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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 10576 - 10600 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0090125
  • brain small vessel disease 1
  • Aliases:
    • BSVD1
    • COL4A1-related brain small vessel disease with hemorrhage
    • COL4A1-related familial vascular leukoencephalopathy
    • COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
    • autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy
    • brain small vessel disease with Axenfeld-Riegar anomaly
    • brain small vessel disease with hemorrhage
    • brain small vessel disease with or without ocular anomalies
    • infantile hemiparesis
    • leukoencephalopathy with Axenfeld-Riegar anomaly
Mus musculus (house mouse)
DOID:0090124
  • neurogenic-type arthrogryposis multiplex congenita-2
  • Aliases:
    • AMC neurogenic type
    • AMC2
    • AMCN
    • arthrogryposis multiplex congenita 2, neurogenic type
    • arthrogryposis multiplex congenita neurogenic type
Xenopus laevis (African clawed frog)
DOID:0090124
  • neurogenic-type arthrogryposis multiplex congenita-2
  • Aliases:
    • AMC neurogenic type
    • AMC2
    • AMCN
    • arthrogryposis multiplex congenita 2, neurogenic type
    • arthrogryposis multiplex congenita neurogenic type
Homo sapiens (human)
DOID:0090124
  • neurogenic-type arthrogryposis multiplex congenita-2
  • Aliases:
    • AMC neurogenic type
    • AMC2
    • AMCN
    • arthrogryposis multiplex congenita 2, neurogenic type
    • arthrogryposis multiplex congenita neurogenic type
Mus musculus (house mouse)
DOID:0090124
  • neurogenic-type arthrogryposis multiplex congenita-2
  • Aliases:
    • AMC neurogenic type
    • AMC2
    • AMCN
    • arthrogryposis multiplex congenita 2, neurogenic type
    • arthrogryposis multiplex congenita neurogenic type
Danio rerio (zebrafish)
DOID:0090122
  • aromatase excess syndrome
  • Aliases:
    • AEXS
    • familial hyperestrogenism
    • hereditary prepubertal gynecomastia
    • increased aromatase activity
Homo sapiens (human)
DOID:0090120
  • hereditary neutrophilia
Homo sapiens (human)
DOID:0090120
  • hereditary neutrophilia
Mus musculus (house mouse)
DOID:0090118
  • congenital amegakaryocytic thrombocytopenia
  • Aliases:
    • CAMT
    • congenital amegakaryocytic thrombocytopenic purpura
Homo sapiens (human)
DOID:0090118
  • congenital amegakaryocytic thrombocytopenia
  • Aliases:
    • CAMT
    • congenital amegakaryocytic thrombocytopenic purpura
Mus musculus (house mouse)
DOID:0090117
  • thiamine-responsive megaloblastic anemia syndrome
  • Aliases:
    • Rogers syndrome
    • THMD1
    • TRMA
    • thiamine metabolism dysfunction syndrome 1
    • thiamine-responsive anaemia syndrome
    • thiamine-responsive anemia syndrome
    • thiamine-responsive megaloblastic anaemia syndrome
    • thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness
    • thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
    • thiamine-responsive myelodysplasia
Caenorhabditis elegans
DOID:0090117
  • thiamine-responsive megaloblastic anemia syndrome
  • Aliases:
    • Rogers syndrome
    • THMD1
    • TRMA
    • thiamine metabolism dysfunction syndrome 1
    • thiamine-responsive anaemia syndrome
    • thiamine-responsive anemia syndrome
    • thiamine-responsive megaloblastic anaemia syndrome
    • thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness
    • thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
    • thiamine-responsive myelodysplasia
Mus musculus (house mouse)
DOID:0090117
  • thiamine-responsive megaloblastic anemia syndrome
  • Aliases:
    • Rogers syndrome
    • THMD1
    • TRMA
    • thiamine metabolism dysfunction syndrome 1
    • thiamine-responsive anaemia syndrome
    • thiamine-responsive anemia syndrome
    • thiamine-responsive megaloblastic anaemia syndrome
    • thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness
    • thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
    • thiamine-responsive myelodysplasia
Homo sapiens (human)
DOID:0090116
  • spondylocarpotarsal synostosis syndrome
  • Aliases:
    • SCT
    • congenital scoliosis with unilateral unsegmented bar
    • congenital synspondylism
    • spondylocarpotarsal syndrome
    • spondylocarpotarsal synostosis
    • vertebral fusion with carpal coalition
Mus musculus (house mouse)
DOID:0090116
  • spondylocarpotarsal synostosis syndrome
  • Aliases:
    • SCT
    • congenital scoliosis with unilateral unsegmented bar
    • congenital synspondylism
    • spondylocarpotarsal syndrome
    • spondylocarpotarsal synostosis
    • vertebral fusion with carpal coalition
Homo sapiens (human)
DOID:0090115
  • spinocerebellar ataxia with axonal neuropathy 1
  • Aliases:
    • SCAN1
    • autosomal recessive spinocerebellar ataxia with axonal neuropathy 1
    • spinocerebellar ataxia with axonal neuropathy type 1
Homo sapiens (human)
DOID:0090114
  • Sorsby's fundus dystrophy
  • Aliases:
    • SFD
    • hemorrhagic macular dystrophy
    • pseudoinflammatory fundus dystrophy of Sorsby
Mus musculus (house mouse)
DOID:0090114
  • Sorsby's fundus dystrophy
  • Aliases:
    • SFD
    • hemorrhagic macular dystrophy
    • pseudoinflammatory fundus dystrophy of Sorsby
Caenorhabditis elegans
DOID:0090114
  • Sorsby's fundus dystrophy
  • Aliases:
    • SFD
    • hemorrhagic macular dystrophy
    • pseudoinflammatory fundus dystrophy of Sorsby
Homo sapiens (human)
DOID:0090113
  • RIDDLE syndrome
  • Aliases:
    • RNF168 deficiency
    • Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
Homo sapiens (human)
DOID:0090111
  • PCWH syndrome
  • Aliases:
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Xenopus tropicalis (tropical clawed frog)
DOID:0090111
  • PCWH syndrome
  • Aliases:
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Rattus norvegicus (Norway rat)
DOID:0090111
  • PCWH syndrome
  • Aliases:
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Mus musculus (house mouse)
DOID:0090111
  • PCWH syndrome
  • Aliases:
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Homo sapiens (human)
DOID:0090110
  • immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • Aliases:
    • Autoimmune enteropathy type 1
    • DMSD
    • IDDM-secretory diarrhea syndrome
    • IPEX
    • X-linked autoimmunity-allergic dysregulation syndrome
    • XLAAD
    • XPID
    • autoimmunity-immunodeficiency syndrome, X-linked
    • diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
    • diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked
    • immunodeficiency, polyendocrinopathy, and enteropathy, X-linked
    • immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked
Mus musculus (house mouse)
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Last updated: December 9, 2024