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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 11576 - 11600 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0060479
  • Shwachman-Diamond syndrome
  • Aliases:
    • Shwachman syndrome
    • Shwachman-Bodian-Diamond syndrome
    • Shwachman-Diamond type metaphyseal dysplasia
    • pancreatic insufficiency and bone marrow dysfunction
Mus musculus (house mouse)
DOID:6612
  • leukocyte adhesion deficiency
  • Aliases:
    • Congenital leukocyte adherence deficiency
Mus musculus (house mouse)
DOID:0110910
  • leukocyte adhesion deficiency 1
  • Aliases:
    • LAD1
    • LFA1 immunodeficiency
    • leukocyte adhesion deficiency type I
    • lymphocyte function-associated antigen 1 immunodeficiency
Mus musculus (house mouse)
DOID:13042
  • persistent fetal circulation syndrome
  • Aliases:
    • Fetal circulation
    • Persistent fetal circulation
    • Persistent foetal circulation
    • congenital alveolar capillary dysplasia with misalignment of pulmonary veins
    • persistent foetal circulation syndrome
    • persistent pulmonary hypertension of the newborn
Mus musculus (house mouse)
DOID:0080866
  • primary ovarian insufficiency 9
Homo sapiens (human)
DOID:0110639
  • congenital muscular dystrophy due to integrin alpha-7 deficiency
  • Aliases:
    • congenital muscular dystrophy with ITGA7 deficiency
    • congenital muscular dystrophy with integrin alpha-7 deficiency
    • congenital myopathy due to integrin alpha-7 deficiency
Mus musculus (house mouse)
DOID:0060733
  • junctional epidermolysis bullosa with pyloric atresia
  • Aliases:
    • Carmi syndrome
    • JEB-PA
    • epidermolysis bullosa junctionalis with pyloric atresia
    • junctional epidermolysis bullosa-pyloric atresia syndrome
Mus musculus (house mouse)
DOID:0060737
  • junctional epidermolysis bullosa Herlitz type
  • Aliases:
    • Herlitz type epidermolysis bullosa junctionalis
    • Herlitz-Pearson-type epidermolysis bullosa
    • JEB-H
    • JEB-Herlitz type
    • epidermolysis bullosa letalis
    • junctional epidermolysis bullosa generalisata gravis
    • junctional epidermolysis bullosa, Herlitz-Pearson type
Mus musculus (house mouse)
DOID:0060691
  • platelet-type bleeding disorder 16
  • Aliases:
    • autosomal dominant Glanzmann thrombasthenia
    • autosomal dominant thrombasthenia of Glanzmann and Naegeli
Mus musculus (house mouse)
DOID:0060573
  • von Willebrand's disease 1
  • Aliases:
    • VWD type 1
    • VWD1
    • von Willebrand disease type 1
    • von Willebrand disease type I
Mus musculus (house mouse)
DOID:2219
  • Glanzmann's thrombasthenia
  • Aliases:
    • BDPLT2
    • Glanzmann thrombasthenia
    • Glycoprotein IIb/IIIa defect
    • Thrombocytasthenia
    • deficiency of GP IIb-IIIa complex
    • deficiency of glycoprotein complex IIb-IIIa
    • deficiency of platelet fibrinogen receptor
    • platelet glycoprotein IIb-IIIa deficiency
    • platelet-type bleeding disorder 2
    • thrombasthenia of Glanzmann and Naegeli
Mus musculus (house mouse)
DOID:0111202
  • autosomal dominant distal hereditary motor neuronopathy 14
  • Aliases:
    • DHMN7B
    • HMN VIIB
    • HMN7B
    • Harper-Young myopathy
    • distal hereditary motor neuronopathy type 7B
    • distal hereditary motor neuropathy type VIIB
    • distal spinal muscular atrophy with vocal cord paralysis type 7B
Homo sapiens (human)
DOID:0060486
  • Perry syndrome
  • Aliases:
    • parkinsonism with alveolar hypoventilation and mental depression
Homo sapiens (human)
DOID:0060193
  • amyotrophic lateral sclerosis type 1
  • Aliases:
    • ALS1
    • amyotrophic lateral sclerosis 1
Homo sapiens (human)
DOID:231
  • motor neuron disease
Homo sapiens (human)
DOID:0050632
  • oculocutaneous albinism
Homo sapiens (human)
DOID:0070279
  • primary autosomal recessive microcephaly 14
  • Aliases:
    • MCPH14
Homo sapiens (human)
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
Homo sapiens (human)
DOID:790
  • ocular hypotension
  • Aliases:
    • Hypotony of eye
Homo sapiens (human)
DOID:0111128
  • focal segmental glomerulosclerosis 1
  • Aliases:
    • FSGS1
Homo sapiens (human)
DOID:12986
  • leukostasis
Homo sapiens (human)
DOID:3500
  • gallbladder adenocarcinoma
  • Aliases:
    • adenocarcinoma of the gallbladder
Homo sapiens (human)
DOID:9775
  • diastolic heart failure
Homo sapiens (human)
DOID:8970
  • subacute sclerosing panencephalitis
  • Aliases:
    • Immunosuppressive measles encephalitis
    • Van Bogaert's sclerosing leukoencephalitis
    • subacute sclerosing leukoencephalopathy
Homo sapiens (human)
DOID:0060071
  • pre-malignant neoplasm
Homo sapiens (human)
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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024