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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 6151 - 6175 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:14176
  • selective IgG deficiency disease
  • Aliases:
    • Immunoglobin G subclass deficiency
    • Selective IgG Immunodeficiency
    • Selective Immunoglobulin G Subclass deficiency
    • Selective deficiency of IgG
    • Selective immunoglobulin G deficiency
Homo sapiens (human)
DOID:3890
  • acute intermittent porphyria
  • Aliases:
    • AIP - acute intermittent porphyria
    • Pyrroloporphyria
    • porphyria intermittent acute
Homo sapiens (human)
DOID:3132
  • porphyria cutanea tarda
Homo sapiens (human)
DOID:5230
  • hepatoerythropoietic porphyria
Homo sapiens (human)
DOID:0060732
  • chromosome 9p deletion syndrome
  • Aliases:
    • 9p syndrome
    • Alfi syndrome
    • monosomy 9p syndrome
Homo sapiens (human)
DOID:0060768
  • Smith-Magenis syndrome
  • Aliases:
    • 17p11.2 microdeletion syndrome
    • chromosome 17p11.2 deletion syndrome
Homo sapiens (human)
DOID:0060395
  • chromosome 15q24 deletion syndrome
  • Aliases:
    • 15q24 microdeletion syndrome
Homo sapiens (human)
DOID:0060407
  • chromosome 18q deletion syndrome
  • Aliases:
    • 18q- syndrome
    • deletion 18q
    • monosomy 18q
Homo sapiens (human)
DOID:0060390
  • distal 10q deletion syndrome
  • Aliases:
    • chromosome 10q26 deletion syndrome
    • distal monosomy 10q
    • monosomy 10qter
    • telomeric deletion 10q
    • terminal chromosome 10q26 deletion syndrome
Homo sapiens (human)
DOID:0060415
  • chromosome 2p16.1-p15 deletion syndrome
  • Aliases:
    • 2p15p16.1 microdeletion syndrome
Homo sapiens (human)
DOID:0060417
  • 3p deletion syndrome
  • Aliases:
    • chromosome 3pter-P25 deletion syndrome
    • distal monosomy 3p
Homo sapiens (human)
DOID:0060412
  • chromosome 1q41-q42 deletion syndrome
  • Aliases:
    • 1q41-q42 microdeletion syndrome
    • 1q41q42 microdeletion syndrome
Homo sapiens (human)
DOID:1932
  • Angelman syndrome
  • Aliases:
    • happy puppet syndrome
    • puppetlike syndrome
Homo sapiens (human)
DOID:0060405
  • chromosome 17q23.1-q23.2 deletion syndrome
  • Aliases:
    • 17q23.1-q23.2 microdeletion syndrome
    • 17q23.1q23.2 microdeletion syndrome
Homo sapiens (human)
DOID:0060411
  • chromosome 1q21.1 deletion syndrome
  • Aliases:
    • 1q21.1 microdeletion syndrome
Homo sapiens (human)
DOID:0060422
  • chromosome 6pter-p24 deletion syndrome
  • Aliases:
    • 6p subtelomeric deletion syndrome
    • 6p25 microdeletion syndrome
    • distal monosomy 6p
Homo sapiens (human)
DOID:0060404
  • chromosome 17q12 deletion syndrome
  • Aliases:
    • 17q12 microdeletion syndrome
Homo sapiens (human)
DOID:0060428
  • SATB2-associated syndrome
  • Aliases:
    • 2q32-q33 microdeletion syndrome
    • 2q32q33 microdeletion syndrome
    • Glass syndrome
    • chromosome 2q32-q33 deletion syndrome
    • monosomy 2q32
    • monosomy 2q32-q33
    • monosomy 2q32q33
Homo sapiens (human)
DOID:0060400
  • chromosome 16p12.2-p11.2 deletion syndrome
  • Aliases:
    • 16p11.2-p12.2 microdeletion syndrome
    • 16p11.2p12.2 microdeletion syndrome
Homo sapiens (human)
DOID:0060391
  • chromosome 13q14 deletion syndrome
  • Aliases:
    • deletion 13q14
Homo sapiens (human)
DOID:0060397
  • chromosome 15q26-qter deletion syndrome
  • Aliases:
    • 15q26 deletion syndrome
    • Drayer syndrome
    • distal 15q deletion syndrome
    • distal monosomy 15q
    • telomeric 15q deletion syndrome
Homo sapiens (human)
DOID:0060409
  • NFIA-related disorder
  • Aliases:
    • 1p31p32 microdeletion syndrome
    • Chromosome 1, Monosomy 1p32
    • brain malformations with or without urinary tract defects
    • chromosome 1p32-p31 deletion syndrome
Homo sapiens (human)
DOID:0060398
  • chromosome 16p11.2 deletion syndrome, 220-kb
  • Aliases:
    • distal 16p11.2 microdeletion syndrome
Homo sapiens (human)
DOID:0060394
  • chromosome 15q13.3 microdeletion syndrome
  • Aliases:
    • 15q13.3 microdeletion syndrome
Homo sapiens (human)
DOID:0060425
  • chromosome 8q21.11 deletion syndrome
  • Aliases:
    • 8q21.11 microdeletion syndrome
Homo sapiens (human)
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Last updated: August 19, 2024