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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 5476 - 5500 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0070013
  • Seckel syndrome 2
  • Aliases:
    • SCKL2
    • Seckel-type dwarfism 2
    • microcephalic primordial dwarfism 2
Homo sapiens (human)
DOID:0050804
  • glioblastoma proneural subtype
Homo sapiens (human)
DOID:4648
  • familial retinoblastoma
  • Aliases:
    • Hereditary Retinoblastoma
Homo sapiens (human)
DOID:0110912
  • leukocyte adhesion deficiency 3
  • Aliases:
    • IADD
    • LAD1 variant
    • LAD1V
    • LAD3
    • integrin activation deficiency disease
    • leukocyte adhesion deficiency 1 variant
    • leukocyte adhesion deficiency type III
Homo sapiens (human)
DOID:0111051
  • platelet-type bleeding disorder 18
  • Aliases:
    • BDPLT18
    • bleeding disorder due to CalDAG-GEFI deficiency
    • bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
Homo sapiens (human)
DOID:0060275
  • pontocerebellar hypoplasia type 6
Homo sapiens (human)
DOID:0111800
  • syndromic microphthalmia 12
  • Aliases:
    • MCOPS12
    • microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
Homo sapiens (human)
DOID:0111694
  • familial adult myoclonic epilepsy 7
  • Aliases:
    • BAFME7
    • FAME7
    • FCMTE7
    • benign adult familial myoclonic epilepsy 7
    • familial cortical myoclonic tremor and epilepsy 7
Homo sapiens (human)
DOID:0050905
  • inflammatory myofibroblastic tumor
Homo sapiens (human)
DOID:0060853
  • Potocki-Lupski syndrome
  • Aliases:
    • 17p11.2 microduplication syndrome
    • chromosome 17p11.2 duplication syndrome
    • trisomy 17p11.2
Homo sapiens (human)
DOID:0060583
  • Noonan syndrome 5
  • Aliases:
    • NS5
Homo sapiens (human)
DOID:0080549
  • Noonan syndrome with multiple lentigines 2
  • Aliases:
    • LEOPARD syndrome 2
Homo sapiens (human)
DOID:0110432
  • dilated cardiomyopathy 1NN
  • Aliases:
    • CMD1NN
Homo sapiens (human)
DOID:0111096
  • Fanconi anemia complementation group O
  • Aliases:
    • FANCO
Homo sapiens (human)
DOID:0110847
  • xeroderma pigmentosum variant type
  • Aliases:
    • XPV
    • photosensitivity with defective DNA synthesis
    • xeroderma pigmentosum with normal DNA repair rates
Saccharomyces cerevisiae S288C
DOID:0050427
  • xeroderma pigmentosum
Saccharomyces cerevisiae S288C
DOID:0050671
  • female breast cancer
Saccharomyces cerevisiae S288C
DOID:0112062
  • immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
  • Aliases:
    • IMD73C
Homo sapiens (human)
DOID:0112061
  • immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
  • Aliases:
    • IMD73B
Homo sapiens (human)
DOID:0112064
  • immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
  • Aliases:
    • IMD73A
    • neutrophil immunodeficiency syndrome
Homo sapiens (human)
DOID:0080235
  • autosomal dominant intellectual developmental disorder 48
  • Aliases:
    • autosomal dominant mental retardation 48
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: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:0081125
  • craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
Homo sapiens (human)
DOID:0081271
  • Smith-McCort dysplasia 2
Homo sapiens (human)
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Last updated: December 9, 2024