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 4951 - 4975 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:14021
  • Tietze's syndrome
  • Aliases:
    • Costalchondritis
    • Costochondral junction syndrome
    • Costochondritis
    • Slipping rib syndrome
    • Tietze's disease
Mus musculus (house mouse)
DOID:0090100
  • ocular albinism with sensorineural deafness
  • Aliases:
    • WS2-OA
    • autosomal recessive Waardenburg syndrome type 2 with ocular albinism
    • digenic Waardenburg syndrome/albinism
    • digenic Waardenburg syndrome/ocular albinism
Mus musculus (house mouse)
DOID:0110948
  • Waardenburg syndrome type 1
  • Aliases:
    • WS1
    • Waardenburg syndrome type I
Mus musculus (house mouse)
DOID:0090002
  • Tietz syndrome
  • Aliases:
    • Tietz albinism-deafness syndrome
    • albinism-deafness of Tietz
    • hypopigmentation/deafness of Tietz
Mus musculus (house mouse)
DOID:5031
  • adult pineal parenchymal tumor
  • Aliases:
    • adult Pineal Parenchymal neoplasm
Mus musculus (house mouse)
DOID:0050560
  • Walker-Warburg syndrome
  • Aliases:
    • HARD syndrome
    • cerebroocular dysplasia-muscular dystrophy syndrome
Caenorhabditis elegans
DOID:0050588
  • muscular dystrophy-dystroglycanopathy type B1
  • Aliases:
    • CMD due to dystroglycanopathy
    • Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
Caenorhabditis elegans
DOID:0110444
  • dilated cardiomyopathy 1X
  • Aliases:
    • CMD1X
    • dilated cardiomyopathy with mild or no proximal muscle weakness
Caenorhabditis elegans
DOID:0110443
  • dilated cardiomyopathy 1B
Caenorhabditis elegans
DOID:0050559
  • Fukuyama congenital muscular dystrophy
Caenorhabditis elegans
DOID:0110296
  • autosomal recessive limb-girdle muscular dystrophy type 2M
  • Aliases:
    • LGMD2M
    • MDDGC4
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
Caenorhabditis elegans
DOID:0110284
  • autosomal recessive limb-girdle muscular dystrophy type 2L
  • Aliases:
    • LGMD2L
    • muscular dystrophy, limb-girdle, type 2L
Caenorhabditis elegans
DOID:0112379
  • muscular dystrophy-dystroglycanopathy type B4
  • Aliases:
    • MDDGB4
    • congenital muscular dystrophy FKTN-related
Caenorhabditis elegans
DOID:0070274
  • hereditary nonpolyposis colorectal cancer type 2
  • Aliases:
    • COCA2
    • FCC2
    • HNPCC2
    • familial nonpolyposis colon cancer type 2
Mus musculus (house mouse)
DOID:0050465
  • Muir-Torre syndrome
Mus musculus (house mouse)
DOID:10155
  • intestinal cancer
  • Aliases:
    • malignant intestinal tumors
    • malignant neoplasm of intestine
Caenorhabditis elegans
DOID:0081276
  • cerebellar atrophy, visual impairment, and psychomotor retardation
  • Aliases:
    • CAVIPMR
Caenorhabditis elegans
DOID:8864
  • acute monocytic leukemia
  • Aliases:
    • acute Monoblastic Leukemia and acute Monocytic Leukemia
    • acute monocytic leukaemia
    • acute monocytic leukaemia without mention of remission
    • acute monocytic leukemia without mention of remission
    • acute monocytic leukemia, FAB M5
    • acute monocytic leukemia, morphology
Mus musculus (house mouse)
DOID:0110957
  • Gaucher's disease type I
  • Aliases:
    • Acid Beta-Glucosidase Deficiency
    • GD I
    • GD1
    • Gaucher Disease, Noncerebral Juvenile
    • Gba Deficiency
    • Glucocerebrosidase Deficiency
Caenorhabditis elegans
DOID:1926
  • Gaucher's disease
  • Aliases:
    • Gaucher disease
    • acid beta-glucosidase deficiency
    • glocucerebrosidase deficiency
    • glucosylceramide beta-glucosidase deficiency
    • kerasin thesaurismosis
Caenorhabditis elegans
DOID:0110958
  • Gaucher's disease type II
  • Aliases:
    • GD II
    • GD2
    • Gaucher Disease, Acute Neuronopathic Type
    • Infantile Cerebral Gaucher Disease
Caenorhabditis elegans
DOID:12449
  • aplastic anemia
Homo sapiens (human)
DOID:2729
  • dyskeratosis congenita
  • Aliases:
    • DKCD
Homo sapiens (human)
DOID:0070025
  • X-linked dyskeratosis congenita
  • Aliases:
    • DKCX
    • Zinsser-Cole-Engman syndrome
Homo sapiens (human)
DOID:6432
  • pulmonary hypertension
Caenorhabditis elegans

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Last updated: December 9, 2024