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Alliance of Genome Resources

Alliance of Genome Resources is a gene dataset, which contains curated genome information essential for the understanding of the genetics and genomic basis of human biology, health and disease. All data is retrieved from six major model organism databases and the Gene Ontology including FlyBase, Mouse Genome Database (MGI), Rat Genome Database (RGD), Saccharomyces Genome Database (SGD), WormBase, Zebrafish Information Network (ZFIN), and the GO Consortium. In GlyCosmos, only glycan-related disease information has been extracted from Alliance of Genome Resources.

Source	Last Updated
Alliance of Genome Resources	January 28, 2025

Displaying entries **301 - 325** of **14279** in total

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Disease ID	Disease Name	Alliance of Genome Resources ID	Species	Gene ID ▼	Gene Symbol	Evidence	References
DOID:9884	muscular dystrophy	ZFIN:ZDB-GENE-070412-4	Danio rerio (zebrafish)	571426	fkrp	author statement supported by traceable reference used in manual assertion	PMID:18477595
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1	ZFIN:ZDB-GENE-070412-4	Danio rerio (zebrafish)	571426	fkrp	author statement supported by traceable reference used in manual assertion	PMID:31391079
DOID:10629	microphthalmia	ZFIN:ZDB-GENE-980526-373	Danio rerio (zebrafish)	566470	gdf6a	author statement supported by traceable reference used in manual assertion	PMID:23737474
DOID:0070309	absence epilepsy	ZFIN:ZDB-GENE-040724-26	Danio rerio (zebrafish)	562059	cacna1aa	author statement supported by traceable reference used in manual assertion	PMID:31875924
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	ZFIN:ZDB-GENE-031116-55	Danio rerio (zebrafish)	560091	dsc2l	author statement supported by traceable reference used in manual assertion	PMID:33784018
DOID:1485	cystic fibrosis	ZFIN:ZDB-GENE-050517-20	Danio rerio (zebrafish)	559080	cftr	author statement supported by traceable reference used in manual assertion	PMID:26153247 PMID:30728389 PMID:32478753 PMID:32574800 PMID:32849617 PMID:34530447
DOID:9351	diabetes mellitus	ZFIN:ZDB-GENE-050517-20	Danio rerio (zebrafish)	559080	cftr	author statement supported by traceable reference used in manual assertion	PMID:26153247
DOID:0050560	Walker-Warburg syndrome	ZFIN:ZDB-GENE-060929-1018	Danio rerio (zebrafish)	557187	rxylt1	curator inference used in manual assertion	PMID:27130732
DOID:10584	retinitis pigmentosa	ZFIN:ZDB-GENE-130530-959	Danio rerio (zebrafish)	557044	eys	curator inference used in manual assertion	PMID:33514863
DOID:0050572	cone-rod dystrophy	ZFIN:ZDB-GENE-130530-959	Danio rerio (zebrafish)	557044	eys	author statement supported by traceable reference used in manual assertion	PMID:28378834
DOID:1682	congenital heart disease	ZFIN:ZDB-GENE-030131-4714	Danio rerio (zebrafish)	553365	gnptab	author statement supported by traceable reference used in manual assertion	PMID:33055423
DOID:0080070	mucolipidosis II alpha/beta	ZFIN:ZDB-GENE-030131-4714	Danio rerio (zebrafish)	553365	gnptab	author statement supported by traceable reference used in manual assertion	PMID:19834066 PMID:22046029 PMID:26404503 PMID:29539424
DOID:0080488	mucolipidosis	ZFIN:ZDB-GENE-030131-4714	Danio rerio (zebrafish)	553365	gnptab	author statement supported by traceable reference used in manual assertion	PMID:36096887
DOID:0050816	urofacial syndrome	MGI:2685814	Mus musculus (house mouse)	545291	Hpse2	author statement supported by traceable reference	PMID:25510506
DOID:6000	congestive heart failure	RGD:1565646	Rattus norvegicus (Norway rat)	499593	Sox2	mutant phenotype evidence used in manual assertion	PMID:34321385
DOID:206	hereditary multiple exostoses	ZFIN:ZDB-GENE-041124-3	Danio rerio (zebrafish)	493780	ext2	author statement supported by traceable reference used in manual assertion	PMID:24628984
DOID:10907	microcephaly	ZFIN:ZDB-GENE-041114-166	Danio rerio (zebrafish)	492810	mfsd2aa	curator inference used in manual assertion	PMID:26005868
DOID:0050570	congenital disorder of glycosylation type I	ZFIN:ZDB-GENE-040801-115	Danio rerio (zebrafish)	445202	dpm1	curator inference used in manual assertion	PMID:26729507
DOID:13359	Ehlers-Danlos syndrome	ZFIN:ZDB-GENE-040727-3	Danio rerio (zebrafish)	445022	b4galt7	author statement supported by traceable reference used in manual assertion	PMID:16759393
DOID:0081163	dilated cardiomyopathy 2G	HGNC:6648	Homo sapiens (human)	442721	LMOD2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110869	congenital stationary night blindness 1E	HGNC:31371	Homo sapiens (human)	440435	GPR179	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050986	spinocerebellar ataxia type 40	HGNC:19967	Homo sapiens (human)	440193	CCDC88C	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10908	hydrocephalus	HGNC:19967	Homo sapiens (human)	440193	CCDC88C	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080567	congenital disorder of glycosylation Ip	HGNC:32456	Homo sapiens (human)	440138	ALG11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080070	mucolipidosis II alpha/beta	MGI:3643902	Mus musculus (house mouse)	432486	Gnptab	author statement supported by traceable reference	PMID:17962477 PMID:24127423 PMID:25107912 PMID:26857995

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