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 4226 - 4250 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0111192
  • facioscapulohumeral muscular dystrophy 1
  • Aliases:
    • FSHD1
    • facioscapulohumeral muscular dystrophy type 1
    • facioscapulohumeral muscular dystrophy type 1A
Homo sapiens (human)
DOID:10609
  • rickets
  • Aliases:
    • active rickets
Homo sapiens (human)
DOID:5672
  • large intestine cancer
Homo sapiens (human)
DOID:0111395
  • mucopolysaccharidosis type IIIA
  • Aliases:
    • MPS3A
    • MPSIIIA
    • Sanfilippo syndrome type A
    • heparan sulfamidase deficiency
    • mucopolysaccharidosis III-A
    • mucopolysaccharidosis type 3A
    • mucopolysaccharidosis type IIIA (Sanfilippo A)
Homo sapiens (human)
DOID:0110806
  • hereditary spastic paraplegia 54
  • Aliases:
    • SPG54
    • autosomal recessive spastic paraplegia 54
    • autosomal recessive spastic paraplegia type 54
Homo sapiens (human)
DOID:1588
  • thrombocytopenia
Homo sapiens (human)
DOID:399
  • tuberculosis
Homo sapiens (human)
DOID:0112182
  • mismatch repair cancer syndrome
  • Aliases:
    • BTP1 syndrome
    • BTPS1
    • CMMR-D syndrome
    • CMMRDS
    • MMR deficiency
    • Turcot syndrome
    • brain tumor-polyposis syndrome 1
    • childhood cancer syndrome
    • constitutional mismatch repair deficiency syndrome
Homo sapiens (human)
DOID:479
  • angiokeratoma
  • Aliases:
    • Angiokeratoma of skin
    • Cutaneous Angiokeratoma
    • skin angiokeratoma
Homo sapiens (human)
DOID:0112313
  • brain small vessel disease
Homo sapiens (human)
DOID:0111051
  • platelet-type bleeding disorder 18
  • Aliases:
    • BDPLT18
    • bleeding disorder due to CalDAG-GEFI deficiency
    • bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
Homo sapiens (human)
DOID:1924
  • hypogonadism
Homo sapiens (human)
DOID:0110785
  • hereditary spastic paraplegia 34
  • Aliases:
    • SPG34
    • X-linked spastic paraplegia 34
    • X-linked spastic paraplegia type 34
Homo sapiens (human)
DOID:5810
  • adenosine deaminase deficiency
  • Aliases:
    • ADA
Homo sapiens (human)
DOID:12550
  • hepatic coma
  • Aliases:
    • Hepatocerebral intoxication
Homo sapiens (human)
DOID:9767
  • myocardial stunning
Homo sapiens (human)
DOID:117
  • heart cancer
  • Aliases:
    • Cardiac tumor
    • Tumour of heart
    • malignant Cardiac tumor
    • malignant neoplasm of heart
Homo sapiens (human)
DOID:0080501
  • GM1 gangliosidosis type 2
  • Aliases:
    • juvenile GM1 gangliosidosis
Homo sapiens (human)
DOID:0111673
  • Saul-Wilson syndrome
  • Aliases:
    • SWILS
    • microcephalic osteodysplastic dysplasia, Saul-Wilson type
Homo sapiens (human)
DOID:2303
  • stereotypic movement disorder
  • Aliases:
    • Stereotyped repetitive movements
    • Stereotypy habit disorder
Homo sapiens (human)
DOID:1036
  • chronic leukemia
Homo sapiens (human)
DOID:7827
  • adult extraosseous osteosarcoma
Homo sapiens (human)
DOID:0050469
  • Costello syndrome
  • Aliases:
    • FCS SYNDROME
    • Faciocutaneoskeletal Syndrome
Homo sapiens (human)
DOID:13208
  • background diabetic retinopathy
  • Aliases:
    • Non proliferative diabetic retinopathy
    • Non-Proliferative Diabetic Retinopathy
Homo sapiens (human)
DOID:7008
  • protoplasmic astrocytoma
  • Aliases:
    • Protoplasmic Astrocytic tumor
Homo sapiens (human)

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024