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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 2326 - 2350 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
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
Homo sapiens (human)
DOID:0081382
  • amyotrophic lateral sclerosis type 28
Homo sapiens (human)
DOID:0081297
  • oculopharyngodistal myopathy 1
Homo sapiens (human)
DOID:0080075
  • Neu-Laxova syndrome 2
Homo sapiens (human)
DOID:0050723
  • PSAT deficiency
  • Aliases:
    • Phosphoserine aminotransferase deficiency
Homo sapiens (human)
DOID:3534
  • Lafora disease
  • Aliases:
    • Lafora Progressive Myoclonic Epilepsy
    • Lafora's disease
    • MYOCLONIC EPILEPSY OF LAFORA
Homo sapiens (human)
DOID:0060206
  • amyotrophic lateral sclerosis type 15
  • Aliases:
    • ALS15
    • amyotrophic lateral sclerosis 15
    • amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Homo sapiens (human)
DOID:0112370
  • Coffin-Siris syndrome 12
  • Aliases:
    • CSS12
Homo sapiens (human)
DOID:0050534
  • congenital stationary night blindness
  • Aliases:
    • congenital essential nyctalopia
Homo sapiens (human)
DOID:980
  • choroidal sclerosis
  • Aliases:
    • Choroidal degenerations
Homo sapiens (human)
DOID:0050645
  • arterial tortuosity syndrome
Homo sapiens (human)
DOID:3376
  • bone osteosarcoma
  • Aliases:
    • Osteosarcoma of bone
    • primary Osteosarcoma of bone
Homo sapiens (human)
DOID:0070133
  • autosomal recessive cutis laxa type IB
  • Aliases:
    • ARCL1B
Homo sapiens (human)
DOID:0110078
  • Leber congenital amaurosis 1
  • Aliases:
    • LCA1
    • amaurosis congenita of Leber I
Homo sapiens (human)
DOID:0111011
  • cone-rod dystrophy 6
  • Aliases:
    • CORD6
    • RCD2
    • retinal cone dystrophy 2
Homo sapiens (human)
DOID:0111999
  • immunodeficiency 61
  • Aliases:
    • IMD61
Homo sapiens (human)
DOID:0111028
  • hemochromatosis type 4
  • Aliases:
    • HFE4
    • autosomal dominant hereditary hemochromatosis
    • ferroportin disease
    • hemochromatosis due to defect in ferroportin
Homo sapiens (human)
DOID:1350
  • paranasal sinus benign neoplasm
  • Aliases:
    • neoplasm of accessory sinus
    • tumor of Accessory sinus
Homo sapiens (human)
DOID:6498
  • seborrheic keratosis
Homo sapiens (human)
DOID:9655
  • oral mucosa leukoplakia
Homo sapiens (human)
DOID:2734
  • keratosis follicularis
  • Aliases:
    • DARIER-WHITE DISEASE
    • Darier's disease
Homo sapiens (human)
DOID:0080684
  • diffuse midline glioma, H3 K27M-mutant
  • Aliases:
    • diffuse intrinsic pontine glioma
Homo sapiens (human)
DOID:0060810
  • syndromic X-linked intellectual disability type 10
  • Aliases:
    • HSD10 deficiency, atypical type
    • HSD10 disease, atypical type
    • MRXS10
    • X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
    • mental retardation, X-linked syndromic 10
Homo sapiens (human)
DOID:0111277
  • mitochondrial trifunctional protein deficiency
  • Aliases:
    • MTPD
    • TFP deficiency
    • TFPD
Homo sapiens (human)
DOID:0070215
  • familial hyperinsulinemic hypoglycemia 4
  • Aliases:
    • HHF4
    • hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
    • hyperinsulinism due to SCHAD deficiency
    • hyperinsulinism due to glutamodehydrogenase deficiency
    • hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Homo sapiens (human)
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Last updated: February 17, 2025