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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 8401 - 8425 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0112128
  • X-linked severe congenital neutropenia
  • Aliases:
    • SCNX
    • XLN
Saccharomyces cerevisiae S288C
DOID:0112129
  • severe congenital neutropenia 7
  • Aliases:
    • SCN7
    • autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Mus musculus (house mouse)
DOID:0112129
  • severe congenital neutropenia 7
  • Aliases:
    • SCN7
    • autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Homo sapiens (human)
DOID:0112133
  • severe congenital neutropenia 3
  • Aliases:
    • Kostmann disease
    • Kostmann syndrome
    • SCN3
    • infantile agranulocytosis
Homo sapiens (human)
DOID:0112135
  • severe congenital neutropenia 8
  • Aliases:
    • SCN8
    • SDSL
    • Shwachman-Diamond syndrome-like
    • autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities
Homo sapiens (human)
DOID:0112136
  • severe congenital neutropenia 4
  • Aliases:
    • Dursun syndrome
    • SCN4
    • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
    • severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Homo sapiens (human)
DOID:0112136
  • severe congenital neutropenia 4
  • Aliases:
    • Dursun syndrome
    • SCN4
    • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
    • severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Danio rerio (zebrafish)
DOID:0112136
  • severe congenital neutropenia 4
  • Aliases:
    • Dursun syndrome
    • SCN4
    • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
    • severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Rattus norvegicus (Norway rat)
DOID:0112136
  • severe congenital neutropenia 4
  • Aliases:
    • Dursun syndrome
    • SCN4
    • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
    • severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Mus musculus (house mouse)
DOID:0112137
  • combined oxidative phosphorylation deficiency 51
  • Aliases:
    • COXPD51
Homo sapiens (human)
DOID:0112139
  • nuclear type mitochondrial complex I deficiency 35
  • Aliases:
    • MC1DN35
Rattus norvegicus (Norway rat)
DOID:0112139
  • nuclear type mitochondrial complex I deficiency 35
  • Aliases:
    • MC1DN35
Mus musculus (house mouse)
DOID:0112140
  • retinitis pigmentosa 83
  • Aliases:
    • RP83
Homo sapiens (human)
DOID:0112140
  • retinitis pigmentosa 83
  • Aliases:
    • RP83
Mus musculus (house mouse)
DOID:0112141
  • retinitis pigmentosa 84
  • Aliases:
    • RP84
Homo sapiens (human)
DOID:0112142
  • retinitis pigmentosa 85
  • Aliases:
    • RP85
Homo sapiens (human)
DOID:0112143
  • retinitis pigmentosa 86
  • Aliases:
    • RP86
Mus musculus (house mouse)
DOID:0112143
  • retinitis pigmentosa 86
  • Aliases:
    • RP86
Homo sapiens (human)
DOID:0112145
  • retinitis pigmentosa 88
  • Aliases:
    • RP88
Homo sapiens (human)
DOID:0112146
  • retinitis pigmentosa 89
  • Aliases:
    • RP89
Mus musculus (house mouse)
DOID:0112147
  • retinitis pigmentosa 90
  • Aliases:
    • RP90
Saccharomyces cerevisiae S288C
DOID:0112147
  • retinitis pigmentosa 90
  • Aliases:
    • RP90
Rattus norvegicus (Norway rat)
DOID:0112147
  • retinitis pigmentosa 90
  • Aliases:
    • RP90
Homo sapiens (human)
DOID:0112147
  • retinitis pigmentosa 90
  • Aliases:
    • RP90
Mus musculus (house mouse)
DOID:0112148
  • Uruguay faciocardiomusculoskeletal syndrome
  • Aliases:
    • FCMSU
Homo sapiens (human)
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Last updated: December 9, 2024