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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 **8651 - 8675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	Notch3	18131	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	Notch3	56761	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	glp-1	176286	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	N	31293	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	Pth1r	19228	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	Pth1r	56813	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	pdfr-1	175942	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111340	dominant optic atrophy plus syndrome Aliases: DOA+ optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	Ano5	233246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ANO5	203859	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111337	Jackson-Weiss syndrome Aliases: JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome	Fgfr1 Fgfr2	14182 14183	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111337	Jackson-Weiss syndrome Aliases: JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome	fgfr1.L fgfr1.S	397782 399444	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111337	Jackson-Weiss syndrome Aliases: JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome	FGFR1 FGFR2	2260 2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111337	Jackson-Weiss syndrome Aliases: JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome	btl htl	39564 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111337	Jackson-Weiss syndrome Aliases: JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome	fgfr1	548648	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111337	Jackson-Weiss syndrome Aliases: JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome	Fgfr1 Fgfr2	25022 79114	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111337	Jackson-Weiss syndrome Aliases: JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome	fgfr1a fgfr2	30705 352940	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	Lep	16846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	LEP	3952	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	Lep	25608	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111333	early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Aliases: EMARDD Myopathy, areflexia, respiratory distress, and dysphagia, early-onset congenital myopathy 10A	Megf10	70417	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111333	early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Aliases: EMARDD Myopathy, areflexia, respiratory distress, and dysphagia, early-onset congenital myopathy 10A	MEGF10	84466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111333	early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Aliases: EMARDD Myopathy, areflexia, respiratory distress, and dysphagia, early-onset congenital myopathy 10A	drpr	38218	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111333	early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Aliases: EMARDD Myopathy, areflexia, respiratory distress, and dysphagia, early-onset congenital myopathy 10A	ced-1	173064	Caenorhabditis elegans	Alliance of Genome Resources

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