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 11776 - 11800 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0080133
  • multiple mitochondrial dysfunctions syndrome 1
  • Aliases:
    • NFU1 deficiency
Mus musculus (house mouse)
DOID:0112219
  • developmental and epileptic encephalopathy 84
  • Aliases:
    • DEE84
    • Jamuar syndrome
    • early infantile epileptic encephalopathy 84
Mus musculus (house mouse)
DOID:6212
  • ovarian endometrial cancer
  • Aliases:
    • endometrioid neoplasm of Ovary
    • malignant ovarian endometrioid tumor
    • ovarian endometrioid neoplasm
Mus musculus (house mouse)
DOID:0050566
  • X-linked nonsyndromic deafness
  • Aliases:
    • X-linked deafness
Mus musculus (house mouse)
DOID:0081368
  • Paget's disease of bone 5
  • Aliases:
    • Familial osteoectasia
    • Hereditary hyperphosphatasia
    • Hyperostosis corticalis deformans juvenilis
    • Juvenile Paget disease
    • Paget disease of bone-5
Mus musculus (house mouse)
DOID:10966
  • lipoid nephrosis
  • Aliases:
    • Minimal Change Glomerulonephritis
    • Minimal change disease
    • Nephrotic syndrome with lesion of minimal change glomerulonephritis
    • Nephrotic syndrome with lesion of minimal change nephrotic syndrome
Mus musculus (house mouse)
DOID:0110909
  • inflammatory bowel disease 25
  • Aliases:
    • IBD25
    • early onset autosomal recessive inflammatory bowel disease 25
Mus musculus (house mouse)
DOID:0111900
  • autosomal dominant thrombophilia due to protein S deficiency
  • Aliases:
    • THPH5
Mus musculus (house mouse)
DOID:0112173
  • combined deficiency of vitamin K-dependent clotting factors 1
  • Aliases:
    • VKCFD1
Mus musculus (house mouse)
DOID:1790
  • malignant mesothelioma
  • Aliases:
    • Diffuse malignant Mesothelioma
    • advanced malignant mesothelioma
    • asbestos-related malignant mesothelioma
    • malignant tumor of Mesothelium
Mus musculus (house mouse)
DOID:0110367
  • retinitis pigmentosa 38
  • Aliases:
    • RP38
Mus musculus (house mouse)
DOID:1035
  • aggressive NK-cell leukemia
  • Aliases:
    • aggressive NK-cell leukaemia
    • large granular Lymphocyte Leukemia, NK-cell type
    • natural killer cell leukaemia
    • natural killer cell leukemia
Mus musculus (house mouse)
DOID:801
  • hemarthrosis
  • Aliases:
    • Haemarthrosis of shoulder joint
    • Haemarthrosis of the ankle and foot
    • Haemarthrosis of the pelvic region and thigh
    • Hemarthrosis involving ankle and foot
    • Hemarthrosis involving forearm
    • Hemarthrosis involving hand
    • Hemarthrosis involving lower leg
    • Hemarthrosis involving pelvic region and thigh
    • Hemarthrosis involving shoulder region
    • Hemarthrosis involving upper arm
    • Hemarthrosis of ankle and/or foot
    • Hemarthrosis of forearm
    • Hemarthrosis of hand
    • Hemarthrosis of lower leg
    • Hemarthrosis of shoulder
    • Hemarthrosis of shoulder region
    • Hemarthrosis of the ankle and foot
    • Hemarthrosis of the ankle and/or foot
    • Hemarthrosis of the forearm
    • Hemarthrosis of the hand
    • Hemarthrosis of the lower leg
    • Hemarthrosis of the pelvic region and thigh
    • Hemarthrosis of the shoulder region
    • Hemarthrosis of the upper arm
    • Hemarthrosis of upper arm
Mus musculus (house mouse)
DOID:0111730
  • familial episodic pain syndrome 2
  • Aliases:
    • FEPS2
Mus musculus (house mouse)
DOID:0111864
  • autosomal recessive congenital bilateral absence of vas deferens
Mus musculus (house mouse)
DOID:0060957
  • myoclonic dystonia 34
Mus musculus (house mouse)
DOID:0111976
  • immunodeficiency 9
  • Aliases:
    • CID due to ORAI1 deficiency
    • IMD9
    • combined immunodeficiency due to ORAI1 deficiency
    • immune dysfunction with T-cell inactivation due to calcium entry defect 1
Mus musculus (house mouse)
DOID:0050963
  • spinocerebellar ataxia type 13
Mus musculus (house mouse)
DOID:0060180
  • colitis
Mus musculus (house mouse)
DOID:61
  • mitral valve disease
  • Aliases:
    • Mitral RH valve dis.
    • Rheumatic mitral insufficiency
    • Rheumatic mitral valve changes
    • Rheumatic mitral valve regurgitation
    • chronic rheumatic mitral valve
    • disease of mitral valve
    • rheumatic disease of mitral valve
    • rheumatic mitral valve incompetence
Mus musculus (house mouse)
DOID:4183
  • pseudopseudohypoparathyroidism
  • Aliases:
    • Normocalcemic pseudohypoparathyroidism
Mus musculus (house mouse)
DOID:2772
  • irritant dermatitis
  • Aliases:
    • irritant contact dermatitis
    • primary irritant dermatitis
Mus musculus (house mouse)
DOID:0111649
  • ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
  • Aliases:
    • EEM syndrome
    • EEMS
    • ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
Mus musculus (house mouse)
DOID:3981
  • pantothenate kinase-associated neurodegeneration
  • Aliases:
    • Hallervorden-Spatz disease
    • Hallervorden-Spatz syndrome
    • NBIA1
    • Pigmentary pallidal degeneration
    • brain Iron Accumulation type I syndrome
    • neurodegeneration with brain iron accumulation 1
Mus musculus (house mouse)
DOID:0110030
  • alpha thalassemia-X-linked intellectual disability syndrome
  • Aliases:
    • ATR, nondeletion type
    • ATR-X syndrome
    • alpha-thalassemia/mental retardation syndrome nondeletion type
Mus musculus (house mouse)

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Last updated: December 9, 2024