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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 2426 - 2450 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0111406
  • Fraser syndrome 3
  • Aliases:
    • FRASRS3
Homo sapiens (human)
DOID:0111407
  • Fraser syndrome 2
  • Aliases:
    • FRASRS2
Homo sapiens (human)
DOID:0111411
  • exudative vitreoretinopathy 4
  • Aliases:
    • EVR4
Homo sapiens (human)
DOID:0111412
  • exudative vitreoretinopathy 1
  • Aliases:
    • EVR1
Homo sapiens (human)
DOID:0111415
  • trichohepatoenteric syndrome 1
  • Aliases:
    • THES1
Homo sapiens (human)
DOID:0111416
  • trichohepatoenteric syndrome 2
  • Aliases:
    • THES2
Homo sapiens (human)
DOID:0111418
  • familial apolipoprotein C-II deficiency
  • Aliases:
    • C-II anapolipoproteinemia
    • familial APOC2 deficiency
    • familial apoC-II deficiency
    • hyperlipoproteinemia, type 1b
    • hyperlipoproteinemia, type Ib
Homo sapiens (human)
DOID:0111420
  • familial GPIHBP1 deficiency
  • Aliases:
    • familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency
    • hyperlipoproteinemia type 1D
    • hyperlipoproteinemia type ID
Homo sapiens (human)
DOID:0111421
  • familial apolipoprotein A5 deficiency
  • Aliases:
    • familial APOA5 deficiency
    • familial apolipoprotein A-V deficiency
Homo sapiens (human)
DOID:0111422
  • familial lipase maturation factor 1 deficiency
  • Aliases:
    • LPL and HL deficiency
    • LPL and HTGL deficiency
    • combined lipase deficiency
    • familial LMF1 deficiency
    • lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency
Homo sapiens (human)
DOID:0111424
  • branchiootorenal syndrome 2
  • Aliases:
    • BOR2
Homo sapiens (human)
DOID:0111425
  • restrictive cardiomyopathy 1
  • Aliases:
    • RCM1
    • familial restrictive cardiomyopathy 1
Homo sapiens (human)
DOID:0111428
  • essential tremor 1
  • Aliases:
    • ETM1
    • hereditary essential tremor 1
Homo sapiens (human)
DOID:0111431
  • essential tremor 4
  • Aliases:
    • ETM4
    • hereditary essential tremor 4
Homo sapiens (human)
DOID:0111432
  • essential tremor 5
  • Aliases:
    • ETM5
    • hereditary essential tremor 5
Homo sapiens (human)
DOID:0111433
  • optic atrophy 3
  • Aliases:
    • ADOAC
    • OPA3
    • autosomal dominant optic atrophy 3
    • autosomal dominant optic atrophy and cataract
    • autosomal dominant optic atrophy type 3
    • optic atrophy 3 with cataract
Homo sapiens (human)
DOID:0111434
  • optic atrophy 10
  • Aliases:
    • OPA10
    • optic atrophy 10 with or without ataxia, mental retardation, and seizures
Homo sapiens (human)
DOID:0111436
  • optic atrophy 11
  • Aliases:
    • OPA11
Homo sapiens (human)
DOID:0111437
  • optic atrophy 7
  • Aliases:
    • OPA7
    • optic atrophy 7 with or without auditory neuropathy
Homo sapiens (human)
DOID:0111438
  • optic atrophy 5
  • Aliases:
    • OPA5
Homo sapiens (human)
DOID:0111441
  • optic atrophy 1
  • Aliases:
    • OPA1
Homo sapiens (human)
DOID:0111442
  • optic atrophy 9
  • Aliases:
    • OPA9
Homo sapiens (human)
DOID:0111444
  • progressive myoclonus epilepsy 4
  • Aliases:
    • AMRF
    • EPM4
    • Myoclonus-nephropathy syndrome
    • action myoclonus-renal failure syndrome
Homo sapiens (human)
DOID:0111446
  • progressive myoclonus epilepsy 3
  • Aliases:
    • CLN14 disease
    • EPM3
    • PME type 3
    • Progressive myoclonic epilepsy due to KCTD7 deficiency
    • Progressive myoclonus epilepsy type 3
    • neuronal ceroid lipofuscinosis 14
Homo sapiens (human)
DOID:0111447
  • progressive myoclonus epilepsy 7
  • Aliases:
    • EPM7
    • MEAK
    • Myoclonus epilepsy and ataxia due to potassium channel mutation
    • PME type 7
    • Progressive myoclonic epilepsy due to KV3.1 deficiency
    • Progressive myoclonus epilepsy type 7
Homo sapiens (human)
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Last updated: December 9, 2024