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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 2801 - 2825 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
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:0112137
  • combined oxidative phosphorylation deficiency 51
  • Aliases:
    • COXPD51
Homo sapiens (human)
DOID:0112140
  • retinitis pigmentosa 83
  • Aliases:
    • RP83
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0112145
  • retinitis pigmentosa 88
  • Aliases:
    • RP88
Homo sapiens (human)
DOID:0112147
  • retinitis pigmentosa 90
  • Aliases:
    • RP90
Homo sapiens (human)
DOID:0112148
  • Uruguay faciocardiomusculoskeletal syndrome
  • Aliases:
    • FCMSU
Homo sapiens (human)
DOID:0112149
  • terminal osseous dysplasia
  • Aliases:
    • ODPD
    • ODPF syndrome
    • TOD
    • TODPD
    • digital osseous dysplasia with facial pigmentary defects and multiple frenula
    • terminal osseous dysplasia-pigmentary defects syndrome
Homo sapiens (human)
DOID:0112150
  • X-linked spondyloepimetaphyseal dysplasia
  • Aliases:
    • SEMD X-linked
    • SEMDX
Homo sapiens (human)
DOID:0112151
  • corpus callosum agenesis-abnormal genitalia syndrome
  • Aliases:
    • ACC with abnormal genitalia
    • Proud syndrome
    • Proud-Levine-Carpenter syndrome
    • corpus callosum agenesis with abnormal genitalia
    • microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
Homo sapiens (human)
DOID:0112152
  • CHIME syndrome
  • Aliases:
    • PIGL-CDG
    • Zunich neuroectodermal syndrome
    • Zunich-Kaye syndrome
    • coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
    • congenital disorder of glycosylation due to PIGL deficiency
    • neuroectodermal dysplasia, CHIME type
    • neuroectodermal syndrome, Zunich type
Homo sapiens (human)
DOID:0112155
  • inflammatory bowel disease 29
  • Aliases:
    • IBD29
Homo sapiens (human)
DOID:0112158
  • De Sanctis-Cacchione syndrome
  • Aliases:
    • xeroderma pigmentosum with neurologic manifestation
Homo sapiens (human)
DOID:0112159
  • autosomal dominant nonsyndromic deafness 78
  • Aliases:
    • DFNA78
Homo sapiens (human)
DOID:0112160
  • autosomal dominant nonsyndromic deafness 79
  • Aliases:
    • DFNA79
Homo sapiens (human)
DOID:0112162
  • autosomal recessive nonsyndromic deafness 116
  • Aliases:
    • DFNB116
Homo sapiens (human)
DOID:0112163
  • spermatogenic failure 45
  • Aliases:
    • SPGF45
Homo sapiens (human)
DOID:0112164
  • spermatogenic failure 46
  • Aliases:
    • SPGF46
Homo sapiens (human)
DOID:0112166
  • autosomal dominant nonsyndromic deafness 75
  • Aliases:
    • DFNA75
Homo sapiens (human)
DOID:0112167
  • autosomal dominant nonsyndromic deafness 76
  • Aliases:
    • DFNA76
Homo sapiens (human)
DOID:0112168
  • autosomal dominant nonsyndromic deafness 77
  • Aliases:
    • DFNA77
Homo sapiens (human)
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Last updated: December 9, 2024