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 11976 - 12000 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
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
Homo sapiens (human)
DOID:0060799
  • syndromic X-linked intellectual disability Lubs type
  • Aliases:
    • Lubs X-linked mental retardation syndrome
    • MECP2 duplication syndrome
    • MRXSL
    • X-linked intellectual disability-hypotonia-recurrent Infections syndrome
    • mental retardation, X-linked, syndromic, Lubs type
    • mental retardation, X-linked, with recurrent respiratory infections
Homo sapiens (human)
DOID:0111932
  • severe congenital encephalopathy due to MECP2 mutation
  • Aliases:
    • neonatal severe encephalopathy due to MECP2 mutations
    • severe neonatal-onset encephalopathy with microcephaly
Homo sapiens (human)
DOID:0070050
  • neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • Aliases:
    • MRD20
    • autosomal dominant mental retardation 20
    • mental retardation, autosomal dominant 20
Homo sapiens (human)
DOID:0080746
  • Sweet syndrome
  • Aliases:
    • Acute Febrile Neutrophilic Dermatosis
    • Sweet's syndrome
Homo sapiens (human)
DOID:0070403
  • hypomyelinating leukodystrophy 26
  • Aliases:
    • HLD26
Drosophila melanogaster (fruit fly)
DOID:0111769
  • 46,XY sex reversal 6
  • Aliases:
    • 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related
    • 46,XY sex reversal, partial or complete, MAP3K1-related
    • SRXY6
Homo sapiens (human)
DOID:0080763
  • diffuse gastric cancer
Homo sapiens (human)
DOID:0080563
  • congenital disorder of glycosylation Ik
  • Aliases:
    • congenital disorder of glycosylation 1k
Drosophila melanogaster (fruit fly)
DOID:0060597
  • atypical chronic myeloid leukemia, BCR-ABL1 negative
  • Aliases:
    • aCML
    • atypical CML
    • atypical chronic myeloid leukaemia
    • atypical chronic myeloid leukaemia BCR-ABL1 negative
    • atypical chronic myeloid leukemia BCR-ABL1 negative
    • subacute myeloid leukemia
Drosophila melanogaster (fruit fly)
DOID:5015
  • fibrolamellar carcinoma
  • Aliases:
    • Fibrolamellar hepatocellular carcinoma
    • Hepatocellular carcinoma, fibrolamellar
    • Oncocytic Hepatocellular tumor
Drosophila melanogaster (fruit fly)
DOID:0111532
  • osteoglophonic dysplasia
  • Aliases:
    • Fairbank-Keats syndrome
    • OGD
    • osteoglophonic dwarfism
Drosophila melanogaster (fruit fly)
DOID:0090078
  • hypogonadotropic hypogonadism 7 with or without anosmia
Drosophila melanogaster (fruit fly)
DOID:403
  • mouth disease
Drosophila melanogaster (fruit fly)
DOID:12689
  • acoustic neuroma
  • Aliases:
    • Vestibular Neurilemmoma
    • Vestibular schwannoma
Drosophila melanogaster (fruit fly)
DOID:0081312
  • T-cell non-Hodgkin lymphoma
Drosophila melanogaster (fruit fly)
DOID:5327
  • retinal detachment
Drosophila melanogaster (fruit fly)
DOID:0090083
  • hypogonadotropic hypogonadism 2 with or without anosmia
Drosophila melanogaster (fruit fly)
DOID:0111199
  • autosomal dominant distal hereditary motor neuronopathy 7
  • Aliases:
    • DHMN7A
    • DHMNVPy
    • HMN VIIA
    • HMN7A
    • Harper-Young myopath
    • dHMN7
    • distal hereditary motor neuronopathy type 7
    • distal hereditary motor neuropathy type VIIA
    • distal spinal muscular atrophy with vocal cord paralysis
    • distal spinal muscular atrophy with vocal cord paralysis type 7A
Drosophila melanogaster (fruit fly)
DOID:0110661
  • congenital myasthenic syndrome 20
  • Aliases:
    • CMS20
    • congenital myasthenic syndrome 20 presynaptic
Drosophila melanogaster (fruit fly)
DOID:799
  • varicose veins
  • Aliases:
    • Varix
    • Venous ectasia
    • Venous varices
    • varices
Drosophila melanogaster (fruit fly)
DOID:5241
  • hemangioblastoma
  • Aliases:
    • Capillary Hemangioblastoma
Drosophila melanogaster (fruit fly)
DOID:0050476
  • Barth syndrome
  • Aliases:
    • 3-methylglutaconicaciduria type 2
    • 3-methylglutaconicaciduria type II
    • MGA Type 2
    • MGA type II
Homo sapiens (human)
DOID:4465
  • papillary renal cell carcinoma
  • Aliases:
    • Chromophil carcinoma of kidney
    • papillary kidney carcinoma
    • sporadic papillary renal cell carcinoma
Homo sapiens (human)
DOID:0110539
  • autosomal recessive nonsyndromic deafness 97
  • Aliases:
    • DFNB97
    • autosomal recessive deafness 97
Homo sapiens (human)

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Last updated: December 9, 2024