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 14451 - 14475 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0070529
  • Sifrim-Hitz-Weiss syndrome
  • Aliases:
    • CHD4 Neurodevelopmental Disorder
    • CHD4-related neurodevelopmental disorder
    • CHD4-related neurodevelopmental syndrome
    • SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
    • SIHIWES
Homo sapiens (human)
DOID:0060480
  • left ventricular noncompaction
  • Aliases:
    • left ventricular hypertrabeculation
Homo sapiens (human)
DOID:1993
  • rectum cancer
  • Aliases:
    • carcinoma of rectum
    • carcinoma of the rectum
    • malignant Rectal tumor
    • malignant neoplasm of rectum
    • malignant rectum tumor
    • malignant tumor of rectum
    • rectal cancer
Homo sapiens (human)
DOID:0110486
  • autosomal recessive nonsyndromic deafness 28
  • Aliases:
    • DFNB28
    • autosomal recessive deafness 28
Homo sapiens (human)
DOID:4483
  • rhinitis
Mus musculus (house mouse)
DOID:3083
  • chronic obstructive pulmonary disease
  • Aliases:
    • COLD
    • COPD
    • chronic obstructive airway disease
    • chronic obstructive lung disease
Mus musculus (house mouse)
DOID:0060404
  • chromosome 17q12 deletion syndrome
  • Aliases:
    • 17q12 microdeletion syndrome
Homo sapiens (human)
DOID:4905
  • pancreatic carcinoma
  • Aliases:
    • Exocrine pancreas carcinoma
    • carcinoma of pancreas
Homo sapiens (human)
DOID:0070519
  • early-onset vitamin B6-dependent epilepsy 4
  • Aliases:
    • AASA dehydrogenase deficiency
    • EPEO4
    • PDE-ALDH7A1
    • antiquitin deficiency
Mus musculus (house mouse)
DOID:0080768
  • pyridoxine-dependent epilepsy
Mus musculus (house mouse)
DOID:0050477
  • Liddle syndrome
  • Aliases:
    • Liddle's syndrome
    • Pseudoaldosteronism
Homo sapiens (human)
DOID:0081325
  • developmental and epileptic encephalopathy 94
Homo sapiens (human)
DOID:0050834
  • CHARGE syndrome
  • Aliases:
    • CHARGE association
Homo sapiens (human)
DOID:0060475
  • myoclonic-atonic epilepsy
  • Aliases:
    • EEOC
    • childhood onset epileptic encephalopathy
Homo sapiens (human)
DOID:525
  • central nervous system vasculitis
Mus musculus (house mouse)
DOID:419
  • scleroderma
  • Aliases:
    • dermatosclerosis
Mus musculus (house mouse)
DOID:1761
  • Melkersson-Rosenthal syndrome
  • Aliases:
    • Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal
    • Melkersson's syndrome
Mus musculus (house mouse)
DOID:0111286
  • psoriasis 1
  • Aliases:
    • PSORS1
Mus musculus (house mouse)
DOID:0080160
  • Cytomegalovirus retinitis
  • Aliases:
    • CMV retinitis
Mus musculus (house mouse)
DOID:3875
  • thrombophlebitis
  • Aliases:
    • Phlebitis and thrombophlebitis of superficial vessels of lower extremities
    • Superficial thrombophlebitis of leg
    • Thrombophlebitis of a superficial leg vein
    • Thrombophlebitis of superficial veins of lower extremity
Mus musculus (house mouse)
DOID:2703
  • synovitis
Mus musculus (house mouse)
DOID:11563
  • retinal vasculitis
Mus musculus (house mouse)
DOID:0111079
  • birdshot chorioretinopathy
  • Aliases:
    • BSCR
    • birdshot chorioretinitis
    • birdshot retinochoroiditis
    • birdshot retinochoroidopathy
    • vitiliginous choroiditis
Mus musculus (house mouse)
DOID:11265
  • trachoma
  • Aliases:
    • active stage trachoma
    • trachoma dubium
Mus musculus (house mouse)
DOID:3611
  • acute retinal necrosis syndrome
  • Aliases:
    • acute retinal necrosis
Mus musculus (house mouse)

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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: December 9, 2024