GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3751 - 3775 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:12711
  • black piedra
Homo sapiens (human)
DOID:11367
  • congenital aphakia
  • Aliases:
    • APHAKIA, CONGENITAL PRIMARY
    • Congenital absence of lens
Homo sapiens (human)
DOID:0112127
  • HRPT-related hyperuricemia
  • Aliases:
    • HPRT deficiency, grade I
    • HPRT partial deficiency
    • HPRT-related gout
    • HPRT-related hyperuricemia
    • HPRT1 partial deficiency
    • Kelley-Seegmiller syndrome
    • hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
    • hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
    • hypoxanthine guanine phosphoribosyltransferase partial deficiency
Homo sapiens (human)
DOID:0050782
  • Zollinger-Ellison syndrome
Homo sapiens (human)
DOID:0110469
  • autosomal recessive nonsyndromic deafness 14
  • Aliases:
    • DFNB14
    • autosomal recessive deafness 14
Homo sapiens (human)
DOID:0050719
  • cerebral folate receptor alpha deficiency
  • Aliases:
    • Neurodegeneration due to cerebral folate transport deficiency
Homo sapiens (human)
DOID:0080555
  • congenital disorder of glycosylation Ic
  • Aliases:
    • congenital disorder of glycosylation 1c
Homo sapiens (human)
DOID:5854
  • silent myocardial infarction
Homo sapiens (human)
DOID:1271
  • capillary disease
  • Aliases:
    • disease of capillaries
Homo sapiens (human)
DOID:11103
  • rickettsialpox
  • Aliases:
    • Rickettsia akari spotted fever
    • Vesicular rickettsiosis
Homo sapiens (human)
DOID:12559
  • idiopathic juvenile osteoporosis
  • Aliases:
    • Idiopathic osteoporosis
    • juvenile osteoporosis
Homo sapiens (human)
DOID:0050883
  • infantile cerebellar-retinal degeneration
Homo sapiens (human)
DOID:0111344
  • myeloproliferative disorder with eosinophilia
  • Aliases:
    • chronic myeloproliferative disorder with eosinophilia
Homo sapiens (human)
DOID:0050576
  • Senior-Loken syndrome
  • Aliases:
    • Loken Senior syndrome
    • renal-retinal syndrome
Homo sapiens (human)
DOID:2559
  • opiate dependence
  • Aliases:
    • Opioid type dependence
Homo sapiens (human)
DOID:936
  • brain disease
  • Aliases:
    • encephalopathy
Homo sapiens (human)
DOID:452
  • pleomorphic adenoma
  • Aliases:
    • mixed tumor of the Salivary gland
Homo sapiens (human)
DOID:0050689
  • brachydactyly-syndactyly syndrome
Homo sapiens (human)
DOID:0050569
  • Seckel syndrome
  • Aliases:
    • Harper's syndrome
    • Virchow-Seckel dwarfism
    • bird-headed dwarfism
    • microcephalic primordial dwarfism
Homo sapiens (human)
DOID:11175
  • enophthalmos
Homo sapiens (human)
DOID:0050539
  • Charcot-Marie-Tooth disease type 2
  • Aliases:
    • hereditary motor and sensory neuropathy Guadalajara neuronal type
    • hereditary motor and sensory neuropathy Okinawa type
    • hereditary motor and sensory neuropathy type 2
Homo sapiens (human)
DOID:4606
  • bile duct cancer
  • Aliases:
    • Ca extrahepatic bile ducts
    • bile duct tumor
    • malignant neoplasm of the extrahepatic bile duct
Homo sapiens (human)
DOID:5556
  • testicular malignant germ cell cancer
  • Aliases:
    • malignant germ cell tumor of testis
Homo sapiens (human)
DOID:1510
  • personality disorder
  • Aliases:
    • character disorder
Homo sapiens (human)
DOID:0112315
  • brain small vessel disease 3
  • Aliases:
    • BSVD3
Homo sapiens (human)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024