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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 **4076 - 4100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111543	juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome Aliases: JP-HHT	SMAD4	4089	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070010	Seckel syndrome 4 Aliases: SCKL4	Sas-4	40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070290	primary autosomal recessive microcephaly 6 Aliases: MCPH6	Sas-4	40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050569	Seckel syndrome Aliases: Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism	Sas-4	40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly Aliases: MCPH	Sas-4	40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:13207	proliferative diabetic retinopathy Aliases: PDR	calu	407965	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:9675	pulmonary emphysema	fut8	407913	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112209	developmental and epileptic encephalopathy 73 Aliases: DEE73 early infantile epileptic encephalopathy 73	gzl	40791	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	stt3a	407861	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070129	autosomal recessive cutis laxa type IID Aliases: ARCL2D	st6gal2	407846	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	st6gal2	407846	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0090082	hypogonadotropic hypogonadism 20 with or without anosmia	fgf17	407737	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:326	ischemia	asic1a asic1b asic1c asic2 asic4a asic4b	407667 407668 407669 407670 407672 791696	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	alg11	407614	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	EPCAM	4072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070270	hereditary nonpolyposis colorectal cancer type 8 Aliases: HNPCC8	EPCAM MSH2	4072 4436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	gyg1a gyg1b	406831 415152	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060705	X-linked lymphoproliferative syndrome 1 Aliases: XLP1	SH2D1A	4068	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070038	autosomal dominant intellectual developmental disorder 8 Aliases: MRD8 autosomal dominant mental retardation 8 autosomal dominant non-syndromic intellectual disability 8	Nmdar1	40665	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070387	developmental and epileptic encephalopathy 101 Aliases: DEE101 early infantile epileptic encephalopathy 101	Nmdar1	40665	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090060	Wolcott-Rallison syndrome	PEK	40653	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	PEK	40653	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:7693	abdominal aortic aneurysm Aliases: AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1	ace pon1 sort1a	406511 447803 565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110727	neuronal ceroid lipofuscinosis 13 Aliases: CLN13 neuronal ceroid lipofuscinosis 13 Kufs type	CtsF	40628	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1386	abetalipoproteinemia Aliases: familial hypobetalipoproteinemia microsomal triglyceride transfer protein deficiency disease	mttp	406207	Danio rerio (zebrafish)	Alliance of Genome Resources

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