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 12376 - 12400 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0050452
  • mevalonic aciduria
  • Aliases:
    • Mevalonate Kinase Deficiency
Homo sapiens (human)
DOID:3512
  • neurofibrosarcoma
  • Aliases:
    • Neurosarcoma
Homo sapiens (human)
DOID:0111598
  • distal arthrogryposis type 1B
  • Aliases:
    • DA1B
Homo sapiens (human)
DOID:0060654
  • lethal congenital contracture syndrome 4
Homo sapiens (human)
DOID:0081348
  • congenital myopathy 16
Homo sapiens (human)
DOID:0110310
  • hypertrophic cardiomyopathy 4
  • Aliases:
    • CMH4
    • cardiomyopathy, familial hypertrophic, 4
Homo sapiens (human)
DOID:0081158
  • dilated cardiomyopathy 1MM
Homo sapiens (human)
DOID:5394
  • prolactinoma
  • Aliases:
    • PITUITARY ADENOMA, PROLACTIN-SECRETING
    • Prolactinoma of Pituitary gland
    • familial prolactinoma
Homo sapiens (human)
DOID:0110858
  • polycystic kidney disease 1
  • Aliases:
    • Apkd1
    • Pkd1
    • Polycystic Kidney Disease, Adult, Type I
Homo sapiens (human)
DOID:13543
  • hyperparathyroidism
Homo sapiens (human)
DOID:3672
  • rhabdoid cancer
  • Aliases:
    • Rhabdoid sarcoma
    • malignant rhabdoid tumour
Homo sapiens (human)
DOID:8584
  • Burkitt lymphoma
  • Aliases:
    • Burkitt lymphoma/leukaemia
    • Burkitt's Lymphoma
    • Burkitt's tumor
    • Burkitt's tumor or lymphoma
    • malignant lymphoma, Burkitt's type
    • small Non-Cleaved cell Lymphoma, Burkitt's type
Homo sapiens (human)
DOID:0060464
  • Feingold syndrome
  • Aliases:
    • FGLDS
    • MODED syndrome
    • ODED syndrome
    • digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
    • microcephaly-digital anomalies-normal intelligence syndrome
    • microcephaly-oculo-digito-esophageal-duodenal syndrome
    • oculo-digito-esophageal-duodenal syndrome
Homo sapiens (human)
DOID:12253
  • testicular lymphoma
  • Aliases:
    • lymphoma of the testis
    • malignant lymphoma of testis
Homo sapiens (human)
DOID:0060162
  • dentatorubral-pallidoluysian atrophy
  • Aliases:
    • DRPLA
    • Haw River Syndrome
    • Naito-Oyanagi disease
Drosophila melanogaster (fruit fly)
DOID:3755
  • antithrombin III deficiency
  • Aliases:
    • AT III deficiency
    • hereditary thrombophilia due to congenital antithrombin deficiency
Homo sapiens (human)
DOID:0070197
  • distal myopathy 1
  • Aliases:
    • Distal myopathy type 1
    • Gowers disease
    • Laing distal myopathy
    • Laing early-onset distal myopathy
    • MPD1
Homo sapiens (human)
DOID:0110307
  • hypertrophic cardiomyopathy 1
  • Aliases:
    • CMH1
    • cardiomyopathy, familial hypertrophic 1
    • hypertrophic cardiomyopathy 19
Homo sapiens (human)
DOID:0111268
  • autosomal recessive hyaline body myopathy
  • Aliases:
    • MSMB
    • Myopathy, myosin storage, autosomal recessive
    • congenital myopathy 7B
Homo sapiens (human)
DOID:0060651
  • MYH-9 related disease
Homo sapiens (human)
DOID:0110548
  • autosomal dominant nonsyndromic deafness 17
  • Aliases:
    • DFNA17
    • autosomal dominant deafness 17
Homo sapiens (human)
DOID:4929
  • tubular adenocarcinoma
  • Aliases:
    • tubular carcinoma
Homo sapiens (human)
DOID:0050957
  • spinocerebellar ataxia type 4
Homo sapiens (human)
DOID:0111131
  • focal segmental glomerulosclerosis 6
  • Aliases:
    • FSGS6
Homo sapiens (human)
DOID:0060832
  • Griscelli syndrome type 1
  • Aliases:
    • GS1
    • Griscelli syndrome with neurological impairment
    • Griscelli syndrome, cutaneous and neurological type
    • Griscelli-Prunieras syndrome type 1
    • hypopigmentation-neurologic impairment syndrome
Homo sapiens (human)

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Last updated: December 9, 2024