GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 176 - 200 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:890
  • mitochondrial encephalomyopathy
Homo sapiens (human)
DOID:2436
  • glomangioma
  • Aliases:
    • Glomuvenous Malformation
Homo sapiens (human)
DOID:0070285
  • primary autosomal recessive microcephaly 1
  • Aliases:
    • MCPH1
Homo sapiens (human)
DOID:0080533
  • Carney-Stratakis syndrome
Homo sapiens (human)
DOID:0060480
  • left ventricular noncompaction
  • Aliases:
    • left ventricular hypertrabeculation
Homo sapiens (human)
DOID:0060537
  • mitochondrial complex II deficiency
  • Aliases:
    • isolated mitochondrial respiratory chain complex II deficiency
    • isolated succinate-CoQ reductase deficiency
    • isolated succinate-coenzyme Q reductase deficiency
    • isolated succinate-ubiquinone reductase deficiency
Homo sapiens (human)
DOID:7505
  • small intestine benign neoplasm
  • Aliases:
    • neoplasm of small intestine
    • small intestinal neoplasm
Homo sapiens (human)
DOID:0070027
  • CST3-related cerebral amyloid angiopathy
  • Aliases:
    • Amyloidosis VI
    • Amyloidosis, Cerebroarterial, Icelandic Type
    • Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant
    • HCHWA
    • Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant
Homo sapiens (human)
DOID:13812
  • adhesions of uterus
  • Aliases:
    • Band of uterus
    • Intrauterine adhesions
    • Intrauterine synechiae
Homo sapiens (human)
DOID:13254
  • diverticulitis of colon
  • Aliases:
    • colonic diverticular disease
Homo sapiens (human)
DOID:0112160
  • autosomal dominant nonsyndromic deafness 79
  • Aliases:
    • DFNA79
Homo sapiens (human)
DOID:11786
  • splenic sequestration
Homo sapiens (human)
DOID:12358
  • patulous eustachian tube
Homo sapiens (human)
DOID:0111239
  • congenital muscular dystrophy-dystroglycanopathy type A10
  • Aliases:
    • MDDGA10
    • Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
Homo sapiens (human)
DOID:0110016
  • Leber congenital amaurosis 2
  • Aliases:
    • LCA2
    • amaurosis congenita of Leber II
Homo sapiens (human)
DOID:0090114
  • Sorsby's fundus dystrophy
  • Aliases:
    • SFD
    • hemorrhagic macular dystrophy
    • pseudoinflammatory fundus dystrophy of Sorsby
Homo sapiens (human)
DOID:0060745
  • Doyne honeycomb retinal dystrophy
  • Aliases:
    • DHRD
    • Doyne honeycomb degeneration of retina
Homo sapiens (human)
DOID:8465
  • retinoschisis
Homo sapiens (human)
DOID:12165
  • retinal lattice degeneration
  • Aliases:
    • Palisade degeneration of retina
Homo sapiens (human)
DOID:0060746
  • basal laminar drusen
  • Aliases:
    • cuticular drusen
    • drusen of bruch membrane
    • early adult-onset grouped drusen
Homo sapiens (human)
DOID:0050332
  • enlarged vestibular aqueduct
Homo sapiens (human)
DOID:0090022
  • split hand-foot malformation 5
  • Aliases:
    • SHFM5
Homo sapiens (human)
DOID:0090020
  • split hand-foot malformation
  • Aliases:
    • lobster-claw deformity
    • split-hand deformity
Homo sapiens (human)
DOID:0090023
  • split hand-foot malformation 4
  • Aliases:
    • SHFM4
Homo sapiens (human)
DOID:0090026
  • split hand-foot malformation 6
  • Aliases:
    • SHFM6
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: August 19, 2024