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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 5976 - 6000 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0112137
  • combined oxidative phosphorylation deficiency 51
  • Aliases:
    • COXPD51
Homo sapiens (human)
DOID:0080519
  • PAPA syndrome
  • Aliases:
    • pyogenic arthritis, pyoderma gangrenosum and acne
Homo sapiens (human)
DOID:0060916
  • proteasome-associated autoinflammatory syndrome 3
  • Aliases:
    • PRAAS3
Homo sapiens (human)
DOID:0080075
  • Neu-Laxova syndrome 2
Homo sapiens (human)
DOID:0050723
  • PSAT deficiency
  • Aliases:
    • Phosphoserine aminotransferase deficiency
Homo sapiens (human)
DOID:0110961
  • atypical Gaucher's disease due to saposin c deficiency
Homo sapiens (human)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Homo sapiens (human)
DOID:9455
  • lipid storage disease
  • Aliases:
    • Lipoid storage diseas
    • inborn lipid storage disorder
    • lipoidosis
Homo sapiens (human)
DOID:0060835
  • isolated microphthalmia 6
  • Aliases:
    • MCOP6
    • posterior nonsyndromic microphthalmia
Homo sapiens (human)
DOID:0081177
  • autosomal recessive intellectual developmental disorder 1
Homo sapiens (human)
DOID:0050566
  • X-linked nonsyndromic deafness
  • Aliases:
    • X-linked deafness
Homo sapiens (human)
DOID:0111260
  • phosphoribosylpyrophosphate synthetase superactivity
  • Aliases:
    • PRPP synthetase superactivity
    • PRPS1 superactivity
Homo sapiens (human)
DOID:0111739
  • X-linked deafness 1
  • Aliases:
    • DFN2
    • DFNX1
    • X-linked sensorineural congenital deafness 2
Homo sapiens (human)
DOID:0110210
  • Charcot-Marie-Tooth disease X-linked recessive 5
  • Aliases:
    • CMT5X
    • CMTX5
    • Charcot-Marie-Tooth neuropathy X-linked recessive 5
    • Rosenberg-Chutorian syndrome
    • X-linked Charcot-Marie-Tooth disease type 5
    • optic atrophy, polyneuropathy, and deafness
Homo sapiens (human)
DOID:9822
  • partial central choroid dystrophy
  • Aliases:
    • Choroidal dystrophy, central areolar
Homo sapiens (human)
DOID:0060866
  • patterned macular dystrophy 1
  • Aliases:
    • MDPT1
    • butterfly-shaped pigmentary maculary dystrophy 1
Homo sapiens (human)
DOID:0060863
  • patterned macular dystrophy
  • Aliases:
    • patterned dystrophy of retinal pigment epithelium
Homo sapiens (human)
DOID:0110383
  • retinitis pigmentosa 7
  • Aliases:
    • RP7
Homo sapiens (human)
DOID:0110403
  • retinitis pigmentosa 13
  • Aliases:
    • RP13
Homo sapiens (human)
DOID:0110411
  • retinitis pigmentosa 60
  • Aliases:
    • RP60
Homo sapiens (human)
DOID:0110392
  • retinitis pigmentosa 70
  • Aliases:
    • RP70
Homo sapiens (human)
DOID:0110356
  • retinitis pigmentosa 18
  • Aliases:
    • RP18
Homo sapiens (human)
DOID:0111900
  • autosomal dominant thrombophilia due to protein S deficiency
  • Aliases:
    • THPH5
Homo sapiens (human)
DOID:0111905
  • autosomal recessive thrombophilia due to protein S deficiency
  • Aliases:
    • THPH6
    • autosomal recessive thrombophilia due to congenital protein S deficiency
    • severe hereditary thrombophilia due to congenital protein S deficiency
Homo sapiens (human)
DOID:2451
  • protein S deficiency
  • Aliases:
    • Protein S deficiency disease
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024