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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 1951 - 1975 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0111398
  • congenital dyserythropoietic anemia type Ia
  • Aliases:
    • CDA Ia
    • CDAN1A
Mus musculus (house mouse)
DOID:0111396
  • congenital dyserythropoietic anemia type I
  • Aliases:
    • CDA I
    • CDA type 1
    • CDA type I
    • Congenital dyserythropoietic anaemia type 1
    • Congenital dyserythropoietic anemia type 1
    • congenital dyserythropoietic anaemia type I
Mus musculus (house mouse)
DOID:0111043
  • glycogen storage disease IXc
  • Aliases:
    • GSD type 9C
    • GSD type IXc
    • GSD9C
    • glycogen storage disease type 9C
    • glycogen storage disease type IXc
    • glycogenosis type 9C
    • glycogenosis type IXc
Mus musculus (house mouse)
DOID:0060675
  • catecholaminergic polymorphic ventricular tachycardia 1
  • Aliases:
    • CVPT1
    • arrhythmogenic right ventricular dysplasia 2
Rattus norvegicus (Norway rat)
DOID:3529
  • congenital myopathy 1A
  • Aliases:
    • central core disease
    • central core myopathy
Rattus norvegicus (Norway rat)
DOID:0110594
  • primary ciliary dyskinesia 1
  • Aliases:
    • CILD1
    • primary ciliary dyskinesia 1 with or without situs inversus
Mus musculus (house mouse)
DOID:0060009
  • MHC class I deficiency
  • Aliases:
    • BLS, TYPE I
    • BLSI
    • HLA CLASS I DEFICIENCY
    • bare lymphocyte syndrome type I
Homo sapiens (human)
DOID:0112380
  • muscular dystrophy-dystroglycanopathy type B2
  • Aliases:
    • MDDGB2
    • congenital muscular dystrophy POMT2-related
Rattus norvegicus (Norway rat)
DOID:0111240
  • congenital muscular dystrophy-dystroglycanopathy type A2
  • Aliases:
    • MDDGA2
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
Rattus norvegicus (Norway rat)
DOID:0110298
  • autosomal recessive limb-girdle muscular dystrophy type 2N
  • Aliases:
    • LGMD2N
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
    • muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
Rattus norvegicus (Norway rat)
DOID:0112374
  • muscular dystrophy-dystroglycanopathy
  • Aliases:
    • MDDG
Rattus norvegicus (Norway rat)
DOID:0111787
  • frontometaphyseal dysplasia 2
  • Aliases:
    • FMD2
Homo sapiens (human)
DOID:0111785
  • frontometaphyseal dysplasia
  • Aliases:
    • FMD
Homo sapiens (human)
DOID:11520
  • benign hypertensive renal disease
  • Aliases:
    • hypertensive renal disease, benign
    • hypertensive renal disease, benign, without mention of renal failure
Homo sapiens (human)
DOID:0110933
  • nemaline myopathy 11
  • Aliases:
    • NEM11
    • nemaline myopathy 11, autosomal recessive
Mus musculus (house mouse)
DOID:0110445
  • dilated cardiomyopathy 1KK
  • Aliases:
    • CMD1KK
Mus musculus (house mouse)
DOID:0110327
  • hypertrophic cardiomyopathy 26
  • Aliases:
    • CMH26
    • cardiomyopathy familial hypertrophic 26
Mus musculus (house mouse)
DOID:14228
  • oligospermia
Homo sapiens (human)
DOID:0070182
  • spermatogenic failure 13
  • Aliases:
    • SPGF13
Homo sapiens (human)
DOID:0111133
  • focal segmental glomerulosclerosis 8
  • Aliases:
    • FSGS8
Mus musculus (house mouse)
DOID:0081205
  • autosomal recessive intellectual developmental disorder 40
Homo sapiens (human)
DOID:0050436
  • mulibrey nanism
  • Aliases:
    • MUL
    • Mulibrey growth disorder
    • Muscle-Liver-Brain-Eye Nanism
    • PERICARDIAL CONSTRICTION AND GROWTH FAILURE
    • Perheentupa Syndrome
Mus musculus (house mouse)
DOID:14701
  • propionic acidemia
  • Aliases:
    • GLYCINEMIA, KETOTIC
    • KETOTIC HYPERGLYCINEMIA
    • ketotic II glycinemia
    • ketotic glycinemia
    • propionic aciduria
    • propionyl-CoA carboxylase deficiency
Rattus norvegicus (Norway rat)
DOID:0090071
  • hypogonadotropic hypogonadism 11 with or without anosmia
Homo sapiens (human)
DOID:0111076
  • progressive familial heart block type IB
  • Aliases:
    • PFHB1B
Mus musculus (house mouse)
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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: December 9, 2024