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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 5076 - 5100 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0081366
  • Paget's disease of bone 3
  • Aliases:
    • Paget disease of bone-3
Homo sapiens (human)
DOID:14679
  • VACTERL association
Homo sapiens (human)
DOID:13404
  • uveoparotid fever
  • Aliases:
    • Heerfordt's syndrome
Homo sapiens (human)
DOID:636
  • central pontine myelinolysis
  • Aliases:
    • osmotic demyelination syndrome
Homo sapiens (human)
DOID:11725
  • Cornelia de Lange syndrome
  • Aliases:
    • Brachmann de Lange syndrome
    • De Lange syndrome
Homo sapiens (human)
DOID:0110223
  • Brugada syndrome 6
  • Aliases:
    • BRGDA6
Homo sapiens (human)
DOID:0050336
  • hypophosphatemia
Homo sapiens (human)
DOID:0060770
  • dextro-looped transposition of the great arteries
  • Aliases:
    • D-TGA
    • DTGA1
    • congenitally uncorrected transposition of the great arteries
    • congenitally uncorrected transposition of the great vessels
    • isolated ventriculoarterial discordance
    • ventriculoarterial discordance with atrioventricular concordance
Homo sapiens (human)
DOID:4471
  • chromophobe renal cell carcinoma
  • Aliases:
    • Chromophobe carcinoma of kidney
    • chromophobe adenocarcinoma
    • kidney chromophobe
    • renal cell carcinoma, chromophobe cell
Homo sapiens (human)
DOID:4137
  • common bile duct disease
Homo sapiens (human)
DOID:0112004
  • immunodeficiency 71
  • Aliases:
    • IMD71
    • PLTEID
    • immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
    • platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Homo sapiens (human)
DOID:0080797
  • nasal type extranodal NK/T-cell lymphoma
Homo sapiens (human)
DOID:11049
  • meconium aspiration syndrome
  • Aliases:
    • Neonatal aspiration of meconium
    • meconium aspiration
Homo sapiens (human)
DOID:0110168
  • Charcot-Marie-Tooth disease type 2Y
  • Aliases:
    • CMT2 due to VCP mutation
    • CMT2Y
    • Charcot-Marie-Tooth neuropathy type 2Y
    • autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
    • autosomal dominant axonal Charcot-Marie-Tooth type 2Y
Homo sapiens (human)
DOID:3762
  • cytochrome-c oxidase deficiency disease
  • Aliases:
    • MITOCHONDRIAL COMPLEX IV DEFICIENCY
Homo sapiens (human)
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
Homo sapiens (human)
DOID:10605
  • short bowel syndrome
  • Aliases:
    • acquired short bowel syndrome
    • short gut syndrome
Homo sapiens (human)
DOID:0050948
  • autosomal dominant hypophosphatemic rickets
Homo sapiens (human)
DOID:0060823
  • syndromic X-linked intellectual disability 94
  • Aliases:
    • MRX94
    • MRXS29
    • mental retardation, X-linked 94
    • syndromic X-linked intellectual disability due to GRIA3 anomalies
    • syndromic X-linked mental retardation 29
    • syndromic X-linked mental retardation Wu type
Homo sapiens (human)
DOID:1245
  • vulva cancer
  • Aliases:
    • Ca vulva
    • Vulvar tumor
    • malignant Vulvar tumor
    • malignant neoplasm of vulva
    • malignant tumor of vulva
    • neoplasm of vulva
    • vulval cancer
    • vulval neoplasm
    • vulvar neoplasm
Homo sapiens (human)
DOID:10140
  • dry eye syndrome
  • Aliases:
    • Tear film insufficiency
    • dry eye disease
Homo sapiens (human)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Homo sapiens (human)
DOID:0111844
  • X-linked intellectual developmental disorder 108
  • Aliases:
    • MRX108
Homo sapiens (human)
DOID:0070037
  • autosomal dominant intellectual developmental disorder 7
  • Aliases:
    • DYRK1A syndrome
    • MRD7
    • autosomal dominant mental retardation 7
    • autosomal dominant non-syndromic intellectual disability 7
Homo sapiens (human)
DOID:0110662
  • congenital myasthenic syndrome 1B
  • Aliases:
    • CMS1B
    • congenital myasthenic syndrome 1B, fast-channel
Homo sapiens (human)
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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: December 9, 2024