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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 **7126 - 7150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080263	autosomal recessive nonsyndromic deafness 108	Ror1	26563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070330	multiple mitochondrial dysfunctions syndrome Aliases: fatal multiple mitochondrial dysfunction syndrome	GCSH	2653	Homo sapiens (human)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT GCSH GLDC SLC6A9	2653 2731 275 6536	Homo sapiens (human)	Alliance of Genome Resources
DOID:3193	peripheral nerve sheath neoplasm Aliases: neoplasm of the nerve Sheath nerve sheath tumour	LATS2	26524	Homo sapiens (human)	Alliance of Genome Resources
DOID:13909	red-green color blindness Aliases: Deutan defect Deuteranopia Reduced red-green discrimination	OPN1MW	2652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	GCNT2	2651	Homo sapiens (human)	Alliance of Genome Resources
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	FER1L5 FER1L6 FKRP MYOF SGCG	26509 6445 654463 79147 90342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111404	Jalili syndrome Aliases: Cone rod dystrophy-amelogenesis imperfecta syndrome cone-rod dystrophy and amelogenesis imperfecta	CNNM4	26504	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	GCK	2645	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	GCK	2645	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	ABCC8 GCK INS KCNJ11	2645 3630 3767 6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	ABCC8 GCK HK2 HK3 HKDC1	2645 3099 3101 6833 80201	Homo sapiens (human)	Alliance of Genome Resources
DOID:11717	neonatal diabetes Aliases: diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus	GCK HK2 HK3 HKDC1 INS	2645 3099 3101 3630 80201	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	GCK HK2 HK3 HKDC1 HNF1A INS MAFA PDX1 TGM2	2645 3099 3101 3630 3651 389692 6927 7052 80201	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	Plod2	26432	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110345	osteogenesis imperfecta type 16 Aliases: OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI	Creb3l1	26427	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112306	Mahvash Disease Aliases: GCGR-related hyperglucagonemia nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor	GCGR	2642	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111785	frontometaphyseal dysplasia Aliases: FMD	Map3k7	26409	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11520	benign hypertensive renal disease Aliases: hypertensive renal disease, benign hypertensive renal disease, benign, without mention of renal failure	Map3k7	26409	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111787	frontometaphyseal dysplasia 2 Aliases: FMD2	Map3k7	26409	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112221	developmental and epileptic encephalopathy 87 Aliases: DEE87 early infantile epileptic encephalopathy 87	Cdk8	264064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111462	cardiofaciocutaneous syndrome 3 Aliases: CFC3	Map2k1	26395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4906	small intestine adenocarcinoma Aliases: small intestinal adenocarcinoma	Map2k1	26395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4253	melorheostosis	Map2k1	26395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111254	glutaric acidemia I Aliases: GA1 glutaric academia type 1 glutaric aciduria 1 glutaric aciduria type I glutaryl-coA dehydrogenase deficiency glutaryl-coenzyme A dehydrogenase deficiency	GCDH	2639	Homo sapiens (human)	Alliance of Genome Resources

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