSVD3
Homo sapiens (human)
DOID:28
  • endocrine system disease
Homo sapiens (human)
DOID:0110458
  • dilated cardiomyopathy 1BB
  • Aliases:
    • CMD1BB
Homo sapiens (human)
DOID:5585
  • Ferguson-Smith tumor
  • Aliases:
    • Multiple self-healing epithelioma of Ferguson-Smith
Homo sapiens (human)
DOID:0110052
  • amelogenesis imperfecta type 1B
  • Aliases:
    • AI1B
    • AIH2
    • amelogenesis imperfecta type IB
    • autosomal dominant hypoplastic local amelogenesis imperfecta
    • hereditary localized enamel hypoplasia
Homo sapiens (human)
DOID:0110393
  • retinitis pigmentosa 66
  • Aliases:
    • RP66
Homo sapiens (human)

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Last updated: December 9, 2024