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 July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1151 - 1175 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0111044
  • gray platelet syndrome
  • Aliases:
    • BDPLT4
    • GPS
    • platelet alpha-granule deficiency
    • platelet-type bleeding disorder 4
Homo sapiens (human)
DOID:0111051
  • platelet-type bleeding disorder 18
  • Aliases:
    • BDPLT18
    • bleeding disorder due to CalDAG-GEFI deficiency
    • bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
Homo sapiens (human)
DOID:11125
  • qualitative platelet defect
  • Aliases:
    • Qualitative platelet deficiency
Homo sapiens (human)
DOID:3652
  • Leigh disease
  • Aliases:
    • Infantile necrotizing encephalomyelopathy
    • Leigh syndrome
    • juvenile subacute necrotizing encephalomyelopathy
Homo sapiens (human)
DOID:11561
  • hypertensive retinopathy
Homo sapiens (human)
DOID:13353
  • diffuse interstitial keratitis
Homo sapiens (human)
DOID:0111147
  • angioimmunoblastic T-cell lymphoma
Homo sapiens (human)
DOID:679
  • basal ganglia disease
Homo sapiens (human)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Homo sapiens (human)
DOID:0080473
  • developmental delay and seizures with or without movement abnormalities
Homo sapiens (human)
DOID:0110352
  • retinitis pigmentosa 59
  • Aliases:
    • RP59
Homo sapiens (human)
DOID:4202
  • brain stem glioma
  • Aliases:
    • Brainstem Neuroglial tumor
Homo sapiens (human)
DOID:5050
  • Ehrlich tumor carcinoma
  • Aliases:
    • Ehrlich tumour carcinoma
    • Ehrlich's tumor
    • Ehrlich's tumour
Homo sapiens (human)
DOID:0060330
  • Rapp-Hodgkin syndrome
  • Aliases:
    • RHS
    • anhidrotic ectodermal dysplasia with cleft lip/palate
    • ectodermal dysplasia syndrome, Rapp-Hodgkin type
    • ectodermal dysplasia, Rapp-Hodgkin type
Homo sapiens (human)
DOID:0050454
  • periventricular nodular heterotopia
  • Aliases:
    • periventricular heterotopia
Homo sapiens (human)
DOID:10944
  • tongue disease
Homo sapiens (human)
DOID:11514
  • fissured tongue
  • Aliases:
    • Congenital fissure of tongue
    • Congenital plicated tongue
    • Fissure of tongue
    • Fissure of tongue, congenital
    • Furrowed tongue
    • Plicated tongue
    • Tongue, Fissured
    • geographic tongue and fissured tongue
    • lingua plicata
    • scrotal tongue
Homo sapiens (human)
DOID:3159
  • photosensitivity disease
  • Aliases:
    • Photodermatitis
Homo sapiens (human)
DOID:0080492
  • leukocyte adhesion deficiency 2
Homo sapiens (human)
DOID:6612
  • leukocyte adhesion deficiency
  • Aliases:
    • Congenital leukocyte adherence deficiency
Homo sapiens (human)
DOID:0070255
  • congenital disorder of glycosylation type IIc
  • Aliases:
    • CDG IIc
    • CDG2C
    • CDGIIc
    • Rambam-Hasharon syndrome
Homo sapiens (human)
DOID:11818
  • ureteric orifice cancer
  • Aliases:
    • Orifice of the Ureter
    • malignant neoplasm of ureteric orifice of urinary bladder
    • malignant tumor of ureteric orifice
Homo sapiens (human)
DOID:4297
  • scimitar syndrome
  • Aliases:
    • Halasz syndrome
    • congenital venolobar syndrome
    • hypogenetic lung syndrome
    • mirror-image lung syndrome
    • pulmonary venolobar syndrome
    • total anomalous pulmonary venous return
    • vena cava bronchovascular syndrome
Homo sapiens (human)
DOID:0080352
  • X-linked chondrodysplasia punctata 2
  • Aliases:
    • Conradi-Hunermann Syndrome
    • Happle syndrome
Homo sapiens (human)
DOID:0080200
  • bilateral renal aplasia
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024