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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 14426 - 14450 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0070395
  • developmental and epileptic encephalopathy 110
  • Aliases:
    • DEE110
    • early infantile epileptic encephalopathy 110
Homo sapiens (human)
DOID:0110221
  • Brugada syndrome 4
  • Aliases:
    • BRGDA4
Homo sapiens (human)
DOID:0080612
  • anterior segment dysgenesis 7
Homo sapiens (human)
DOID:0050473
  • Alstrom syndrome
Homo sapiens (human)
DOID:0070254
  • congenital disorder of glycosylation type IIb
  • Aliases:
    • CDG IIb
    • CDG2B
    • CDGIIb
    • glucosidase I deficiency
Homo sapiens (human)
DOID:2490
  • congenital nervous system abnormality
  • Aliases:
    • congenital neurologic anomaly
Homo sapiens (human)
DOID:0070124
  • congenital nongoitrous hypothyroidism 2
  • Aliases:
    • CHNG2
    • congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
Homo sapiens (human)
DOID:0050686
  • organ system cancer
Homo sapiens (human)
DOID:0060591
  • WHIM syndrome
  • Aliases:
    • WHIMS
    • warts, hypogammaglobulinemia, infections, and myelokathexis
    • warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Homo sapiens (human)
DOID:0050539
  • Charcot-Marie-Tooth disease type 2
  • Aliases:
    • hereditary motor and sensory neuropathy Guadalajara neuronal type
    • hereditary motor and sensory neuropathy Okinawa type
    • hereditary motor and sensory neuropathy type 2
Homo sapiens (human)
DOID:0110159
  • Charcot-Marie-Tooth disease type 2B
  • Aliases:
    • CMT2B
    • Charcot-Marie-Tooth neuropathy type 2B
    • HMSN IIB
    • HMSN2B
    • autosomal dominant Charcot-Marie-Tooth disease type 2B
    • hereditary motor and sensory nueropathy IIB
Homo sapiens (human)
DOID:13929
  • lacrimal duct obstruction
  • Aliases:
    • Blocked lacrimal canaliculus
    • Obstruction of lacrimal canaliculus
    • Obstruction of lacrimal ducts
Mus musculus (house mouse)
DOID:0080140
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
  • Aliases:
    • M syndrome
    • light fixation seizure syndrome
Mus musculus (house mouse)
DOID:8557
  • oropharynx cancer
  • Aliases:
    • Oropharyngeal carcinoma
    • malignant Oropharyngeal tumor
    • malignant tumor of oropharynx
    • malignant tumour of mesopharynx
    • oropharyngeal cancer
Mus musculus (house mouse)
DOID:0070254
  • congenital disorder of glycosylation type IIb
  • Aliases:
    • CDG IIb
    • CDG2B
    • CDGIIb
    • glucosidase I deficiency
Rattus norvegicus (Norway rat)
DOID:9240
  • erythromelalgia
  • Aliases:
    • erythermalgia
Rattus norvegicus (Norway rat)
DOID:0111537
  • paroxysmal extreme pain disorder
  • Aliases:
    • PEPD
    • PEXPD
    • familial rectal pain
    • submandibular, ocular and rectal pain with flushing
Rattus norvegicus (Norway rat)
DOID:0110193
  • Charcot-Marie-Tooth disease type 4F
  • Aliases:
    • CMT4F
Rattus norvegicus (Norway rat)
DOID:0090074
  • hypogonadotropic hypogonadism 8 with or without anosmia
Rattus norvegicus (Norway rat)
DOID:0112310
  • central precocious puberty 1
  • Aliases:
    • CPPB1
Rattus norvegicus (Norway rat)
DOID:0060576
  • 3MC syndrome 2
Homo sapiens (human)
DOID:0080419
  • developmental and epileptic encephalopathy 50
  • Aliases:
    • CDG syndrome type Iz
    • CDG-Iz
    • Carbohydrate deficient glycoprotein syndrome type Iz
    • Congenital disorder of glycosylation type 1z
    • DEE50
    • early infantile epileptic encephalopathy 50
Homo sapiens (human)
DOID:50
  • thyroid gland disease
Homo sapiens (human)
DOID:0080560
  • congenital disorder of glycosylation Ih
  • Aliases:
    • congenital disorder of glycosylation 1h
Homo sapiens (human)
DOID:4239
  • alveolar soft part sarcoma
Homo sapiens (human)
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Last updated: December 9, 2024