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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 1251 - 1275 of 4649 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism Source
DOID:0070248
  • autosomal recessive Emery-Dreifuss muscular dystrophy 3
  • Aliases:
    • EDMD3
    • Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Homo sapiens (human)
DOID:0060764
  • autosomal recessive Robinow syndrome
  • Aliases:
    • COVESDEM syndrome
    • RRS
    • costovertebral segmentation defect-mesomelia syndrome
Homo sapiens (human)
DOID:0111216
  • autosomal recessive centronuclear myopathy
  • Aliases:
    • AR-CNM
Homo sapiens (human)
DOID:0050950
  • autosomal recessive cerebellar ataxia
Homo sapiens (human)
DOID:0111864
  • autosomal recessive congenital bilateral absence of vas deferens
Homo sapiens (human)
DOID:0060656
  • autosomal recessive congenital ichthyosis 1
  • Aliases:
    • ARCI1
Homo sapiens (human)
DOID:0060720
  • autosomal recessive congenital ichthyosis 11
  • Aliases:
    • IFAH syndrome
    • IHS
    • autosomal recessive ichthyosis with hypotrichosis
    • hypotrichosis-congenital ichthyosis syndrome
    • ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis
    • ichthyosis-follicular atrophoderma-hypotrichosis syndrome
    • ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
    • ichthyosis-hypotrichosis syndrome
Homo sapiens (human)
DOID:0080257
  • autosomal recessive congenital ichthyosis 13
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: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:0060715
  • autosomal recessive congenital ichthyosis 6
  • Aliases:
    • ARCI6
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:0111797
  • autosomal recessive congenital nystagmus
  • Aliases:
    • autosomal recessive congenital motor nystagmus
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:0070139
  • autosomal recessive cutis laxa type IC
  • Aliases:
    • ARCL1C
    • autosomal recessive cutis laxa type 1C
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:0070143
  • autosomal recessive cutis laxa type III
  • Aliases:
    • De Barsy syndrome
    • cutis laxa-corneal clouding-intellectual disability syndrome
Homo sapiens (human)
DOID:0070132
  • autosomal recessive cutis laxa type IIIA
  • Aliases:
    • ARCL3A
    • De Barsy syndrome A
Homo sapiens (human)
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Last updated: February 17, 2025