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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 4926 - 4950 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110590
  • autosomal dominant nonsyndromic deafness 69
  • Aliases:
    • DCUA
    • DFNA69
    • autosomal dominant deafness 69
    • unilateral or asymmetric congenital deafness
Mus musculus (house mouse)
DOID:0111373
  • familial progressive hyperpigmentation with or without hypopigmentation
  • Aliases:
    • FPHH
    • MUH
    • melanosis universalis hereditaria
Mus musculus (house mouse)
DOID:0050464
  • Farber lipogranulomatosis
  • Aliases:
    • Farber disease
    • N-laurylsphingosine deacylase deficiency
    • acid ceramidase deficiency
Caenorhabditis elegans
DOID:1927
  • sphingolipidosis
  • Aliases:
    • sphingolipidoses
Caenorhabditis elegans
DOID:0111527
  • spinal muscular atrophy with progressive myoclonic epilepsy
  • Aliases:
    • Jankovic-Rivera syndrome
    • SMA-PME
    • SMAPME
    • hereditary myoclonus-progressive distal muscular atrophy syndrome
Caenorhabditis elegans
DOID:0060479
  • Shwachman-Diamond syndrome
  • Aliases:
    • Shwachman syndrome
    • Shwachman-Bodian-Diamond syndrome
    • Shwachman-Diamond type metaphyseal dysplasia
    • pancreatic insufficiency and bone marrow dysfunction
Caenorhabditis elegans
DOID:1588
  • thrombocytopenia
Caenorhabditis elegans
DOID:9870
  • galactosemia
  • Aliases:
    • Galactosaemia
    • Galactose intolerance
Caenorhabditis elegans
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
Caenorhabditis elegans
DOID:4467
  • clear cell renal cell carcinoma
  • Aliases:
    • Clear cell carcinoma of kidney
    • clear cell kidney carcinoma
    • conventional (Clear cell) renal cell carcinoma
    • conventional renal cell carcinoma
    • renal clear cell carcinoma
Caenorhabditis elegans
DOID:2871
  • endometrial carcinoma
  • Aliases:
    • carcinoma of the Endometrium
    • endometrioid carcinoma
    • endometrioid carcinoma of female Reproductive system
Caenorhabditis elegans
DOID:13129
  • severe pre-eclampsia
  • Aliases:
    • Severe pre-eclampsia, with delivery
    • antepartum severe pre-eclampsia
    • postpartum severe pre-eclampsia
    • severe preeclampsia
Caenorhabditis elegans
DOID:2945
  • severe acute respiratory syndrome
  • Aliases:
    • SARS
    • SARS-CoV infection
Caenorhabditis elegans
DOID:2893
  • cervix carcinoma
  • Aliases:
    • cancer of cervix
    • carcinoma cervix uteri
    • carcinoma of cervix
    • carcinoma of the Cervix Uteri
Caenorhabditis elegans
DOID:8488
  • polyhydramnios
Caenorhabditis elegans
DOID:0112333
  • pontocerebellar hypoplasia type 16
  • Aliases:
    • PCH16
Mus musculus (house mouse)
DOID:12798
  • mucopolysaccharidosis
Caenorhabditis elegans
DOID:8283
  • peritonitis
  • Aliases:
    • Retractile mesenteritis
    • acute generalized peritonitis
    • primary bacterial peritonitis
    • sclerosing mesenteritis
Caenorhabditis elegans
DOID:12803
  • Sly syndrome
  • Aliases:
    • MPS VII - Sly syndrome
    • beta-glucuronidase deficiency
    • deficiency of beta-glucuronidase
    • mucopolysaccharidosis VII
Caenorhabditis elegans
DOID:891
  • progressive myoclonus epilepsy
  • Aliases:
    • PME
    • progressive myoclonic epilepsy
Caenorhabditis elegans
DOID:0090080
  • hypogonadotropic hypogonadism 16 with or without anosmia
Caenorhabditis elegans
DOID:0050834
  • CHARGE syndrome
  • Aliases:
    • CHARGE association
Caenorhabditis elegans
DOID:0111526
  • Mullerian aplasia and hyperandrogenism
  • Aliases:
    • Mullerian duct failure and hyperandrogenism
    • WNT4 deficiency
Caenorhabditis elegans
DOID:4997
  • Camurati-Engelmann disease
  • Aliases:
    • Diaphyseal dysplasia
    • Engelman's disease
    • progressive diaphyseal dysplasia
Mus musculus (house mouse)
DOID:0090100
  • ocular albinism with sensorineural deafness
  • Aliases:
    • WS2-OA
    • autosomal recessive Waardenburg syndrome type 2 with ocular albinism
    • digenic Waardenburg syndrome/albinism
    • digenic Waardenburg syndrome/ocular albinism
Mus musculus (house mouse)
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Last updated: December 9, 2024