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 1901 - 1925 of 4621 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:0111136
  • congenital generalized lipodystrophy type 2
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 2
    • Berardinelli-Seip syndrome
    • Brunzell syndrome BSCL2-related
    • CGL2
    • congenital lipoatrophic diabetes
    • total lipodystrophy and acromegaloid gigantism
Homo sapiens (human)
DOID:0111137
  • congenital generalized lipodystrophy type 3
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 3
Homo sapiens (human)
DOID:0060689
  • atrichia with papular lesions
  • Aliases:
    • papular atrichia
Homo sapiens (human)
DOID:0050440
  • familial partial lipodystrophy
  • Aliases:
    • Dunnigan Syndrome
    • Koberling-Dunnigan Syndrome
Homo sapiens (human)
DOID:10718
  • giardiasis
  • Aliases:
    • Infection by Giardia lamblia
    • beaver feaver
Homo sapiens (human)
DOID:2748
  • glycogen storage disease III
  • Aliases:
    • Glycogen storage disease 3
    • Glycogen storage disease, type III
    • amylo 1,6 glucosidase deficiency
    • deficiency of debranching enzyme
    • deficiency of dextrin
Homo sapiens (human)
DOID:1526
  • panniculitis
Homo sapiens (human)
DOID:1525
  • nodular nonsuppurative panniculitis
  • Aliases:
    • Relapsing febrile nodular nonsuppurative panniculitis
    • Weber - Christian disease
    • Weber-Christian disease
    • nodular non-suppurative febrile panniculitis
Homo sapiens (human)
DOID:0050585
  • congenital generalized lipodystrophy
Homo sapiens (human)
DOID:585
  • nephrolithiasis
  • Aliases:
    • Stone - kidney/ureter
    • kidney stones
Homo sapiens (human)
DOID:580
  • uric acid nephrolithiasis
  • Aliases:
    • acute urate nephropathy
Homo sapiens (human)
DOID:1064
  • cystinosis
  • Aliases:
    • cystine storage disease
Homo sapiens (human)
DOID:11717
  • neonatal diabetes
  • Aliases:
    • diabetes mellitus syndrome in newborn infant
    • neonatal diabetes mellitus
Homo sapiens (human)
DOID:0060334
  • transient neonatal diabetes mellitus
Homo sapiens (human)
DOID:1062
  • Fanconi syndrome
  • Aliases:
    • Congenital Fanconi syndrome
    • De Toni-Fanconi syndrome
    • Fanconi-de Toni syndrome
    • Fanconi-de-Toni syndrome
    • Infantile nephropathic cystinosis
    • Lignac-Fanconi syndrome
    • adult Fanconi Anemia
    • adult Fanconi syndrome
    • deToni Fanconi syndrome
Homo sapiens (human)
DOID:3138
  • acanthosis nigricans
  • Aliases:
    • keratosis nigricans
Homo sapiens (human)
DOID:2581
  • chondrodysplasia punctata
  • Aliases:
    • Chondrodysplasia punctata congenita
Homo sapiens (human)
DOID:0110851
  • rhizomelic chondrodysplasia punctata type 1
  • Aliases:
    • Pbd9
    • Peroxisome Biogenesis Disorder 9
    • Rcdp1
Homo sapiens (human)
DOID:0060292
  • X-linked chondrodysplasia punctata 1
  • Aliases:
    • chondrodystrophia calcificans congenita
Homo sapiens (human)
DOID:0110853
  • rhizomelic chondrodysplasia punctata type 3
  • Aliases:
    • Agps Deficiency
    • Alkyldihydroxyacetonephosphate Synthase Deficiency
    • Alkylglycerone-Phosphate Synthase Deficiency
    • Rcdp3
Homo sapiens (human)
DOID:0110852
  • rhizomelic chondrodysplasia punctata type 2
  • Aliases:
    • Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Dhapat Deficiency
    • Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Glyceronephosphate O-Acyltransferase Deficiency
    • Gnpat Deficiency
    • Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Rcdp2
Homo sapiens (human)
DOID:0060293
  • autosomal dominant chondrodysplasia punctata
Homo sapiens (human)
DOID:2580
  • rhizomelic chondrodysplasia punctata
  • Aliases:
    • Chondrodysplasia Punctata, Rhizomelic Form
Homo sapiens (human)
DOID:3818
  • photoallergic dermatitis
  • Aliases:
    • Photoallergic contact dermatitis
    • Photoallergic eczema
Homo sapiens (human)
DOID:9220
  • central sleep apnea
  • Aliases:
    • primary central sleep apnea
Homo sapiens (human)

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Last updated: August 19, 2024