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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 226 - 250 of 5716 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0111194
  • autosomal dominant adult-onset proximal spinal muscular atrophy
  • Aliases:
    • Finkel disease
    • Finkel late-adult type SMA
    • SMAFK
    • autosomal dominant adult proximal spinal muscular atrophy
    • autosomal dominant adult-onset proximal SMA
    • autosomal dominant late-onset spinal muscular atrophy, Finkel type
Homo sapiens (human)
DOID:12932
  • endomyocardial fibrosis
  • Aliases:
    • African endomyocardial fibrosis
    • Becker's disease
    • Endomyocardial sclerosis
    • obscure African cardiomyopathy
Rattus norvegicus (Norway rat)
DOID:0081169
  • Leber congenital amaurosis 19
Mus musculus (house mouse)
DOID:0110838
  • Usher syndrome type 2A
  • Aliases:
    • USH2A
    • Usher syndrome type IIA
Mus musculus (house mouse)
DOID:9620
  • vesicoureteral reflux
  • Aliases:
    • vesico-ureteral reflux
Mus musculus (house mouse)
DOID:0060062
  • familial juvenile hyperuricemic nephropathy
Mus musculus (house mouse)
DOID:3803
  • Crigler-Najjar syndrome
  • Aliases:
    • Bilirubin UDP glucuronyl transferase deficiency
    • Crigler Najjar syndrome
    • Crigler-Najjar syndrome, type I
Rattus norvegicus (Norway rat)
DOID:0070187
  • Y-linked spermatogenic failure 2
  • Aliases:
    • SPGFY2
    • nonobstructive Y-linked spermatogenic failure
Homo sapiens (human)
DOID:0112025
  • female-restricted syndromic X-linked intellectual disability 99
  • Aliases:
    • MRXS99F
    • X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
    • female-restricted syndromic X-linked mental retardation 99
Homo sapiens (human)
DOID:0112026
  • non-syndromic X-linked intellectual disability 99
  • Aliases:
    • MRX99
    • X-linked mental retardation 99
Homo sapiens (human)
DOID:7004
  • ACTH-secreting pituitary adenoma
  • Aliases:
    • ACTH-Producing Pituitary Adenoma
    • Corticotroph adenoma
    • Corticotropinoma
Homo sapiens (human)
DOID:0070605
  • autosomal dominant nonsyndromic deafness 85
  • Aliases:
    • DFNA85
    • autosomal dominant deafness 85
Homo sapiens (human)
DOID:0070597
  • X-linked spermatogenic failure 6
  • Aliases:
    • SPGFX6
Homo sapiens (human)
DOID:0110360
  • retinitis pigmentosa 39
  • Aliases:
    • RP39
Homo sapiens (human)
DOID:0050563
  • nonsyndromic deafness
  • Aliases:
    • nonsyndromic hearing loss
    • nonsyndromic hereditary hearing loss
Homo sapiens (human)
DOID:0110827
  • Usher syndrome type 2
  • Aliases:
    • USH2
Homo sapiens (human)
DOID:13271
  • cutaneous porphyria
  • Aliases:
    • Erythropoietic porphyria
Homo sapiens (human)
DOID:0112180
  • urocanase deficiency
  • Aliases:
    • UROCD
    • encephalopathy due to urocanase deficiency
    • high urine urocanic acid levels
    • urocanate hydratase deficiency
    • urocanic aciduria
Homo sapiens (human)
DOID:0111139
  • mitochondrial complex III deficiency
Homo sapiens (human)
DOID:0080114
  • mitochondrial complex III deficiency nuclear type 5
Homo sapiens (human)
DOID:0080118
  • mitochondrial complex III deficiency nuclear type 9
Homo sapiens (human)
DOID:0060821
  • syndromic X-linked intellectual disability 14
  • Aliases:
    • mental retardation, X-linked, syndromic 14
Homo sapiens (human)
DOID:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Homo sapiens (human)
DOID:0110923
  • familial hemophagocytic lymphohistiocytosis 3
  • Aliases:
    • FHL3
    • HLH3
    • HPLH3
Homo sapiens (human)
DOID:0050833
  • orotic aciduria
Homo sapiens (human)
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Last updated: April 7, 2025