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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 **10126 - 10150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	Itgbn mew	32275 35368	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080000	muscular disease	CPT2 Hmgcr mew	32275 38355 42803	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060737	junctional epidermolysis bullosa Herlitz type Aliases: Herlitz type epidermolysis bullosa junctionalis Herlitz-Pearson-type epidermolysis bullosa JEB-H JEB-Herlitz type epidermolysis bullosa letalis junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa, Herlitz-Pearson type	mew	32275	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	mew	32275	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110513	autosomal recessive nonsyndromic deafness 61 Aliases: DFNB61 autosomal recessive deafness 61	slc26a5	322846	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111019	cone-rod dystrophy 12 Aliases: CORD12	prom1a	322857	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070517	retinal macular dystrophy 2 Aliases: MCDR2	prom1a	322857	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110376	retinitis pigmentosa 41 Aliases: RP41	prom1a	322857	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	lmbrd1	323720	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110972	brachydactyly type E1 Aliases: BDE1	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110967	brachydactyly type A4 Aliases: BDA4 Temtamy type brachydactyly brachymesophalangy II and V	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110971	brachydactyly type D Aliases: BDD	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111819	syndactyly type 5 Aliases: SDTY5 syndactyly with associated metacarpal and metatarsal fusion	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060242	synpolydactyly Aliases: syndactyly type 2	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050689	brachydactyly-syndactyly syndrome	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	stt3b	323918	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111153	congenital mirror movement disorder Aliases: familial congenital controlateral synkinesia familial congenital mirror movements hereditary congenital controlateral synkinesia hereditary congenital mirror movements isolated congenital controlateral synkinesia isolated congenital mirror movements	NetA NetB	32398 32400	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	APC IHH MUTYH PLCG1	324 3549 4595 5335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111349	hereditary desmoid disease Aliases: FIF familial infiltrative fibromatosis	APC	324	Homo sapiens (human)	Alliance of Genome Resources
DOID:3025	acinar cell carcinoma Aliases: acinic cell carcinoma	APC	324	Homo sapiens (human)	Alliance of Genome Resources
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	c1galt1c1	324052	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	c1galt1c1	324052	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110501	autosomal recessive nonsyndromic deafness 44 Aliases: DFNB44 autosomal recessive deafness 44	rut	32406	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112202	developmental and epileptic encephalopathy	eag	32428	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	chsy1	324407	Danio rerio (zebrafish)	Alliance of Genome Resources

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