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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 5276 - 5300 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0111581
  • C syndrome
  • Aliases:
    • OTCS
    • Opitz C trigonocephaly
    • Opitz trigonocephaly C syndrome
    • Opitz trigonocephaly syndrome
    • trigonocephaly C syndrome
Homo sapiens (human)
DOID:0110826
  • Usher syndrome type 1
  • Aliases:
    • US1
    • USH1
Homo sapiens (human)
DOID:0111952
  • immunodeficiency 57
  • Aliases:
    • IMD57
    • immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
    • immunodeficiency 57 with autoinflammation
Homo sapiens (human)
DOID:10811
  • nasal cavity cancer
  • Aliases:
    • malignant neoplasm of nasal cavities
    • malignant tumor of the nasal cavity
Homo sapiens (human)
DOID:0110918
  • hereditary spherocytosis type 3
  • Aliases:
    • HS3
    • SPH3
    • hereditary spherocytosis 3
Homo sapiens (human)
DOID:7319
  • axonal neuropathy
Homo sapiens (human)
DOID:0110192
  • Charcot-Marie-Tooth disease type 4H
  • Aliases:
    • CMT4H
    • Charcot-Marie-Tooth neuropathy type 4H
    • autosomal recessive Charcot-Marie-Tooth disease type 4H
    • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H
Homo sapiens (human)
DOID:0111789
  • Frank-Ter Haar syndrome
  • Aliases:
    • Borrone dermatocardioskeletal syndrome
    • FTHS
    • Ter Haar syndrome
    • autosomal recessive Melnick-Needles syndrome
    • megalocornea, multiple skeletal anomalies, and developmental delay
Homo sapiens (human)
DOID:0112106
  • chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
  • Aliases:
    • X-linked dominant chondrodysplasia, Chassaing-Lacombe type
    • X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
Homo sapiens (human)
DOID:0110277
  • autosomal recessive limb-girdle muscular dystrophy type 2C
  • Aliases:
    • DMDA1
    • LGMD2C
    • Maghrebian myopathy
    • SCARMD
    • autosomal recessive Duchenne-like muscular dystrophy type 1
    • deficiency of sarcoglycan gamma
    • gamma-sarcoglycanopathy
    • limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
    • muscular dystrophy, limb-girdle, type 2C
    • severe childhood autosomal recessive muscular dystrophy North African type
Homo sapiens (human)
DOID:0080547
  • metabolic dysfunction-associated steatohepatitis
  • Aliases:
    • MASH
    • NASH
    • non-alcoholic steatohepatitis
    • nonalcoholic steatohepatitis
Homo sapiens (human)
DOID:5022
  • aflatoxins-related hepatocellular carcinoma
Homo sapiens (human)
DOID:540
  • strabismus
Homo sapiens (human)
DOID:0111996
  • immunodeficiency 51
  • Aliases:
    • CANDF5
    • IMD51
    • familial candidiasis 5
Homo sapiens (human)
DOID:0080109
  • infantile myofibromatosis
  • Aliases:
    • lipofibromatosis
Homo sapiens (human)
DOID:0111451
  • progressive myoclonus epilepsy 8
  • Aliases:
    • EMP8
    • PME type 8
    • progressive myoclonic epilepsy due to CERS1 deficiency
    • progressive myoclonus epilepsy type 8
Homo sapiens (human)
DOID:3495
  • extrahepatic bile duct adenocarcinoma
  • Aliases:
    • adenocarcinoma of extrahepatic bile duct
Homo sapiens (human)
DOID:0080325
  • tuberous sclerosis 2
Homo sapiens (human)
DOID:0080697
  • Opitz GBBB syndrome
  • Aliases:
    • Opitz G/BBB Syndrome
    • Opitz GBBB syndrome type I
Homo sapiens (human)
DOID:0080499
  • ovarian dysgenesis 7
Homo sapiens (human)
DOID:1936
  • atherosclerosis
Homo sapiens (human)
DOID:0050471
  • Carney complex
  • Aliases:
    • Carney Complex, Type 1
    • Carney Complex, Type 2
    • Carney Syndrome
    • Carney complex variant
    • LAMB Syndrome
    • NAME Syndrome
Homo sapiens (human)
DOID:0080585
  • Van Maldergem syndrome 1
Homo sapiens (human)
DOID:4226
  • endometrial stromal sarcoma
  • Aliases:
    • ESS
    • Undifferentiated endometrial sarcoma
    • endometrial stromal sarcoma, high grade
Homo sapiens (human)
DOID:896
  • metal metabolism disorder
  • Aliases:
    • inborn metal metabolism disorder
Homo sapiens (human)
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Last updated: December 9, 2024