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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 **10051 - 10075** 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:0111694	familial adult myoclonic epilepsy 7	HGNC:16854	Homo sapiens (human)	9693	RAPGEF2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111739	X-linked deafness 1	HGNC:9462	Homo sapiens (human)	5631	PRPS1	inference by association of genotype from phenotype used in manual assertion	PMID:25785835 RGD:7240710
DOID:12716	newborn respiratory distress syndrome	HGNC:10801	Homo sapiens (human)	6439	SFTPB	inference by association of genotype from phenotype used in manual assertion	PMID:11063734 PMID:12424586 PMID:7832777
DOID:0081213	autosomal recessive intellectual developmental disorder 50	HGNC:26114	Homo sapiens (human)	80153	EDC3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3083	chronic obstructive pulmonary disease	HGNC:11050	Homo sapiens (human)	6532	SLC6A4	inference by association of genotype from phenotype used in manual assertion	PMID:20981038
DOID:0060060	non-Hodgkin lymphoma	HGNC:6819	Homo sapiens (human)	10892	MALT1	inference by association of genotype from phenotype used in manual assertion	PMID:12560219
DOID:2841	asthma	HGNC:5973	Homo sapiens (human)	3596	IL13	inference by association of genotype from phenotype used in manual assertion	PMID:11588017 PMID:15315330 PMID:16024972 PMID:17006604 PMID:17303794 PMID:18341619 PMID:19575932 PMID:19796199 PMID:20198887 PMID:20484924 PMID:23317483 RGD:7240710
DOID:1883	hepatitis C	HGNC:1606	Homo sapiens (human)	1234	CCR5	inference by association of genotype from phenotype used in manual assertion	PMID:27304910 RGD:7240710
DOID:9008	psoriatic arthritis	HGNC:11365	Homo sapiens (human)	6775	STAT4	inference by association of genotype from phenotype used in manual assertion	PMID:22328738
DOID:2862	glucosephosphate dehydrogenase deficiency	HGNC:5962	Homo sapiens (human)	3586	IL10	inference by association of genotype from phenotype used in manual assertion	PMID:15718915
DOID:635	acquired immunodeficiency syndrome	HGNC:40	Homo sapiens (human)	5243	ABCB1	inference by association of genotype from phenotype used in manual assertion	PMID:23372834 PMID:24517233
DOID:11984	hypertrophic cardiomyopathy	HGNC:12665	Homo sapiens (human)	7414	VCL	inference by association of genotype from phenotype used in manual assertion	PMID:16236538
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:12361	Graves' disease	HGNC:2505	Homo sapiens (human)	1493	CTLA4	inference by association of genotype from phenotype used in manual assertion	PMID:10369864 PMID:10404810 PMID:12780750 PMID:14986169 PMID:15785242 PMID:20352109 PMID:9672157
DOID:0111957	immunodeficiency 11A	HGNC:16393	Homo sapiens (human)	84433	CARD11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:83	cataract	HGNC:7782	Homo sapiens (human)	4780	NFE2L2	inference by association of genotype from phenotype used in manual assertion	PMID:20064547
DOID:10283	prostate cancer	HGNC:6859	Homo sapiens (human)	6885	MAP3K7	inference by association of genotype from phenotype used in manual assertion	PMID:17785553
DOID:9279	hyperhomocysteinemia	HGNC:7468	Homo sapiens (human)	4548	MTR	inference by association of genotype from phenotype used in manual assertion	PMID:12068375
DOID:0110474	autosomal recessive nonsyndromic deafness 18B	HGNC:8516	Homo sapiens (human)	340990	OTOG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10584	retinitis pigmentosa	HGNC:6055	Homo sapiens (human)	3617	IMPG1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060179	Renpenning syndrome	HGNC:9330	Homo sapiens (human)	10084	PQBP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10763	hypertension	HGNC:20580	Homo sapiens (human)	120227	CYP2R1	inference by association of genotype from phenotype used in manual assertion	PMID:24974252 PMID:28760944 PMID:30192652 PMID:34906413
DOID:9352	type 2 diabetes mellitus	HGNC:10839	Homo sapiens (human)	6462	SHBG	inference by association of genotype from phenotype used in manual assertion	PMID:19657112
DOID:0070579	spermatogenic failure 80	HGNC:24245	Homo sapiens (human)	92749	DRC1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070235	Loeys-Dietz syndrome 1	HGNC:11772	Homo sapiens (human)	7046	TGFBR1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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