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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 8651 - 8675 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0070273
  • hereditary nonpolyposis colorectal cancer type 6
  • Aliases:
    • HNPCC6
Mus musculus (house mouse)
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Mus musculus (house mouse)
DOID:0110552
  • autosomal dominant nonsyndromic deafness 22
  • Aliases:
    • DFNA22
    • autosomal dominant deafness 22
Mus musculus (house mouse)
DOID:8923
  • skin melanoma
  • Aliases:
    • cutaneous melanoma
    • malignant ear melanoma
    • malignant lip melanoma
    • malignant lower limb melanoma
    • malignant melanoma of ear and/or external auricular canal
    • malignant melanoma of skin of lower limb
    • malignant melanoma of skin of trunk except scrotum
    • malignant melanoma of skin of upper limb
    • malignant neck melanoma
    • malignant scalp melanoma
    • malignant trunk melanoma
    • malignant upper limb melanoma
Mus musculus (house mouse)
DOID:0080444
  • developmental and epileptic encephalopathy 27
  • Aliases:
    • DEE27
    • early infantile epileptic encephalopathy 27
Mus musculus (house mouse)
DOID:0110832
  • Usher syndrome type 1F
  • Aliases:
    • USH1F
    • Usher syndrome type IF
Mus musculus (house mouse)
DOID:0070118
  • Meckel syndrome 4
  • Aliases:
    • MKS4
    • Meckel-Gruber syndrome, type 4
Mus musculus (house mouse)
DOID:0080217
  • lysosomal acid lipase deficiency
  • Aliases:
    • LAL deficiency
    • LAL-D
Mus musculus (house mouse)
DOID:445
  • Bartter disease
  • Aliases:
    • Aldosteronism with hyperplasia of the adrenal cortex
    • Bartter's syndrome
Mus musculus (house mouse)
DOID:2997
  • Sertoli-Leydig cell tumor
Mus musculus (house mouse)
DOID:0112318
  • Schindler disease type 1
  • Aliases:
    • NAGA deficiency type 1
    • alpha-N-acetylgalactosaminidase deficiency type 1
Mus musculus (house mouse)
DOID:1920
  • hyperuricemia
  • Aliases:
    • Blood urate raized
    • uricacidemia
Mus musculus (house mouse)
DOID:0110953
  • Waardenburg syndrome type 4A
  • Aliases:
    • WS4A
    • Waardenburg syndrome type IVA
    • Waardenburg syndrome with Hirschsprung disease type 4A
Mus musculus (house mouse)
DOID:0081164
  • dilated cardiomyopathy 3B
Mus musculus (house mouse)
DOID:14069
  • cerebral malaria
  • Aliases:
    • Malarial encephalitis
Mus musculus (house mouse)
DOID:0080940
  • hereditary angioedema type III
Mus musculus (house mouse)
DOID:4780
  • anti-basement membrane glomerulonephritis
  • Aliases:
    • anti-GBM glomerulonephritis
Mus musculus (house mouse)
DOID:0110741
  • type 1 diabetes mellitus 2
  • Aliases:
    • IDDM2
    • Insulin-Dependent Diabetes Mellitus 2
Mus musculus (house mouse)
DOID:2512
  • nevoid basal cell carcinoma syndrome
  • Aliases:
    • Gorlin syndrome
    • NBCCS
    • basal cell nevus syndrome
Mus musculus (house mouse)
DOID:5199
  • ureteral obstruction
Mus musculus (house mouse)
DOID:823
  • periapical periodontitis
  • Aliases:
    • Apical periodontitis
Mus musculus (house mouse)
DOID:0090055
  • dystonia 25
Mus musculus (house mouse)
DOID:0070517
  • retinal macular dystrophy 2
  • Aliases:
    • MCDR2
Mus musculus (house mouse)
DOID:0060827
  • X-linked intellectual disability-psychosis-macroorchidism syndrome
  • Aliases:
    • Lindsay-Burn syndrome
    • MRXS13
    • PPM-X
    • X-linked mental retardation 79
    • X-linked mental retardation with spasticity
    • mental retardation with psychosis, pyramidal signs, and macroorchidism
    • mental retardation, X-linked, syndromic 13
Mus musculus (house mouse)
DOID:4441
  • dysgerminoma
Mus musculus (house mouse)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025