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 2726 - 2750 of 4621 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism
DOID:0111530
  • linear nevus sebaceous syndrome
  • Aliases:
    • JNP
    • Jadassohn nevus phakomatosis
    • SFM syndrome
    • Schimmelpenning Feuerstein Mims syndrome
    • Schimmelpenning syndrome
    • Solomon syndrome
    • nevus sebaceus of Jadassohn
    • nevus sebaceus syndrome
    • organoid nevus phakomatosis
    • organoid nevus syndrome
Homo sapiens (human)
DOID:0111529
  • familial multiple nevi flammei
  • Aliases:
    • CMC
    • congenital capillary malformations
    • familial multiple port-wine stains
Homo sapiens (human)
DOID:0111527
  • spinal muscular atrophy with progressive myoclonic epilepsy
  • Aliases:
    • Jankovic-Rivera syndrome
    • SMA-PME
    • SMAPME
    • hereditary myoclonus-progressive distal muscular atrophy syndrome
Homo sapiens (human)
DOID:0111512
  • metachondromatosis
  • Aliases:
    • METCDS
Homo sapiens (human)
DOID:0111507
  • Lenz-Majewski hyperostotic dwarfism
  • Aliases:
    • Lenz-Majewski syndrome
Homo sapiens (human)
DOID:0111503
  • Li-Fraumeni syndrome 1
  • Aliases:
    • LFS1
Homo sapiens (human)
DOID:0111460
  • cardiofaciocutaneous syndrome 1
  • Aliases:
    • CFC1
Homo sapiens (human)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Homo sapiens (human)
DOID:0111458
  • galactose epimerase deficiency
  • Aliases:
    • GALE deficiency
    • GALE-D
    • UDP-galactose-4-epimerase deficiency
    • epimerase deficiency galactosemia
    • galactosemia III
    • galactosemia type 3
    • uridine diphosphate galactose-4-epimerase deficiency
Homo sapiens (human)
DOID:0111454
  • SHORT syndrome
  • Aliases:
    • Aarskog-Ose-Pande syndrome
    • Lipodystrophy-Rieger anomaly-diabetes syndrome
    • Rieger anomaly-partial lipodystrophy syndrome
    • short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
Homo sapiens (human)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Homo sapiens (human)
DOID:0111452
  • progressive myoclonus epilepsy 1A
  • Aliases:
    • EPM1A
Homo sapiens (human)
DOID:0111451
  • progressive myoclonus epilepsy 8
  • Aliases:
    • EMP8
    • PME type 8
    • progressive myoclonic epilepsy due to CERS1 deficiency
    • progressive myoclonus epilepsy type 8
Homo sapiens (human)
DOID:0111444
  • progressive myoclonus epilepsy 4
  • Aliases:
    • AMRF
    • EPM4
    • Myoclonus-nephropathy syndrome
    • action myoclonus-renal failure syndrome
Homo sapiens (human)
DOID:0111442
  • optic atrophy 9
  • Aliases:
    • OPA9
Homo sapiens (human)
DOID:0111441
  • optic atrophy 1
  • Aliases:
    • OPA1
Homo sapiens (human)
DOID:0111425
  • restrictive cardiomyopathy 1
  • Aliases:
    • RCM1
    • familial restrictive cardiomyopathy 1
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:0111421
  • familial apolipoprotein A5 deficiency
  • Aliases:
    • familial APOA5 deficiency
    • familial apolipoprotein A-V deficiency
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: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:0111416
  • trichohepatoenteric syndrome 2
  • Aliases:
    • THES2
Homo sapiens (human)
DOID:0111415
  • trichohepatoenteric syndrome 1
  • Aliases:
    • THES1
Homo sapiens (human)
DOID:0111414
  • trichohepatoenteric syndrome
  • Aliases:
    • SD/THE
    • Syndromic diarrhea/Tricho-hepato-enteric syndrome
    • THES
    • Tricho-hepato-enteric syndrome
    • phenotypic diarrhea
    • syndromic diarrhea
Homo sapiens (human)
DOID:0111412
  • exudative vitreoretinopathy 1
  • Aliases:
    • EVR1
Homo sapiens (human)

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Last updated: August 19, 2024