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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 **476 - 500** 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:10584	retinitis pigmentosa	HGNC:1516	Homo sapiens (human)	847	CAT	direct assay evidence used in manual assertion	PMID:19293779
DOID:10283	prostate cancer	HGNC:393	Homo sapiens (human)	10000	AKT3	inference by association of genotype from phenotype used in manual assertion	PMID:22546513
DOID:0111086	Fanconi anemia complementation group G	HGNC:3588	Homo sapiens (human)	2189	FANCG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060222	Scheie syndrome	HGNC:5391	Homo sapiens (human)	3425	IDUA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3070	high grade glioma	RGD:2194	Rattus norvegicus (Norway rat)	25393	Bcan	direct assay evidence used in manual assertion	PMID:11585735
DOID:11335	sarcoidosis	HGNC:4944	Homo sapiens (human)	3119	HLA-DQB1	inference by association of genotype from phenotype used in manual assertion	PMID:9659531
DOID:0080570	congenital disorder of glycosylation It	SGD:S000001610	Saccharomyces cerevisiae S288C	853732	PGM1	genetic interaction evidence used in manual assertion	PMID:38743592
DOID:10808	gastric ulcer	RGD:3434	Rattus norvegicus (Norway rat)	25637	Ptger1	mutant phenotype evidence used in manual assertion	PMID:10807413
DOID:1168	familial hyperlipidemia	RGD:69051	Rattus norvegicus (Norway rat)	59086	Tgfb1	direct assay evidence used in manual assertion	PMID:16834981
DOID:0080451	developmental and epileptic encephalopathy 29	HGNC:20	Homo sapiens (human)	16	AARS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9352	type 2 diabetes mellitus	HGNC:4910	Homo sapiens (human)	3091	HIF1A	inference by association of genotype from phenotype used in manual assertion	PMID:16046581
DOID:3907	lung squamous cell carcinoma	HGNC:5383	Homo sapiens (human)	3418	IDH2	inference by association of genotype from phenotype used in manual assertion	PMID:27649069
DOID:3907	lung squamous cell carcinoma	HGNC:1959	Homo sapiens (human)	1138	CHRNA5	inference by association of genotype from phenotype used in manual assertion	PMID:23314339
DOID:303	substance-related disorder	RGD:2848	Rattus norvegicus (Norway rat)	25187	Htr2c	mutant phenotype evidence used in manual assertion	PMID:16474401
DOID:8923	skin melanoma	HGNC:7155	Homo sapiens (human)	4312	MMP1	inference by association of genotype from phenotype used in manual assertion	PMID:20655738 PMID:22198560
DOID:0090082	hypogonadotropic hypogonadism 20 with or without anosmia	HGNC:3673	Homo sapiens (human)	8822	FGF17	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3213	demyelinating disease	HGNC:6367	Homo sapiens (human)	5653	KLK6	inference by association of genotype from phenotype used in manual assertion	PMID:12023317
DOID:9884	muscular dystrophy	MGI:2447586	Mus musculus (house mouse)	243853	Fkrp	author statement supported by traceable reference	PMID:28859131
DOID:10283	prostate cancer	MGI:1928480	Mus musculus (house mouse)	56318	Acp3	author statement supported by traceable reference	PMID:24039861
DOID:0111340	dominant optic atrophy plus syndrome	HGNC:8140	Homo sapiens (human)	4976	OPA1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9352	type 2 diabetes mellitus	MGI:104663	Mus musculus (house mouse)	16846	Lep	author statement supported by traceable reference	PMID:16280642
DOID:3345	xanthomatosis	RGD:2998	Rattus norvegicus (Norway rat)	300438	Ldlr	mutant phenotype evidence used in manual assertion	PMID:22293196
DOID:4450	renal cell carcinoma	HGNC:11920	Homo sapiens (human)	355	FAS	inference by association of genotype from phenotype used in manual assertion	PMID:12460460
DOID:9352	type 2 diabetes mellitus	HGNC:5467	Homo sapiens (human)	3482	IGF2R	inference by association of genotype from phenotype used in manual assertion	PMID:16868148
DOID:3910	lung adenocarcinoma	HGNC:6693	Homo sapiens (human)	53353	LRP1B	inference by association of genotype from phenotype used in manual assertion	PMID:18948947

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