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 4201 - 4225 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:0110199
  • Charcot-Marie-Tooth disease dominant intermediate C
  • Aliases:
    • CMTDIC
    • Charcot-Marie-Tooth neuropathy dominant intermediate C
    • DI-CMTC
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Homo sapiens (human)
DOID:0110066
  • amelogenesis imperfecta type 1G
  • Aliases:
    • AI1G
    • AIGFS
    • ERS
    • amelogenesis imperfecta and gingival fibromatosis syndrome
    • amelogenesis imperfecta hypoplastic with nephrocalcinosis
    • amelogenesis imperfecta type IG
    • enamel-renal syndrome
    • enamel-renal-gingival syndrome
Homo sapiens (human)
DOID:4308
  • polyradiculoneuropathy
Homo sapiens (human)
DOID:0050547
  • familial medullary thyroid carcinoma
  • Aliases:
    • THYROID CARCINOMA, FAMILIAL MEDULLARY
Homo sapiens (human)
DOID:10952
  • nephritis
Homo sapiens (human)
DOID:0060248
  • Simpson-Golabi-Behmel syndrome type 1
  • Aliases:
    • DGSX Golabi-Rosen syndrome
    • Golabi-Rosen syndrome
    • SGB syndrome
    • Sara Angers syndrome
    • Simpson dysmorphia syndrome
    • X-linked dysplasia gigantism syndrome
    • bulldog syndrome
Homo sapiens (human)
DOID:4795
  • GM2 gangliosidosis, AB variant
  • Aliases:
    • Tay-Sachs disease AB variant
    • Tay-Sachs disease, variant AB
Homo sapiens (human)
DOID:9655
  • oral mucosa leukoplakia
Homo sapiens (human)
DOID:0060774
  • congenital diarrhea
Homo sapiens (human)
DOID:0080210
  • primary mediastinal B-cell lymphoma
  • Aliases:
    • Large cell lymphoma of the mediastinum
    • Mediastinal diffuse large-cell lymphoma with sclerosis
    • Primary mediastinal clear cell lymphoma of B-cell type
Homo sapiens (human)
DOID:10964
  • cholesteatoma of middle ear
  • Aliases:
    • Cholesteatoma of middle ear and mastoid
    • Cholesteatoma of middle ear and/or mastoid
    • Cholesteatoma of the middle ear
    • Epidermosis of ear
    • Epidermosis of middle ear
    • middle ear cholesteatoma
Homo sapiens (human)
DOID:9808
  • Goodpasture syndrome
  • Aliases:
    • anti-GBM disease
    • anti-glomerular basement membrane disease
Homo sapiens (human)
DOID:7061
  • obsolete precursor B lymphoblastic lymphoma/leukemia
Homo sapiens (human)
DOID:0050471
  • Carney complex
  • Aliases:
    • Carney Complex, Type 1
    • Carney Complex, Type 2
    • Carney Syndrome
    • Carney complex variant
    • LAMB Syndrome
    • NAME Syndrome
Homo sapiens (human)
DOID:1963
  • fallopian tube carcinoma
  • Aliases:
    • cancer of the fallopian tube
    • carcinoma of fallopian tube
    • fallopian tube Ca
Homo sapiens (human)
DOID:809
  • cocaine abuse
Homo sapiens (human)
DOID:5855
  • anteroseptal myocardial infarction
Homo sapiens (human)
DOID:0110274
  • autosomal recessive limb-girdle muscular dystrophy
Homo sapiens (human)
DOID:3973
  • thyroid gland medullary carcinoma
  • Aliases:
    • Medullary carcinoma of the Thyroid gland
    • Ultimobranchial thyroid tumor
    • Ultimobranchial thyroid tumour
    • medullary thyroid carcinoma
Homo sapiens (human)
DOID:0060358
  • multiple acyl-CoA dehydrogenase deficiency
  • Aliases:
    • MAD deficiency
    • MADD
    • electron transfer flavoprotein deficiency
    • electron transfer flavoprotein ubiquinone oxidoreductase deficiency
    • glutaric acidemia type 2
    • glutaric aciduria type 2
Homo sapiens (human)
DOID:9428
  • intracranial hypertension
  • Aliases:
    • Raised intracranial pressure
Homo sapiens (human)
DOID:9182
  • pemphigus
Homo sapiens (human)
DOID:0110096
  • short-rib thoracic dysplasia 14 with polydactyly
  • Aliases:
    • SRTD14
Homo sapiens (human)
DOID:0050759
  • myotonic dystrophy type 2
Homo sapiens (human)
DOID:9621
  • non-congenital cyst of kidney
Homo sapiens (human)

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Last updated: August 19, 2024