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 6276 - 6300 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:0110156
  • Charcot-Marie-Tooth disease type 2B1
  • Aliases:
    • CMT2B1
    • Charcot-Marie-Tooth disease neuronal type 2B1
    • Charcot-Marie-Tooth neuropathy type 2B1
    • autosomal recessive Charcot-Marie-Tooth disease type 2B1
    • autosomal recessive axonal CMT4C1
    • autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
Homo sapiens (human)
DOID:4964
  • neurotic disorder
  • Aliases:
    • Neurotic depression reactive type
    • Neurotic depressive state
    • Psychoneurosis
    • depressive neurosis
    • neurosis
    • neurotic depression
    • reactive depression
Homo sapiens (human)
DOID:0090130
  • cortical dysplasia-focal epilepsy syndrome
  • Aliases:
    • CDFE syndrome
    • CDFES
    • PTHSL1
    • Pitt-Hopkins-like syndrome-1
Homo sapiens (human)
DOID:11339
  • pneumocystosis
  • Aliases:
    • Pneumocystis carinii pneumonia
    • Pneumocystis jirovecii pneumonia
    • Pneumocystis pneumonia
    • Pneumocystosis pneumonia
    • pulmonary pneumocystosis
Homo sapiens (human)
DOID:0080952
  • AMED syndrome
  • Aliases:
    • AMEDS
Homo sapiens (human)
DOID:1209
  • nutritional optic neuropathy
Homo sapiens (human)
DOID:4501
  • orofaciodigital syndrome
  • Aliases:
    • oral-facial-digital syndrome
Homo sapiens (human)
DOID:2768
  • transient tic disorder
Homo sapiens (human)
DOID:3372
  • chondroblastic osteosarcoma
  • Aliases:
    • chondrosarcomatous Osteogenic sarcoma
Homo sapiens (human)
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Homo sapiens (human)
DOID:0110164
  • Charcot-Marie-Tooth disease type 2D
  • Aliases:
    • CMT2D
    • Charcot-Marie-Tooth disease neuronal type 2D
    • Charcot-Marie-Tooth neuropathy type 2D
    • autosomal dominant Charcot-Marie-Tooth disease type 2D
Homo sapiens (human)
DOID:3978
  • extrinsic cardiomyopathy
Homo sapiens (human)
DOID:2600
  • laryngeal carcinoma
  • Aliases:
    • cancer of larynx
    • carcinoma of larynx
Homo sapiens (human)
DOID:0060263
  • porencephaly
Homo sapiens (human)
DOID:0110136
  • Bardet-Biedl syndrome 14
  • Aliases:
    • BBS14
Homo sapiens (human)
DOID:0110551
  • autosomal dominant nonsyndromic deafness 21
  • Aliases:
    • DFNA21
    • autosomal dominant deafness 21
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:0050678
  • Blau syndrome
  • Aliases:
    • ARTHROCUTANEOUVEAL GRANULOMATOSIS
    • BLAUS
    • Jabs syndrome
Homo sapiens (human)
DOID:0110553
  • autosomal dominant nonsyndromic deafness 23
  • Aliases:
    • DFNA23
    • autosomal dominant deafness 23
Homo sapiens (human)
DOID:4927
  • Klatskin's tumor
  • Aliases:
    • Klatskin tumor
    • Klatskin tumour
    • Klatskin's tumour
    • Perihilar extrahepatic bile duct carcinoma
    • hilar cholangiocarcinoma
    • hilar cholangiocellular carcinoma
Homo sapiens (human)
DOID:10935
  • dissociative disorder
  • Aliases:
    • dissociative disease
    • dissociative reaction
Homo sapiens (human)
DOID:0110504
  • autosomal recessive nonsyndromic deafness 47
  • Aliases:
    • DFNB47
    • autosomal recessive deafness 47
Homo sapiens (human)
DOID:5850
  • inferior myocardial infarction
Homo sapiens (human)
DOID:12783
  • migraine without aura
  • Aliases:
    • common migraine
Homo sapiens (human)
DOID:0060783
  • ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
  • Aliases:
    • EEC syndrome 3
    • EEC3
Homo sapiens (human)

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Last updated: August 19, 2024