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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 **11851 - 11875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0081350	congenital myopathy 18	cacna1sa cacna1sb	405791 570683	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	cacna1sa cacna1sb	405791 570683	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	Gmppb	40599	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T Aliases: LGMD2T MDDGC14 muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related	Gmppb	40599	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	Gmppb	40599	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	dgat2 foxo1a mttp pon1	406207 447803 565316 768121	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	mttp pon1	406207 447803	Danio rerio (zebrafish)	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
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:7693	abdominal aortic aneurysm Aliases: AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1	ace pon1 sort1a	406511 447803 565980	Danio rerio (zebrafish)	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:0090060	Wolcott-Rallison syndrome	PEK	40653	Drosophila melanogaster (fruit fly)	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:0060705	X-linked lymphoproliferative syndrome 1 Aliases: XLP1	SH2D1A	4068	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:0070270	hereditary nonpolyposis colorectal cancer type 8 Aliases: HNPCC8	EPCAM MSH2	4072 4436	Homo sapiens (human)	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:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	alg11	407614	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:0090082	hypogonadotropic hypogonadism 20 with or without anosmia	fgf17	407737	Danio rerio (zebrafish)	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:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	stt3a	407861	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

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