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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 3351 - 3375 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0090076
  • hypogonadotropic hypogonadism 18 with or without anosmia
Homo sapiens (human)
DOID:0110066
  • amelogenesis imperfecta type 1G
  • Aliases:
    • AI1G
    • AIGFS
    • ERS
    • amelogenesis imperfecta and gingival fibromatosis syndrome
    • amelogenesis imperfecta hypoplastic with nephrocalcinosis
    • amelogenesis imperfecta type IG
    • enamel-renal syndrome
    • enamel-renal-gingival syndrome
Homo sapiens (human)
DOID:0110617
  • primary ciliary dyskinesia 5
  • Aliases:
    • CILD5
    • primary ciliary dyskinesia 5 without situs inversus
Homo sapiens (human)
DOID:0080540
  • galactosialidosis
Homo sapiens (human)
DOID:12506
  • Bell's palsy
  • Aliases:
    • Bell palsy
    • Bell's (facial) palsy
Homo sapiens (human)
DOID:0080766
  • erythrokeratodermia variabilis et progressiva 6
Homo sapiens (human)
DOID:0111076
  • progressive familial heart block type IB
  • Aliases:
    • PFHB1B
Homo sapiens (human)
DOID:5200
  • urinary tract obstruction
  • Aliases:
    • Obstructive Uropathy
    • urinary obstruction
Homo sapiens (human)
DOID:0110349
  • osteogenesis imperfecta type 9
  • Aliases:
    • OI9
    • osteogenesis imperfecta type IX
Homo sapiens (human)
DOID:0111464
  • combined oxidative phosphorylation deficiency 35
  • Aliases:
    • COXPD35
Homo sapiens (human)
DOID:0060884
  • renal hypomagnesemia 6
  • Aliases:
    • HOMG6
Homo sapiens (human)
DOID:0081270
  • Smith-McCort dysplasia 1
Homo sapiens (human)
DOID:0080170
  • normophosphatemic familial tumoral calcinosis
Homo sapiens (human)
DOID:0050754
  • ataxia with oculomotor apraxia type 1
Homo sapiens (human)
DOID:14784
  • olivopontocerebellar atrophy
  • Aliases:
    • Dejerine-Thomas syndrome
    • Thomas' syndrome
    • WADIA-SWAMI SYNDROME
Homo sapiens (human)
DOID:8850
  • salivary gland cancer
  • Aliases:
    • malignant neoplasm of salivary gland
Homo sapiens (human)
DOID:0081179
  • autosomal recessive intellectual developmental disorder 3
Homo sapiens (human)
DOID:0111799
  • syndromic microphthalmia 1
  • Aliases:
    • Lenz dysplasia
    • Lenz microphthalmia
    • Lenz type microphthalmia
    • MCOPS1
Homo sapiens (human)
DOID:0111809
  • syndromic microphthalmia 2
  • Aliases:
    • ANOP2
    • MAA2
    • MCOPS2
    • OFCD syndrome
    • cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
    • microphthalmia cataracts radiculomegaly and septal heart defects
    • oculofaciocardiodental syndrome
    • syndromic microphthalmia type 2
Homo sapiens (human)
DOID:0081181
  • autosomal recessive intellectual developmental disorder 5
Homo sapiens (human)
DOID:0050869
  • villous adenoma
Homo sapiens (human)
DOID:0060410
  • chromosome 1p36 deletion syndrome
  • Aliases:
    • 1p36 deletion syndrome
    • deletion 1p36
    • monosomy 1p36
Homo sapiens (human)
DOID:2835
  • polycythemia due to hypoxia
Homo sapiens (human)
DOID:0112103
  • Sotos syndrome 1
  • Aliases:
    • SOTOS1
Homo sapiens (human)
DOID:0112224
  • chondrodysplasia with joint dislocations gPAPP type
  • Aliases:
    • gPAPP deficiency
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025