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 3876 - 3900 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:0060679
  • catecholaminergic polymorphic ventricular tachycardia 5
  • Aliases:
    • CVPT5
Homo sapiens (human)
DOID:3857
  • large cell medulloblastoma
  • Aliases:
    • Anaplastic medulloblastoma
Homo sapiens (human)
DOID:0111087
  • Fanconi anemia complementation group C
  • Aliases:
    • FA3
    • FACC
    • FANCC
    • Fanconi pancytopenia type 3
Homo sapiens (human)
DOID:0050681
  • Borjeson-Forssman-Lehmann syndrome
  • Aliases:
    • BFLS
    • BORJ
    • Borjeson syndrome
    • MRXSBFL
    • intellectual deficiency-epilepsy-endocrine disorders syndrome
    • mental retardation, epilepsy, and endocrine disorder
    • syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
Homo sapiens (human)
DOID:1245
  • vulva cancer
  • Aliases:
    • Ca vulva
    • Vulvar tumor
    • malignant Vulvar tumor
    • malignant neoplasm of vulva
    • malignant tumor of vulva
    • neoplasm of vulva
    • vulval cancer
    • vulval neoplasm
    • vulvar neoplasm
Homo sapiens (human)
DOID:10211
  • cholelithiasis
Homo sapiens (human)
DOID:2862
  • glucosephosphate dehydrogenase deficiency
  • Aliases:
    • Glucose-6-phosphate dehydrogenase deficiency
    • deficiency of G-6PD
Homo sapiens (human)
DOID:297
  • pleomorphic adenoma carcinoma
  • Aliases:
    • carcinoma ex pleomorphic adenoma
    • carcinoma in pleomorphic adenoma
Homo sapiens (human)
DOID:5485
  • synovial sarcoma
Homo sapiens (human)
DOID:0112379
  • muscular dystrophy-dystroglycanopathy type B4
  • Aliases:
    • MDDGB4
    • congenital muscular dystrophy FKTN-related
Homo sapiens (human)
DOID:0060451
  • Meesmann corneal dystrophy
  • Aliases:
    • MECD
    • Stocker-Holt dystrophy
    • juvenile hereditary epithelial dystrophy
Homo sapiens (human)
DOID:0110237
  • cataract 42
  • Aliases:
    • CTRCT42
Homo sapiens (human)
DOID:10611
  • protein-losing enteropathy
  • Aliases:
    • Enteropathy, exudative
    • Exudative enteropathy
Homo sapiens (human)
DOID:0110852
  • rhizomelic chondrodysplasia punctata type 2
  • Aliases:
    • Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Dhapat Deficiency
    • Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Glyceronephosphate O-Acyltransferase Deficiency
    • Gnpat Deficiency
    • Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Rcdp2
Homo sapiens (human)
DOID:9854
  • lingual-facial-buccal dyskinesia
  • Aliases:
    • Oro-facial dyskinesia
Homo sapiens (human)
DOID:7998
  • hyperthyroidism
  • Aliases:
    • overactive thyroid
Homo sapiens (human)
DOID:12148
  • alveolar echinococcosis
  • Aliases:
    • Multilocular hydatid
    • alveolococcosis
    • small fox tapeworm
Homo sapiens (human)
DOID:0110030
  • alpha thalassemia-X-linked intellectual disability syndrome
  • Aliases:
    • ATR, nondeletion type
    • ATR-X syndrome
    • alpha-thalassemia/mental retardation syndrome nondeletion type
Homo sapiens (human)
DOID:2600
  • laryngeal carcinoma
  • Aliases:
    • cancer of larynx
    • carcinoma of larynx
Homo sapiens (human)
DOID:14499
  • Fabry disease
  • Aliases:
    • Alpha-galactosidase A deficiency
    • Angiokeratoma Corporis Diffusum
    • Fabry Disease, Cardiac Variant
    • Fabry's disease
    • alpha galactosidase deficiency
    • deficiency of melibiase
Homo sapiens (human)
DOID:0050689
  • brachydactyly-syndactyly syndrome
Homo sapiens (human)
DOID:0111218
  • Friedreich ataxia 1
  • Aliases:
    • FA1
    • FRDA1
Homo sapiens (human)
DOID:870
  • neuropathy
  • Aliases:
    • peripheral neuropathy
Homo sapiens (human)
DOID:640
  • encephalomyelitis
  • Aliases:
    • Encephalitis &/or myelitis
Homo sapiens (human)
DOID:0110173
  • Charcot-Marie-Tooth disease axonal type 2U
  • Aliases:
    • CMT2U
    • Charcot-Marie-Tooth neuropathy type 2U
    • autosomal dominant Charcot-Marie-Tooth disease type 2U
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2U
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024