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 9026 - 9050 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0110157
  • Charcot-Marie-Tooth disease type 2J
  • Aliases:
    • CMT2J
    • Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities
    • Charcot-Marie-Tooth neuropathy type 2J
Rattus norvegicus (Norway rat)
DOID:0111640
  • autosomal recessive nonsyndromic deafness 111
  • Aliases:
    • DFNB111
    • autosomal recessive deafness 111
Mus musculus (house mouse)
DOID:0111998
  • immunodeficiency 66
  • Aliases:
    • IMD66
Mus musculus (house mouse)
DOID:0080412
  • familial adenomatous polyposis 4
Mus musculus (house mouse)
DOID:0070272
  • hereditary nonpolyposis colorectal cancer type 5
  • Aliases:
    • HNPCC5
Mus musculus (house mouse)
DOID:4897
  • bile duct carcinoma
Mus musculus (house mouse)
DOID:26
  • pancreas disease
Mus musculus (house mouse)
DOID:26
  • pancreas disease
Rattus norvegicus (Norway rat)
DOID:4897
  • bile duct carcinoma
Rattus norvegicus (Norway rat)
DOID:0112001
  • immunodeficiency 50
  • Aliases:
    • CID due to Moesin deficiency
    • IMD50
    • MSN-related combined immunodeficiency
    • X-linked Moesin-associated immunodeficiency
    • combined immunodeficiency due to Moesin deficiency
    • immunodeficiency 50 X linked recessive
Mus musculus (house mouse)
DOID:0070249
  • autosomal dominant Emery-Dreifuss muscular dystrophy 4
  • Aliases:
    • EDMD4
    • Emery-Dreifuss muscular dystrophy 4 with variable features
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Drosophila melanogaster (fruit fly)
DOID:0080979
  • arthrogryposis multiplex congenita-3
Drosophila melanogaster (fruit fly)
DOID:0070250
  • autosomal dominant Emery-Dreifuss muscular dystrophy 5
  • Aliases:
    • EDMD5
    • Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Drosophila melanogaster (fruit fly)
DOID:11726
  • Emery-Dreifuss muscular dystrophy
  • Aliases:
    • EDMD
Drosophila melanogaster (fruit fly)
DOID:0080954
  • arthrogryposis multiplex congenita
Drosophila melanogaster (fruit fly)
DOID:0111618
  • autosomal recessive spinocerebellar ataxia 8
  • Aliases:
    • ARCA1
    • Autosomal recessive cerebellar ataxia type 1
    • SCAR8
    • SYNE1-related autosomal recessive cerebellar ataxia
    • autosomal recessive ataxia, Beauce type
    • recessive ataxia of Beauce
Drosophila melanogaster (fruit fly)
DOID:0111072
  • myostatin-related muscle hypertrophy
  • Aliases:
    • MSLHP
Mus musculus (house mouse)
DOID:0111072
  • myostatin-related muscle hypertrophy
  • Aliases:
    • MSLHP
Rattus norvegicus (Norway rat)
DOID:0080664
  • diaphyseal medullary stenosis with malignant fibrous histiocytoma
  • Aliases:
    • Hardcastle syndrome
    • bone dysplasia-medullary fibrosarcoma syndrome
    • diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
Mus musculus (house mouse)
DOID:0080633
  • developmental cardiac valvular defect
Mus musculus (house mouse)
DOID:0111225
  • centronuclear myopathy X-linked
  • Aliases:
    • CNMX
    • MTM1
    • X-linked myotubular myopathy
    • XLCNM
    • XLMTM
    • myotubular myopathy 1
Mus musculus (house mouse)
DOID:0111480
  • combined oxidative phosphorylation deficiency 10
  • Aliases:
    • COXPD10
    • infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis
    • mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mus musculus (house mouse)
DOID:0060286
  • combined oxidative phosphorylation deficiency
Mus musculus (house mouse)
DOID:8411
  • kidney angiomyolipoma
  • Aliases:
    • Angiomyolipoma of kidney
    • renal Angiomyolipoma
Mus musculus (house mouse)
DOID:13810
  • familial hypercholesterolemia
  • Aliases:
    • Fredrickson type IIa hyperlipoproteinemia
    • Fredrickson type IIa lipidaemia
    • familial hyperbetalipoproteinaemia
    • familial hypercholesteremia
    • hyperbetalipoproteinemia
    • type II hyperlipidemia
Drosophila melanogaster (fruit fly)

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Last updated: December 9, 2024