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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 **751 - 775** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6	548849	Xenopus tropicalis (tropical clawed frog)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	b3galt6	548849	Xenopus tropicalis (tropical clawed frog)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	b3galt6 b4galt7	100144979 548849	Xenopus tropicalis (tropical clawed frog)
DOID:1793	pancreatic cancer Aliases: Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor	b3galt10.1 gbgt1l2 gbgt1l3 gbgt1l4 gbgt1l5 gbgt1l8 gbgt1l9 hs3st2 ins mgat4a mtap ugt1a7 ugt1ab	100005565 100005704 100384891 30262 387303 393526 406731 447881 563038 563897 566487 571246 798349	Danio rerio (zebrafish)
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	b3galnt2.L	431874	Xenopus laevis (African clawed frog)
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	b3galnt2	553716	Danio rerio (zebrafish)
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	b3galnt2	496641	Xenopus tropicalis (tropical clawed frog)
DOID:0070112	Niemann-Pick disease type B	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:0070111	Niemann-Pick disease type A	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:0050432	Asperger syndrome	aralar1	43616	Drosophila melanogaster (fruit fly)
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	aralar1	43616	Drosophila melanogaster (fruit fly)
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	aralar1	43616	Drosophila melanogaster (fruit fly)
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	aralar1	43616	Drosophila melanogaster (fruit fly)
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	aralar1	43616	Drosophila melanogaster (fruit fly)
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	aralar1	43616	Drosophila melanogaster (fruit fly)
DOID:4137	common bile duct disease	aralar1	43616	Drosophila melanogaster (fruit fly)
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	aralar1	43616	Drosophila melanogaster (fruit fly)
DOID:0060041	autism spectrum disorder	aralar1 sfl ttv	36614 38736 43616	Drosophila melanogaster (fruit fly)
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	aprt-1	172232	Caenorhabditis elegans
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	alpha-Man-Ib	43436	Drosophila melanogaster (fruit fly)
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	alpha-Man-IIa	41126	Drosophila melanogaster (fruit fly)
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	algn-9	174633	Caenorhabditis elegans
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	algn-8	174542	Caenorhabditis elegans

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