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 6626 - 6650 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110284
  • autosomal recessive limb-girdle muscular dystrophy type 2L
  • Aliases:
    • LGMD2L
    • muscular dystrophy, limb-girdle, type 2L
Homo sapiens (human)
DOID:0111533
  • gnathodiaphyseal dysplasia
  • Aliases:
    • GDD
    • Levin syndrome 2
    • gnathodiaphyseal sclerosis
    • osteogenesis imperfecta with unusual skeletal lesions
    • osteogenesis imperfecta, Levin type
Homo sapiens (human)
DOID:0070201
  • Miyoshi muscular dystrophy 3
  • Aliases:
    • MMD3
    • Miyoshi myopathy 3
Homo sapiens (human)
DOID:0111338
  • isolated elevated serum creatine phosphokinase levels
  • Aliases:
    • elevated serum CPK
    • idiopathic hyperCKemia
    • isolated hyperCKemia
Homo sapiens (human)
DOID:0090034
  • myoclonic dystonia 11
Mus musculus (house mouse)
DOID:0060020
  • reticular dysgenesis
  • Aliases:
    • De Vaal disease
Homo sapiens (human)
DOID:0060718
  • autosomal recessive congenital ichthyosis 9
  • Aliases:
    • ARCI9
Homo sapiens (human)
DOID:0111564
  • hypoplastic or aplastic tibia with polydactyly
  • Aliases:
    • Werner mesomelic syndrome
    • absence of tibia with polydactyly
    • absent tibia-polydactyly syndrome
    • hypoplastic tibiae-postaxial polydactyly syndrome
    • tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Mus musculus (house mouse)
DOID:0111380
  • solitary median maxillary central incisor
  • Aliases:
    • SMMCI
    • fused incisors
    • single central maxillary incisor
    • single median maxillary central incisor
    • single upper central incisor
Mus musculus (house mouse)
DOID:0111818
  • syndactyly type 4
  • Aliases:
    • Haas type syndactyly
    • SDTY4
    • polysyndactyly, Haas type
Mus musculus (house mouse)
DOID:0110875
  • holoprosencephaly 3
  • Aliases:
    • HLP3
    • HPE3
Mus musculus (house mouse)
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Mus musculus (house mouse)
DOID:0080414
  • developmental and epileptic encephalopathy 15
  • Aliases:
    • DEE15
    • early infantile epileptic encephalopathy 15
Mus musculus (house mouse)
DOID:0060470
  • salt and pepper syndrome
  • Aliases:
    • salt & pepper syndrome
    • salt-and-pepper syndrome
Mus musculus (house mouse)
DOID:0060395
  • chromosome 15q24 deletion syndrome
  • Aliases:
    • 15q24 microdeletion syndrome
Mus musculus (house mouse)
DOID:0080685
  • aortic dissection
Homo sapiens (human)
DOID:11722
  • myotonic dystrophy type 1
  • Aliases:
    • Dystrophia myotonica
    • Steinert disease
    • congenital myotonic dystrophy
    • myotonic dystrophy of Steinert
Mus musculus (house mouse)
DOID:2218
  • blood platelet disease
  • Aliases:
    • Thrombocytopathy
    • platelet disorder
Homo sapiens (human)
DOID:445
  • Bartter disease
  • Aliases:
    • Aldosteronism with hyperplasia of the adrenal cortex
    • Bartter's syndrome
Mus musculus (house mouse)
DOID:0110142
  • Bartter disease type 1
  • Aliases:
    • BARTS1
    • Bartter syndrome type 1
    • Bartter syndrome type 1 antenatal
    • hyperprostaglandin E syndrome 1
    • hypokalemic alkalosis with hypercalciuria 1 antenatal
Mus musculus (house mouse)
DOID:0112159
  • autosomal dominant nonsyndromic deafness 78
  • Aliases:
    • DFNA78
Mus musculus (house mouse)
DOID:264
  • hemangiopericytoma
  • Aliases:
    • Haemangiopericytic meningioma
    • hemangiopericytoma, malignant
    • malignant hemangiopericytoma
Homo sapiens (human)
DOID:75
  • lymphatic system disease
  • Aliases:
    • Lymphangiopathy
    • Lymphatic disease
    • disease of lympoid system
    • disorder of lymph node and lymphatics
    • disorder of lymphatic system
    • disorder of lymphoid system
    • lymphatic disorder
    • lympoid system disease
Homo sapiens (human)
DOID:0081030
  • central conducting lymphatic anomaly
  • Aliases:
    • lymphatic malformation-7
Homo sapiens (human)
DOID:0080077
  • hypophosphatemic nephrolithiasis/osteoporosis 1
Mus musculus (house mouse)

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Last updated: December 9, 2024