GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2676 - 2700 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0070152
  • hereditary sensory and autonomic neuropathy type 1A
  • Aliases:
    • HSAN1A
    • hereditary sensory and autonomic neuropathy type IA
Homo sapiens (human)
DOID:0050548
  • hereditary sensory neuropathy
  • Aliases:
    • familial dysautonomia, type II
    • hereditary sensory and autonomic neuropathy
Homo sapiens (human)
DOID:0070162
  • hereditary sensory and autonomic neuropathy type 1
  • Aliases:
    • HSAN1
    • hereditary sensory and autonomic neuropathy type I
Homo sapiens (human)
DOID:2491
  • sensory peripheral neuropathy
  • Aliases:
    • peripheral Sensory Neuropathy
    • sensory neuropathy
Homo sapiens (human)
DOID:0111350
  • Laurin-Sandrow syndrome
  • Aliases:
    • MIPduplication of fibuland ulna with absence of tibia and radius
    • Sandrow syndrome
    • TMIP
    • miccor hands and feet with nasal defects
    • mirror hands and feets-nasal defects syndrome
    • mirror-image polydactyly
    • tetramelic mirror-image polydactyly
Homo sapiens (human)
DOID:0070313
  • thiamine deficiency disease
Homo sapiens (human)
DOID:13725
  • beriberi
Homo sapiens (human)
DOID:2977
  • primary hyperoxaluria
Homo sapiens (human)
DOID:13533
  • osteopetrosis
  • Aliases:
    • Albers-Schonberg disease
    • marble bone
Homo sapiens (human)
DOID:4254
  • osteosclerosis
Homo sapiens (human)
DOID:0110946
  • autosomal recessive osteopetrosis 7
  • Aliases:
    • OPTB7
    • autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
    • autosomal recessive osteopetrosis type 7
    • osteoclast-poor osteopetrosis with hypogammaglobulinemia
    • osteopetrosis-hypogammaglobulinemia syndrome
Homo sapiens (human)
DOID:10575
  • calcium metabolism disease
Homo sapiens (human)
DOID:182
  • calcinosis
  • Aliases:
    • Pathologically calcified structure
    • pathologic calcification
Homo sapiens (human)
DOID:0110657
  • congenital myasthenic syndrome 8
  • Aliases:
    • CMS8
    • congenital myasthenic syndrome 8 with pre- and postsynaptic defects
    • congenital myasthenic syndrome due to agrin deficiency
Homo sapiens (human)
DOID:0110668
  • congenital myasthenic syndrome 10
  • Aliases:
    • CMS10
    • LGM
    • congenital muscular dystrophy merosin-positive
    • familial limb-girdle myasthenia
Homo sapiens (human)
DOID:0111377
  • fetal akinesia deformation sequence syndrome 1
  • Aliases:
    • FADS1
Homo sapiens (human)
DOID:0111375
  • fetal akinesia deformation sequence syndrome
  • Aliases:
    • FADS
    • Pena-Shokeir syndrome type 1
    • arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
    • fetal akinesia sequence
    • foetal akinesia deformation sequence syndrome
    • foetal akinesia sequence
Homo sapiens (human)
DOID:681
  • progressive bulbar palsy
Homo sapiens (human)
DOID:10293
  • monocular esotropia
Homo sapiens (human)
DOID:9840
  • esotropia
  • Aliases:
    • Convergence in manifest squint
    • Internal Strabismus
    • crossed eyes
Homo sapiens (human)
DOID:8488
  • polyhydramnios
Homo sapiens (human)
DOID:9220
  • central sleep apnea
  • Aliases:
    • primary central sleep apnea
Homo sapiens (human)
DOID:3818
  • photoallergic dermatitis
  • Aliases:
    • Photoallergic contact dermatitis
    • Photoallergic eczema
Homo sapiens (human)
DOID:2580
  • rhizomelic chondrodysplasia punctata
  • Aliases:
    • Chondrodysplasia Punctata, Rhizomelic Form
Homo sapiens (human)
DOID:0110853
  • rhizomelic chondrodysplasia punctata type 3
  • Aliases:
    • Agps Deficiency
    • Alkyldihydroxyacetonephosphate Synthase Deficiency
    • Alkylglycerone-Phosphate Synthase Deficiency
    • Rcdp3
Homo sapiens (human)

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Last updated: August 19, 2024