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 July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1126 - 1150 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0111865
  • MEND syndrome
  • Aliases:
    • male EBP disorder with neurological defects
Homo sapiens (human)
DOID:14224
  • tracheal calcification
  • Aliases:
    • Calcification of trachea
Homo sapiens (human)
DOID:5709
  • mixed-type liposarcoma
Homo sapiens (human)
DOID:5363
  • myxoid liposarcoma
  • Aliases:
    • Myxoid/round cell liposarcoma
Homo sapiens (human)
DOID:0060613
  • X-linked cleft palate with or without ankyloglossia
  • Aliases:
    • X-linked cleft palate and ankyloglossia
Homo sapiens (human)
DOID:3227
  • tracheal stenosis
  • Aliases:
    • Stenosis of trachea
Homo sapiens (human)
DOID:0080737
  • Ehlers-Danlos syndrome musculocontractural type 2
Homo sapiens (human)
DOID:0111156
  • spermatogenic failure 9
  • Aliases:
    • globozoospermia
    • male infertility due to round-headed spermatozoa
Homo sapiens (human)
DOID:0112376
  • muscular dystrophy-dystroglycanopathy type B15
  • Aliases:
    • MDDGB15
    • congenital muscular dystrophy DPM3-related
Homo sapiens (human)
DOID:0080571
  • congenital disorder of glycosylation Iu
  • Aliases:
    • congenital disorder of glycosylation 1u
Homo sapiens (human)
DOID:9957
  • periostitis
Homo sapiens (human)
DOID:8946
  • severe nonproliferative diabetic retinopathy
  • Aliases:
    • High risk non proliferative diabetic retinopathy
    • Severe NPDR
Homo sapiens (human)
DOID:1791
  • peritoneal carcinoma
  • Aliases:
    • primary peritoneal carcinoma
Homo sapiens (human)
DOID:13677
  • SAPHO syndrome
  • Aliases:
    • Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
Homo sapiens (human)
DOID:4997
  • Camurati-Engelmann disease
  • Aliases:
    • Diaphyseal dysplasia
    • Engelman's disease
    • progressive diaphyseal dysplasia
Homo sapiens (human)
DOID:0111512
  • metachondromatosis
  • Aliases:
    • METCDS
Homo sapiens (human)
DOID:0080562
  • congenital disorder of glycosylation Ij
  • Aliases:
    • Congenital disorder of glycosylation 1j
Homo sapiens (human)
DOID:0110676
  • congenital myasthenic syndrome 13
  • Aliases:
    • CMS13
    • CMSTA2
    • congenital myasthenic syndrome 13 with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 2
Homo sapiens (human)
DOID:0080565
  • congenital disorder of glycosylation Im
  • Aliases:
    • DOLK-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1m
    • dolichol kinase deficiency
Homo sapiens (human)
DOID:0080568
  • congenital disorder of glycosylation Iq
  • Aliases:
    • congenital disorder of glycosylation 1q
Homo sapiens (human)
DOID:0110912
  • leukocyte adhesion deficiency 3
  • Aliases:
    • IADD
    • LAD1 variant
    • LAD1V
    • LAD3
    • integrin activation deficiency disease
    • leukocyte adhesion deficiency 1 variant
    • leukocyte adhesion deficiency type III
Homo sapiens (human)
DOID:5847
  • posterior myocardial infarction
Homo sapiens (human)
DOID:8527
  • monocytic leukemia
  • Aliases:
    • Schilling's leukaemia
    • Schilling's leukemia
    • monocytic leukaemia
Homo sapiens (human)
DOID:0111049
  • platelet-type bleeding disorder 17
  • Aliases:
    • BDPLT17
    • hereditary thrombasthenia-thrombocytopenia
Homo sapiens (human)
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
Homo sapiens (human)

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Last updated: August 19, 2024