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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 6876 - 6900 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0110777
  • hereditary spastic paraplegia 26
  • Aliases:
    • GM2 synthase deficiency
    • SPG26
    • autosomal recessive spastic paraplegia 26
    • autosomal recessive spastic paraplegia type 26
Homo sapiens (human)
DOID:0060611
  • abdominal obesity-metabolic syndrome
Homo sapiens (human)
DOID:12148
  • alveolar echinococcosis
  • Aliases:
    • Multilocular hydatid
    • alveolococcosis
    • small fox tapeworm
Homo sapiens (human)
DOID:8717
  • decubitus ulcer
  • Aliases:
    • Decubitus (pressure) ulcer
    • Decubitus ulcer any site
    • pressure sores
    • pressure ulcer
Homo sapiens (human)
DOID:13910
  • red color blindness
  • Aliases:
    • Protan defect
    • Protanopia
Homo sapiens (human)
DOID:0111787
  • frontometaphyseal dysplasia 2
  • Aliases:
    • FMD2
Homo sapiens (human)
DOID:0111972
  • immunodeficiency 19
  • Aliases:
    • CD3-delta deficiency
    • IMD19
    • SCID T cell-negative, B cell-positive, NK cell-positive
    • severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive
Homo sapiens (human)
DOID:8923
  • skin melanoma
  • Aliases:
    • cutaneous melanoma
    • malignant ear melanoma
    • malignant lip melanoma
    • malignant lower limb melanoma
    • malignant melanoma of ear and/or external auricular canal
    • malignant melanoma of skin of lower limb
    • malignant melanoma of skin of trunk except scrotum
    • malignant melanoma of skin of upper limb
    • malignant neck melanoma
    • malignant scalp melanoma
    • malignant trunk melanoma
    • malignant upper limb melanoma
Homo sapiens (human)
DOID:0111822
  • CHILD syndrome
  • Aliases:
    • CHILD nevus
    • congenital hemidysplasia with ichthyosiform nevus and limbs defects
Homo sapiens (human)
DOID:0110070
  • arrhythmogenic right ventricular dysplasia 1
  • Aliases:
    • ARVC1
    • Uhl anomaly
    • arrhythmogenic right ventricular cardiomyopathy 1
Homo sapiens (human)
DOID:0080250
  • erythrokeratodermia variabilis et progressiva 4
Homo sapiens (human)
DOID:0081157
  • dilated cardiomyopathy 1LL
Homo sapiens (human)
DOID:0111042
  • glycogen storage disease IXa
  • Aliases:
    • GSD type 9A
    • GSD type IXa
    • GSD9A
    • glycogen storage disease type 9A
    • glycogen storage disease type IXa
    • glycogenosis type 9A
    • glycogenosis type IXa
Homo sapiens (human)
DOID:0110958
  • Gaucher's disease type II
  • Aliases:
    • GD II
    • GD2
    • Gaucher Disease, Acute Neuronopathic Type
    • Infantile Cerebral Gaucher Disease
Homo sapiens (human)
DOID:0111898
  • CK syndrome
  • Aliases:
    • X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
Homo sapiens (human)
DOID:4239
  • alveolar soft part sarcoma
Homo sapiens (human)
DOID:0111128
  • focal segmental glomerulosclerosis 1
  • Aliases:
    • FSGS1
Homo sapiens (human)
DOID:0111676
  • high molecular weight kininogen deficiency
  • Aliases:
    • Fitzgerald trait
    • HMWK deficiency
    • congenital high-molecular-weight kininogen deficiency
Homo sapiens (human)
DOID:0112180
  • urocanase deficiency
  • Aliases:
    • UROCD
    • encephalopathy due to urocanase deficiency
    • high urine urocanic acid levels
    • urocanate hydratase deficiency
    • urocanic aciduria
Homo sapiens (human)
DOID:12700
  • hyperprolactinemia
  • Aliases:
    • Chiari-Frommel syndrome
    • Pregnancy-related A-G syndrome
    • hyperprolactinaemia
Homo sapiens (human)
DOID:0070254
  • congenital disorder of glycosylation type IIb
  • Aliases:
    • CDG IIb
    • CDG2B
    • CDGIIb
    • glucosidase I deficiency
Homo sapiens (human)
DOID:0080463
  • developmental and epileptic encephalopathy 33
  • Aliases:
    • DEE33
    • early infantile epileptic encephalopathy 33
Homo sapiens (human)
DOID:0110196
  • Charcot-Marie-Tooth disease type 4G
  • Aliases:
    • CMT4G
    • Charcot-Marie-Tooth neuropathy type 4G
    • HMSNR
    • autosomal recessive Charcot-Marie-Tooth disease type 4G
    • hereditary motor and sensory neuropathy Russe type
Homo sapiens (human)
DOID:0070255
  • congenital disorder of glycosylation type IIc
  • Aliases:
    • CDG IIc
    • CDG2C
    • CDGIIc
    • Rambam-Hasharon syndrome
Homo sapiens (human)
DOID:1584
  • acute chest syndrome
  • Aliases:
    • acute chest syndrome in sickle cell disease
Homo sapiens (human)
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Last updated: December 9, 2024