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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 8176 - 8200 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111602
  • distal arthrogryposis type 2B3
  • Aliases:
    • DA2B3
    • distal arthrogryposis type 2B3 (Sheldon-Hall)
Homo sapiens (human)
DOID:0111599
  • distal arthrogryposis type 2B
  • Aliases:
    • DA2B
    • Freeman-Sheldon syndrome variant
    • Sheldon-Hall syndrome
Mus musculus (house mouse)
DOID:0111598
  • distal arthrogryposis type 1B
  • Aliases:
    • DA1B
Homo sapiens (human)
DOID:0111596
  • distal arthrogryposis type 1
  • Aliases:
    • DA1
    • digitotalar dysmorphism
Mus musculus (house mouse)
DOID:0111596
  • distal arthrogryposis type 1
  • Aliases:
    • DA1
    • digitotalar dysmorphism
Homo sapiens (human)
DOID:0111595
  • congenital contractural arachnodactyly
  • Aliases:
    • Beals syndrome
    • Beals-Hecht syndrome
    • CCA
    • arachnodactyly, contractural Beals type
    • contractures, multiple with arachnodactyly
    • distal arthrogryposis type 9
    • ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
Homo sapiens (human)
DOID:0111595
  • congenital contractural arachnodactyly
  • Aliases:
    • Beals syndrome
    • Beals-Hecht syndrome
    • CCA
    • arachnodactyly, contractural Beals type
    • contractures, multiple with arachnodactyly
    • distal arthrogryposis type 9
    • ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
Mus musculus (house mouse)
DOID:0111595
  • congenital contractural arachnodactyly
  • Aliases:
    • Beals syndrome
    • Beals-Hecht syndrome
    • CCA
    • arachnodactyly, contractural Beals type
    • contractures, multiple with arachnodactyly
    • distal arthrogryposis type 9
    • ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
Caenorhabditis elegans
DOID:0111594
  • distal arthrogryposis type 5D
  • Aliases:
    • DA5D
    • distal arthrogryposis type 5 without ophthalmoparesis
    • distal arthrogryposis type 5 without ophthalmoplegia
Rattus norvegicus (Norway rat)
DOID:0111594
  • distal arthrogryposis type 5D
  • Aliases:
    • DA5D
    • distal arthrogryposis type 5 without ophthalmoparesis
    • distal arthrogryposis type 5 without ophthalmoplegia
Homo sapiens (human)
DOID:0111594
  • distal arthrogryposis type 5D
  • Aliases:
    • DA5D
    • distal arthrogryposis type 5 without ophthalmoparesis
    • distal arthrogryposis type 5 without ophthalmoplegia
Mus musculus (house mouse)
DOID:0111594
  • distal arthrogryposis type 5D
  • Aliases:
    • DA5D
    • distal arthrogryposis type 5 without ophthalmoparesis
    • distal arthrogryposis type 5 without ophthalmoplegia
Drosophila melanogaster (fruit fly)
DOID:0111592
  • plasminogen deficiency type I
  • Aliases:
    • hypoplasminogenemia
Mus musculus (house mouse)
DOID:0111592
  • plasminogen deficiency type I
  • Aliases:
    • hypoplasminogenemia
Homo sapiens (human)
DOID:0111590
  • Cohen syndrome
  • Aliases:
    • COH1
    • Hypotonia, obesity, and prominent incisors
    • Pepper syndrome
Mus musculus (house mouse)
DOID:0111590
  • Cohen syndrome
  • Aliases:
    • COH1
    • Hypotonia, obesity, and prominent incisors
    • Pepper syndrome
Homo sapiens (human)
DOID:0111589
  • COACH syndrome
  • Aliases:
    • Gentile syndrome
    • JS-H
    • Joubert syndrome with congenital hepatic fibrosis
    • Joubert syndrome with hepatic defect
    • cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
Homo sapiens (human)
DOID:0111589
  • COACH syndrome
  • Aliases:
    • Gentile syndrome
    • JS-H
    • Joubert syndrome with congenital hepatic fibrosis
    • Joubert syndrome with hepatic defect
    • cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
Mus musculus (house mouse)
DOID:0111588
  • Greenberg dysplasia
  • Aliases:
    • GRBGD
    • Greenberg skeletal dysplasia
    • HEM dysplasia
    • Skeletal dysplasia, Greenberg type
    • autosomal recessive lethal chondrodystrophy with congenital hydrops
    • hydrops, ectopic calcification, moth-eaten skeletal dysplasia
    • hydrops-ectopic calcification-motheaten syndrome
Mus musculus (house mouse)
DOID:0111588
  • Greenberg dysplasia
  • Aliases:
    • GRBGD
    • Greenberg skeletal dysplasia
    • HEM dysplasia
    • Skeletal dysplasia, Greenberg type
    • autosomal recessive lethal chondrodystrophy with congenital hydrops
    • hydrops, ectopic calcification, moth-eaten skeletal dysplasia
    • hydrops-ectopic calcification-motheaten syndrome
Homo sapiens (human)
DOID:0111586
  • Martsolf syndrome
  • Aliases:
    • cataract-intellectual disability-hypogonadism syndrome
Mus musculus (house mouse)
DOID:0111584
  • dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
  • Aliases:
    • Malouf syndrome
    • Najjar syndrome
    • cardiogenital syndrome
    • cardiomyopathy eith primary testicular failure
    • congestive cardiomyopathy with hypergonadotropic hypogonadism
    • dilated cardiomyopathy with hypergonadotropic hypogonadism
    • dilated cardiomyopathy with premature ovarian failure
    • genital anomaly with cardiomyopathy
Mus musculus (house mouse)
DOID:0111584
  • dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
  • Aliases:
    • Malouf syndrome
    • Najjar syndrome
    • cardiogenital syndrome
    • cardiomyopathy eith primary testicular failure
    • congestive cardiomyopathy with hypergonadotropic hypogonadism
    • dilated cardiomyopathy with hypergonadotropic hypogonadism
    • dilated cardiomyopathy with premature ovarian failure
    • genital anomaly with cardiomyopathy
Homo sapiens (human)
DOID:0111583
  • carboxypeptidase N deficiency
  • Aliases:
    • anaphylotoxin inactivator deficiency
    • deficiency of carboxypeptidase B
Caenorhabditis elegans
DOID:0111583
  • carboxypeptidase N deficiency
  • Aliases:
    • anaphylotoxin inactivator deficiency
    • deficiency of carboxypeptidase B
Homo sapiens (human)
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Last updated: December 9, 2024