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 1276 - 1300 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:1019
  • osteomyelitis
Homo sapiens (human)
DOID:6498
  • seborrheic keratosis
Homo sapiens (human)
DOID:8866
  • actinic keratosis
  • Aliases:
    • SK - Solar keratosis
    • Senile hyperkeratosis
    • Solar keratosis
    • actinic (Solar) Keratosis
Homo sapiens (human)
DOID:10587
  • Krabbe disease
  • Aliases:
    • Diffuse globoid body sclerosis
    • GLOBOID CELL LEUKOENCEPHALOPATHY
    • Galactosylceramide beta-galactosidase deficiency
    • Krabbe's disease
    • Krabbe's leukodystrophy
    • beta galactocerebrosidase deficiency
    • globoid cell leukodystrophy
Homo sapiens (human)
DOID:2581
  • chondrodysplasia punctata
  • Aliases:
    • Chondrodysplasia punctata congenita
Homo sapiens (human)
DOID:0070323
  • childhood acute myeloid leukemia
  • Aliases:
    • childhood acute myeloid leukaemia
    • paediatric acute myeloid leukaemia
    • pediatric acute myeloid leukemia
Homo sapiens (human)
DOID:14501
  • Sjogren-Larsson syndrome
  • Aliases:
    • FALDH deficiency
    • SLS
    • Sjogren Larsson syndrome
    • Sjogren-Larsson's syndrome
    • fatty acid alcohol oxidoreductase deficiency
Homo sapiens (human)
DOID:14773
  • cartilage-hair hypoplasia
  • Aliases:
    • CHH
    • McKusick type metaphyseal chondrodysplasia
    • Metaphyseal chondrodysplasia, McKusick type
Homo sapiens (human)
DOID:0060292
  • X-linked chondrodysplasia punctata 1
  • Aliases:
    • chondrodystrophia calcificans congenita
Homo sapiens (human)
DOID:0080352
  • X-linked chondrodysplasia punctata 2
  • Aliases:
    • Conradi-Hunermann Syndrome
    • Happle syndrome
Homo sapiens (human)
DOID:0110851
  • rhizomelic chondrodysplasia punctata type 1
  • Aliases:
    • Pbd9
    • Peroxisome Biogenesis Disorder 9
    • Rcdp1
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:0060655
  • autosomal recessive congenital ichthyosis
  • Aliases:
    • ARCI
    • lamellar ichthyosis
    • non bullous congenital ichthyosiform erythroderma
Homo sapiens (human)
DOID:205
  • hyperostosis
  • Aliases:
    • bone hypertrophy
    • hypertrophy of bone
Homo sapiens (human)
DOID:12259
  • hemophilia B
  • Aliases:
    • Congenital factor IX deficiency
    • Congenital factor IX disorder
    • deficiency, functional factor IX
    • factor IX deficiency
Homo sapiens (human)
DOID:0111152
  • multicentric Castleman disease
  • Aliases:
    • MCD
    • PMCD
    • multicentric giant lymph node hyperplasia
    • plasmablastic multicentric Castleman disease
Homo sapiens (human)
DOID:5363
  • myxoid liposarcoma
  • Aliases:
    • Myxoid/round cell liposarcoma
Homo sapiens (human)
DOID:3227
  • tracheal stenosis
  • Aliases:
    • Stenosis of trachea
Homo sapiens (human)
DOID:0060613
  • X-linked cleft palate with or without ankyloglossia
  • Aliases:
    • X-linked cleft palate and ankyloglossia
Homo sapiens (human)
DOID:5709
  • mixed-type liposarcoma
Homo sapiens (human)
DOID:0060604
  • ankyloglossia
  • Aliases:
    • tongue-tie
Homo sapiens (human)
DOID:0111865
  • MEND syndrome
  • Aliases:
    • male EBP disorder with neurological defects
Homo sapiens (human)
DOID:14224
  • tracheal calcification
  • Aliases:
    • Calcification of trachea
Homo sapiens (human)

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Last updated: August 19, 2024