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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 176 - 200 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:987
  • alopecia
Homo sapiens (human)
DOID:0070520
  • peeling skin syndrome 1
  • Aliases:
    • PSS1
    • generalized inflammatory peeling skin syndrome
    • inflammatory peeling skin syndrome
    • peeling skin syndrome type B
Homo sapiens (human)
DOID:0110699
  • hypotrichosis 2
  • Aliases:
    • HTSS1
    • HYPT2
    • Spanish type hypotrichosis
    • hypotrichosis simplex of the scalp 1
Homo sapiens (human)
DOID:1470
  • major depressive disorder
  • Aliases:
    • clinical depression
    • major depression
    • recurrent major depression
    • single major depressive episode
    • unipolar depression
Mus musculus (house mouse)
DOID:0111249
  • uveal coloboma-cleft lip and palate-intellectual disability
  • Aliases:
    • COB1
    • Uveal coloboma-cleft lip/palate-mental retardation syndrome
    • coloboma-microphthalmos syndrome
    • coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate
    • ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation
Homo sapiens (human)
DOID:9268
  • glycine encephalopathy
  • Aliases:
    • GCE
    • NKH
    • Non-ketotic hyperglycinemia
    • nonketotic hyperglycinemia
Mus musculus (house mouse)
DOID:9970
  • obesity
Mus musculus (house mouse)
DOID:1094
  • attention deficit hyperactivity disorder
  • Aliases:
    • ADHD
    • attention deficit disorder
    • hyperkinetic disorder
Mus musculus (house mouse)
DOID:0050908
  • myelodysplastic syndrome
Mus musculus (house mouse)
DOID:0112133
  • severe congenital neutropenia 3
  • Aliases:
    • Kostmann disease
    • Kostmann syndrome
    • SCN3
    • infantile agranulocytosis
Homo sapiens (human)
DOID:0080932
  • primary localized cutaneous amyloidosis 3
  • Aliases:
    • Amyloidosis cutis dyschromica
Homo sapiens (human)
DOID:0060041
  • autism spectrum disorder
Homo sapiens (human)
DOID:0110367
  • retinitis pigmentosa 38
  • Aliases:
    • RP38
Homo sapiens (human)
DOID:0070261
  • congenital disorder of glycosylation type IIi
  • Aliases:
    • CDG IIi
    • CDG syndrome type IIi
    • CDG2I
    • CDGIIi
    • COG5-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIi
    • Congenital disorder of glycosylation type 2i
Homo sapiens (human)
DOID:11612
  • polycystic ovary syndrome
  • Aliases:
    • Multicystic ovaries
    • PCOS
    • Polycystic Ovarian disease
    • Polycystic ovaries
    • Stein-Leventhal synd.
    • Stein-Leventhal syndrome
    • polycystic ovary
Homo sapiens (human)
DOID:9074
  • systemic lupus erythematosus
  • Aliases:
    • Lupus Erythematosus, systemic
    • SLE - Lupus Erythematosus, systemic
    • disseminated lupus erythematosus
Mus musculus (house mouse)
DOID:0060825
  • Christianson syndrome
  • Aliases:
    • MRXSCH
    • X-linked Angelman-like syndrome
    • X-linked intellectual disability, South African type
    • X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
    • mental retardation, X-linked syndromic, Christianson type
    • mental retardation, microcephaly, epilepsy, and ataxia syndrome
Homo sapiens (human)
DOID:0060074
  • ductal carcinoma in situ
Homo sapiens (human)
DOID:1338
  • congenital dyserythropoietic anemia
  • Aliases:
    • congenital dyshaematopoietic anaemia
Homo sapiens (human)
DOID:0111399
  • congenital dyserythropoietic anemia type IIIa
  • Aliases:
    • CDA III
    • CDA type 3
    • CDA type III
    • CDAN3
    • Congenital dyserythropoietic anaemia type 3
    • Congenital dyserythropoietic anemia type 3
    • anaemia with multinucleated erythroblasts
    • anemia with multinucleated erythroblasts
    • congenital dyserythropoietic anaemia type III
    • hereditary benign erythroreticulosis
Homo sapiens (human)
DOID:0111397
  • congenital dyserythropoietic anemia type Ib
  • Aliases:
    • CDA, type Ib
    • CDAN1B
Homo sapiens (human)
DOID:0111401
  • congenital dyserythropoietic anemia type II
  • Aliases:
    • CDA II
    • CDA type 2
    • CDA type II
    • CDAN2
    • Congenital dyserythropoietic anaemia type 2
    • Congenital dyserythropoietic anemia type 2
    • Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
    • SEC23B-CDG
    • congenital dyserythropoietic anaemia type II
Homo sapiens (human)
DOID:0081003
  • Cowden syndrome 7
Homo sapiens (human)
DOID:0070307
  • craniolenticulosutural dysplasia
  • Aliases:
    • Boyadjiev-Jabs Syndrome
    • cranio-lenticulo-sutural dysplasia, CLSD
Homo sapiens (human)
DOID:0110337
  • osteogenesis imperfecta type 7
  • Aliases:
    • OI7
    • osteogenesis imperfecta type VII
Homo sapiens (human)

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Last updated: April 7, 2025