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 6176 - 6200 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0060210
  • amyotrophic lateral sclerosis type 19
  • Aliases:
    • ALS19
    • amyotrophic lateral sclerosis 19
Homo sapiens (human)
DOID:0080556
  • congenital disorder of glycosylation Id
  • Aliases:
    • congenital disorder of glycosylation 1d
Homo sapiens (human)
DOID:225
  • syndrome
Homo sapiens (human)
DOID:0050569
  • Seckel syndrome
  • Aliases:
    • Harper's syndrome
    • Virchow-Seckel dwarfism
    • bird-headed dwarfism
    • microcephalic primordial dwarfism
Homo sapiens (human)
DOID:0060796
  • hypomyelinating leukodystrophy 12
  • Aliases:
    • HLD12
Homo sapiens (human)
DOID:9631
  • Pelger-Huet anomaly
Homo sapiens (human)
DOID:14780
  • KBG syndrome
Homo sapiens (human)
DOID:12241
  • beta thalassemia
Homo sapiens (human)
DOID:0080588
  • agammaglobulinemia 5
Homo sapiens (human)
DOID:0060647
  • fetal encasement syndrome
  • Aliases:
    • cocoon syndrome
Homo sapiens (human)
DOID:0111331
  • intellectual disability-severe speech delay-mild dysmorphism syndrome
  • Aliases:
    • FOXP1 Haploinsufficiency
    • FOXP1 syndrome
    • FOXP1-Related Neurodevelopmental Disorder
    • Mental retardation with language impairment and with or without autistic features
Homo sapiens (human)
DOID:8946
  • severe nonproliferative diabetic retinopathy
  • Aliases:
    • High risk non proliferative diabetic retinopathy
    • Severe NPDR
Homo sapiens (human)
DOID:0111232
  • congenital muscular dystrophy-dystroglycanopathy type A9
  • Aliases:
    • MDDGA9
    • Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
Homo sapiens (human)
DOID:0060488
  • Pitt-Hopkins syndrome
Homo sapiens (human)
DOID:612
  • primary immunodeficiency disease
  • Aliases:
    • hypoimmunity
    • immune deficiency disorder
    • immunodeficiency syndrome
Homo sapiens (human)
DOID:3507
  • dermatofibrosarcoma protuberans
Homo sapiens (human)
DOID:0111308
  • familial febrile seizures 11
  • Aliases:
    • FEB11
    • familial febrile convulsions 11
Homo sapiens (human)
DOID:1577
  • limited scleroderma
  • Aliases:
    • Limited cutaneous systemic sclerosis
    • systemic sclerosis, limited
Homo sapiens (human)
DOID:0060883
  • intestinal hypomagnesemia 1
  • Aliases:
    • HOMG1
    • hypomagnesemia caused by selective magnesium malabsorption
    • hypomagnesemia intestinal type 1
    • hypomagnesemic tetany
    • intestinal hypomagnesemia with secondary hypocalcemia
    • primary hypomagnesemia with secondary hypocalcemia
Homo sapiens (human)
DOID:14069
  • cerebral malaria
  • Aliases:
    • Malarial encephalitis
Homo sapiens (human)
DOID:0070292
  • primary autosomal recessive microcephaly 9
  • Aliases:
    • MCPH9
Homo sapiens (human)
DOID:8568
  • infectious mononucleosis
  • Aliases:
    • Filatov's disease
    • Gammaherpesviral mononucleosis
    • Monocytic angina
    • Pfeiffer's disease
    • glandular fever
    • mononucleosis
Homo sapiens (human)
DOID:3805
  • porokeratosis
  • Aliases:
    • disseminated superficial actinic porokeratosis
Homo sapiens (human)
DOID:0080948
  • agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Homo sapiens (human)
DOID:0080930
  • primary localized cutaneous amyloidosis 1
  • Aliases:
    • familial primary localized cutaneous amyloidosis-1
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: December 9, 2024