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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 2426 - 2450 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0080439
  • developmental and epileptic encephalopathy 14
  • Aliases:
    • DEE14
    • early infantile epileptic encephalopathy 14
Rattus norvegicus (Norway rat)
DOID:0060686
  • autosomal dominant nocturnal frontal lobe epilepsy 5
  • Aliases:
    • ENFL5
    • nocturnal frontal lobe epilepsy 5
Rattus norvegicus (Norway rat)
DOID:0110590
  • autosomal dominant nonsyndromic deafness 69
  • Aliases:
    • DCUA
    • DFNA69
    • autosomal dominant deafness 69
    • unilateral or asymmetric congenital deafness
Rattus norvegicus (Norway rat)
DOID:0111373
  • familial progressive hyperpigmentation with or without hypopigmentation
  • Aliases:
    • FPHH
    • MUH
    • melanosis universalis hereditaria
Rattus norvegicus (Norway rat)
DOID:0110672
  • congenital myasthenic syndrome 21
  • Aliases:
    • CMS21
    • congenital myasthenic syndrome 21, presynaptic
Rattus norvegicus (Norway rat)
DOID:0111594
  • distal arthrogryposis type 5D
  • Aliases:
    • DA5D
    • distal arthrogryposis type 5 without ophthalmoparesis
    • distal arthrogryposis type 5 without ophthalmoplegia
Rattus norvegicus (Norway rat)
DOID:0111332
  • Pitt-Hopkins-like syndrome 2
  • Aliases:
    • PTHSL2
Rattus norvegicus (Norway rat)
DOID:4897
  • bile duct carcinoma
Rattus norvegicus (Norway rat)
DOID:26
  • pancreas disease
Rattus norvegicus (Norway rat)
DOID:2211
  • factor XIII deficiency
  • Aliases:
    • Factor XIII deficiency disease
    • Hereditary factor XIII deficiency disease
    • deficiency, Laki-Lorand factor
Rattus norvegicus (Norway rat)
DOID:9286
  • priapism
  • Aliases:
    • Mentulagra
Rattus norvegicus (Norway rat)
DOID:0111907
  • thrombophilia due to thrombin defect
  • Aliases:
    • THPH1
    • prothrombin-related thrombophilia
    • thrombophilia due to factor 2 defect
Rattus norvegicus (Norway rat)
DOID:0111015
  • Newfoundland cone-rod dystrophy
  • Aliases:
    • NFRCD
Homo sapiens (human)
DOID:0050683
  • Bothnia retinal dystrophy
  • Aliases:
    • Vasterbotten dystrophy
Homo sapiens (human)
DOID:0070416
  • Luo-Schoch-Yamamoto syndrome
  • Aliases:
    • LUSYAM
Homo sapiens (human)
DOID:0110713
  • Oguchi disease-2
  • Aliases:
    • CSNBO2
    • congenital stationary night blindness Oguchi type 2
Homo sapiens (human)
DOID:0110372
  • retinitis pigmentosa 4
  • Aliases:
    • RP4
Homo sapiens (human)
DOID:0110862
  • congenital stationary night blindness autosomal dominant 1
  • Aliases:
    • CSNBAD1
    • rhodopsin-related congenital stationary night blindness
Homo sapiens (human)
DOID:0111562
  • overhydrated hereditary stomatocytosis
  • Aliases:
    • OHS
    • potassium sodium disorder of erythrocyte
    • stomatocytosisIOHST
Homo sapiens (human)
DOID:0050641
  • Rh deficiency syndrome
Homo sapiens (human)
DOID:0110317
  • hypertrophic cardiomyopathy 11
  • Aliases:
    • CMH11
    • cardiomyopathy familial hypertrophic 11
Homo sapiens (human)
DOID:12528
  • lesion of sciatic nerve
Homo sapiens (human)
DOID:0110394
  • retinitis pigmentosa 44
  • Aliases:
    • RP44
Homo sapiens (human)
DOID:10016
  • multiple endocrine neoplasia type 2B
  • Aliases:
    • MEN type IIB
    • MEN2B
    • Multiple endocrine neoplasia, type 3
    • Wagenmann-Froboese syndrome
    • mucosal neuroma syndrome
Homo sapiens (human)
DOID:0050430
  • multiple endocrine neoplasia type 2A
  • Aliases:
    • MEN2A
    • Sipple syndrome
    • multiple endocrine neoplasia II
Homo sapiens (human)
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Last updated: December 9, 2024