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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 **12101 - 12125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3 Aliases: LGMD1G autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy limb-girdle type 1G	msi	43087	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111745	cerebellar ataxia type 43 Aliases: SCA43	MME	4311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	MME	4311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080933	immunoglobulin light chain amyloidosis Aliases: AL amyloidosis Amyloidosis primary systemic Light chain amyloidosis Primary AL amyloidosis Primary systemic AL amyloidosis Primary systemic amyloidosis Systemic AL amyloidsis	MMP1 MMP2 MMP3	4312 4313 4314	Homo sapiens (human)	Alliance of Genome Resources
DOID:8553	pyoderma gangrenosum	MMP2 MMP9	4313 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:6195	conjunctivitis	C3 CFB MMP2 PLG PTAFR	4313 5340 5724 629 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:255	hemangioma	MMP2 SLC2A1	4313 6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:4250	conjunctivochalasis	MMP3 MMP9	4314 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:1222	cartilage disease Aliases: Cartilage disorder Chondropathy	BMP4 MMP3	4314 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050694	Brown-Vialetto-Van Laere syndrome	slc52a3-1 slc52a3-2b	431729 678609	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	BMP4 MMP9 TIMP1	4318 652 7076	Homo sapiens (human)	Alliance of Genome Resources
DOID:5213	chronic inflammatory demyelinating polyradiculoneuropathy	MMP9	4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:8881	rosacea Aliases: Acne roscea Acne, erythematosa	MMP9	4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2 Aliases: AMC neurogenic type AMC2 AMCN arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita neurogenic type	ergic1.S	431823	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	Ald1	43183	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:438	autoimmune disease of the nervous system	Ald1	43183	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	alg8.S	431849	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation Aliases: CAVIPMR	emc1.L	431852	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	Hex-t2	43191	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3362	coronary aneurysm Aliases: Aneurysm of coronary vessels Aneurysmal lesion of coronary artery Arteriovenous aneurysm of coronary vessels	ADIPOQ MMP12	4321 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	gcnt2.2.L gcnt2.2.S	432177 432275	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:83	cataract	gcnt2.2.L gcnt2.2.S	432177 432275	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080030	spondyloepimetaphyseal dysplasia, Missouri type	MMP13	4322	Homo sapiens (human)	Alliance of Genome Resources
DOID:3310	atopic dermatitis Aliases: Atopic neurodermatitis Besnier's prurigo allergic dermatitis atopic eczema	Tace Tl	43222 43558	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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