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 6001 - 6025 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:14686
  • Axenfeld-Rieger syndrome
  • Aliases:
    • Anomaly, Rieger's
    • Axenfeld syndrome
    • RGS - Rieger syndrome
    • Rieger's anomaly
Homo sapiens (human)
DOID:9074
  • systemic lupus erythematosus
  • Aliases:
    • Lupus Erythematosus, systemic
    • SLE - Lupus Erythematosus, systemic
    • disseminated lupus erythematosus
Homo sapiens (human)
DOID:3620
  • central nervous system cancer
  • Aliases:
    • CNS neoplasm
    • central nervous system tumor
    • central nervous system tumors
    • malignant neoplasm of central nervous system
    • malignant tumor of CNS
    • neoplasm of central nervous system
Homo sapiens (human)
DOID:0111037
  • glycine N-methyltransferase deficiency
  • Aliases:
    • GNMT deficiency
    • hypermethioninemia due to GNMT deficiency
    • hypermethioninemia due to glycine N-methyltransferase deficiency
Homo sapiens (human)
DOID:0111100
  • maturity-onset diabetes of the young type 2
  • Aliases:
    • MODY glucokinase-related
    • MODY type 2
    • MODY2
Homo sapiens (human)
DOID:0080472
  • developmental and epileptic encephalopathy 91
  • Aliases:
    • infantile or early childhood epileptic encephalopathy 1
Homo sapiens (human)
DOID:0070137
  • autosomal recessive cutis laxa type IIB
  • Aliases:
    • ARCL2, progeroid type
    • ARCL2B
Homo sapiens (human)
DOID:6132
  • bronchitis
  • Aliases:
    • CI - Chest infection
    • Chest infection
    • acute Bronchitis
    • chest cold
    • chronic bronchitis
    • recurrent wheezy bronchitis
Homo sapiens (human)
DOID:6543
  • acne
  • Aliases:
    • Acne varioliformis
    • acne vulgaris
    • frontalis acne
Homo sapiens (human)
DOID:0060797
  • hypomyelinating leukodystrophy 8
  • Aliases:
    • HLD8
Homo sapiens (human)
DOID:0060902
  • Norman-Roberts syndrome
  • Aliases:
    • lissencephaly 2
    • lissencephaly syndrome, Norman-Roberts type
Homo sapiens (human)
DOID:0070128
  • congenital nongoitrous hypothyroidism 6
  • Aliases:
    • CHNG6
Homo sapiens (human)
DOID:0112140
  • retinitis pigmentosa 83
  • Aliases:
    • RP83
Homo sapiens (human)
DOID:0070117
  • Meckel syndrome 3
  • Aliases:
    • MKS3
    • Meckel-Gruber syndrome, type 3
Homo sapiens (human)
DOID:0080686
  • tubular aggregate myopathy 2
Homo sapiens (human)
DOID:4449
  • macular retinal edema
  • Aliases:
    • macular edema
    • macular oedema
    • macular retinal oedema
Homo sapiens (human)
DOID:0110933
  • nemaline myopathy 11
  • Aliases:
    • NEM11
    • nemaline myopathy 11, autosomal recessive
Homo sapiens (human)
DOID:0050811
  • congenital adrenal hyperplasia
  • Aliases:
    • adrenal hyperplasia 1
    • congenital lipoid adrenal hyperplasia
    • lipoid CAH
Homo sapiens (human)
DOID:0111735
  • X-linked deafness 4
  • Aliases:
    • DFN6
    • DFNX4
    • X-linked progressive deafness 6
    • nonsyndromic sensorineural progressive deafness 6
Homo sapiens (human)
DOID:0050427
  • xeroderma pigmentosum
Homo sapiens (human)
DOID:14219
  • renal tubular acidosis
Homo sapiens (human)
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Homo sapiens (human)
DOID:1967
  • leiomyosarcoma
  • Aliases:
    • Leiomyosarcomas
Homo sapiens (human)
DOID:8970
  • subacute sclerosing panencephalitis
  • Aliases:
    • Immunosuppressive measles encephalitis
    • Van Bogaert's sclerosing leukoencephalitis
    • subacute sclerosing leukoencephalopathy
Homo sapiens (human)
DOID:0080281
  • schizophrenia 19
Homo sapiens (human)

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Last updated: December 9, 2024