GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1101 - 1125 of 4621 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism
DOID:0070192
  • autosomal recessive chronic granulomatous disease 1
  • Aliases:
    • CDG1
    • autosomal recessive chronic granulomatous disease cytochrome b-positive type I
    • chronic granulomatous disease due to deficiency of NCF-1
    • deficiency of NCF1
    • deficiency of SOC2
    • deficiency of neutrophil cytosol factor 1
    • deficiency of p47-PHOX
    • deficiency of soluble oxidase component II
Homo sapiens (human)
DOID:0070194
  • autosomal recessive chronic granulomatous disease 3
  • Aliases:
    • CDG3
    • autosomal recessive chronic granulomatous disease cytochrome b-positive type III
    • autosomal recessive cytochrome b-positive CGD type III
    • chronic granulomatous disease due to NCF4 deficiency
Homo sapiens (human)
DOID:0060656
  • autosomal recessive congenital ichthyosis 1
  • Aliases:
    • ARCI1
Homo sapiens (human)
DOID:0060719
  • autosomal recessive congenital ichthyosis 10
  • Aliases:
    • ARCI10
Homo sapiens (human)
DOID:0080258
  • autosomal recessive congenital ichthyosis 14
Homo sapiens (human)
DOID:0060710
  • autosomal recessive congenital ichthyosis 2
  • Aliases:
    • ARCI2
    • BROCQ congenital ichthyosiform erythroderma nonbullous form
    • NCIE1
    • nonbullous congenital ichthyosiform erythroderma 1
Homo sapiens (human)
DOID:0060711
  • autosomal recessive congenital ichthyosis 3
  • Aliases:
    • ARCI3
    • lamellar ichthyosis 5
Homo sapiens (human)
DOID:0060712
  • autosomal recessive congenital ichthyosis 4A
  • Aliases:
    • ARCI4A
    • ICR2B
    • ichthyosis congenita IIB
    • lamellar ichthyosis 2
Homo sapiens (human)
DOID:0060713
  • autosomal recessive congenital ichthyosis 4B
  • Aliases:
    • ARCI4B
    • harlequin ichthyosis
    • harlequin type ichthyosis congenita
    • harlequin type ichthyosis fetalis
Homo sapiens (human)
DOID:0060714
  • autosomal recessive congenital ichthyosis 5
  • Aliases:
    • ARCI5
    • autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis
Homo sapiens (human)
DOID:0060715
  • autosomal recessive congenital ichthyosis 6
  • Aliases:
    • ARCI6
Homo sapiens (human)
DOID:0060716
  • autosomal recessive congenital ichthyosis 7
  • Aliases:
    • ARCI7
Homo sapiens (human)
DOID:0060717
  • autosomal recessive congenital ichthyosis 8
  • Aliases:
    • ARCI8
    • lamellar ichthyosis 4
    • late-onset lamellar ichthyosis
Homo sapiens (human)
DOID:0060718
  • autosomal recessive congenital ichthyosis 9
  • Aliases:
    • ARCI9
Homo sapiens (human)
DOID:0060655
  • autosomal recessive congenital ichthyosis
  • Aliases:
    • ARCI
    • lamellar ichthyosis
    • non bullous congenital ichthyosiform erythroderma
Homo sapiens (human)
DOID:0070135
  • autosomal recessive cutis laxa type IA
  • Aliases:
    • ARCL1A
Homo sapiens (human)
DOID:0070133
  • autosomal recessive cutis laxa type IB
  • Aliases:
    • ARCL1B
Homo sapiens (human)
DOID:0070141
  • autosomal recessive cutis laxa type II classic type
  • Aliases:
    • ARCL2, Debre type
    • ARCL2, classic type
Homo sapiens (human)
DOID:0070134
  • autosomal recessive cutis laxa type IIA
  • Aliases:
    • ARCL2A
Homo sapiens (human)
DOID:0070137
  • autosomal recessive cutis laxa type IIB
  • Aliases:
    • ARCL2, progeroid type
    • ARCL2B
Homo sapiens (human)
DOID:0070140
  • autosomal recessive cutis laxa type IIC
Homo sapiens (human)
DOID:0070129
  • autosomal recessive cutis laxa type IID
  • Aliases:
    • ARCL2D
Homo sapiens (human)
DOID:0070132
  • autosomal recessive cutis laxa type IIIA
  • Aliases:
    • ARCL3A
    • De Barsy syndrome A
Homo sapiens (human)
DOID:0070138
  • autosomal recessive cutis laxa type IIIB
  • Aliases:
    • ARCL3B
    • De Barsy syndrome B
Homo sapiens (human)
DOID:0111064
  • autosomal recessive distal hereditary motor neuronopathy 1
  • Aliases:
    • DSMA1
    • SIANRF
    • SMARD1
    • autosomal recessive distal spinal muscular atrophy 1
    • autosomal recessive spinal muscular atrophy with respiratory distress
    • dHMN6
    • diaphragmatic spinal muscular atrophy
    • distal hereditary motor neuropathy type 6
    • distal spinal muscular atrophy 1
    • distal-HMN type 6
    • severe infantile axonal neuropathy with respiratory failure type 1
    • spinal muscular atrophy with respiratory distress type 1
Homo sapiens (human)

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Last updated: August 19, 2024