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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 26 - 50 of 15957 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism Source
DOID:14450
  • 46 XX gonadal dysgenesis
  • Aliases:
    • ovarian dysgenesis
Mus musculus (house mouse)
DOID:0080943
  • 46,XX sex reversal 5
Mus musculus (house mouse)
DOID:0080943
  • 46,XX sex reversal 5
Homo sapiens (human)
DOID:0111777
  • 46,XY sex reversal 2
  • Aliases:
    • 46,XY sex reversal, DAX1-related
    • 46XY sex reversal 2, dosage-sensitive
    • SRXY2
    • dosage-sensitive sex reversal
Homo sapiens (human)
DOID:0111776
  • 46,XY sex reversal 5
  • Aliases:
    • 46,XY gonadal dysgenesis, complete, CBX2-related
    • 46,XY sex reversal, CBX2-related
    • SRXY5
    • disorder of sex development, 46,XY, CBX2-related
    • sex reversal, XY, CBX2-related
Mus musculus (house mouse)
DOID:0111776
  • 46,XY sex reversal 5
  • Aliases:
    • 46,XY gonadal dysgenesis, complete, CBX2-related
    • 46,XY sex reversal, CBX2-related
    • SRXY5
    • disorder of sex development, 46,XY, CBX2-related
    • sex reversal, XY, CBX2-related
Homo sapiens (human)
DOID:0111769
  • 46,XY sex reversal 6
  • Aliases:
    • 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related
    • 46,XY sex reversal, partial or complete, MAP3K1-related
    • SRXY6
Homo sapiens (human)
DOID:0111774
  • 46,XY sex reversal 7
  • Aliases:
    • 46,XY gonadal dysgenesis, partial or complete, DHH-related
    • 46,XY sex reversal, partial or complete, DHH-related
    • GDXYM
    • SRXY7
    • gonadal dysgenesis, XY, male limited
Caenorhabditis elegans
DOID:0111773
  • 46,XY sex reversal 8
  • Aliases:
    • SRXY8
    • TDD
    • male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
Homo sapiens (human)
DOID:0111773
  • 46,XY sex reversal 8
  • Aliases:
    • SRXY8
    • TDD
    • male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
Saccharomyces cerevisiae S288C
DOID:14448
  • 46,XY sex reversal
  • Aliases:
    • 46 XY gonadal dysgenesis
    • Pure gonadal dysgenesis 46,XY
    • Swyer syndrome
Caenorhabditis elegans
DOID:14448
  • 46,XY sex reversal
  • Aliases:
    • 46 XY gonadal dysgenesis
    • Pure gonadal dysgenesis 46,XY
    • Swyer syndrome
Homo sapiens (human)
DOID:0050600
  • ABCD syndrome
  • Aliases:
    • ABCDS
    • albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
Mus musculus (house mouse)
DOID:0050600
  • ABCD syndrome
  • Aliases:
    • ABCDS
    • albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
Rattus norvegicus (Norway rat)
DOID:0050600
  • ABCD syndrome
  • Aliases:
    • ABCDS
    • albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
Homo sapiens (human)
DOID:0111623
  • ACTH-independent macronodular adrenal hyperplasia 1
  • Aliases:
    • AIMAH1
Homo sapiens (human)
DOID:0111623
  • ACTH-independent macronodular adrenal hyperplasia 1
  • Aliases:
    • AIMAH1
Mus musculus (house mouse)
DOID:7004
  • ACTH-secreting pituitary adenoma
  • Aliases:
    • ACTH-Producing Pituitary Adenoma
    • Corticotroph adenoma
    • Corticotropinoma
Homo sapiens (human)
DOID:7004
  • ACTH-secreting pituitary adenoma
  • Aliases:
    • ACTH-Producing Pituitary Adenoma
    • Corticotroph adenoma
    • Corticotropinoma
Saccharomyces cerevisiae S288C
DOID:7004
  • ACTH-secreting pituitary adenoma
  • Aliases:
    • ACTH-Producing Pituitary Adenoma
    • Corticotroph adenoma
    • Corticotropinoma
Caenorhabditis elegans
DOID:7004
  • ACTH-secreting pituitary adenoma
  • Aliases:
    • ACTH-Producing Pituitary Adenoma
    • Corticotroph adenoma
    • Corticotropinoma
Mus musculus (house mouse)
DOID:0080952
  • AMED syndrome
  • Aliases:
    • AMEDS
Homo sapiens (human)
DOID:0070028
  • APP-related cerebral amyloid angiopathy
  • Aliases:
    • Amyloidosis, Cerebroarterial, App-Related
    • Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
    • Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Flemish Variant
    • Cerebral Amyloid Angiopathy, App-Related, Iowa Variant
    • Cerebral Amyloid Angiopathy, App-Related, Italian Variant
    • HCHWAD
Mus musculus (house mouse)
DOID:0070028
  • APP-related cerebral amyloid angiopathy
  • Aliases:
    • Amyloidosis, Cerebroarterial, App-Related
    • Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
    • Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Flemish Variant
    • Cerebral Amyloid Angiopathy, App-Related, Iowa Variant
    • Cerebral Amyloid Angiopathy, App-Related, Italian Variant
    • HCHWAD
Homo sapiens (human)
DOID:0070028
  • APP-related cerebral amyloid angiopathy
  • Aliases:
    • Amyloidosis, Cerebroarterial, App-Related
    • Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
    • Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Flemish Variant
    • Cerebral Amyloid Angiopathy, App-Related, Iowa Variant
    • Cerebral Amyloid Angiopathy, App-Related, Italian Variant
    • HCHWAD
Drosophila melanogaster (fruit fly)
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Last updated: December 9, 2024