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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 **351 - 375** 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:8584	Burkitt lymphoma	HGNC:1133	Homo sapiens (human)	695	BTK	mutant phenotype evidence used in manual assertion	PMID:30546948
DOID:8584	Burkitt lymphoma	MGI:97250	Mus musculus (house mouse)	17869	Myc	author statement supported by traceable reference	PMID:15687498 PMID:22081075 PMID:3906410
DOID:8584	Burkitt lymphoma	HGNC:7553	Homo sapiens (human)	4609	MYC	inference by association of genotype from phenotype used in manual assertion	PMID:8220424 PMID:8397370 RGD:7240710
DOID:0080695	Burn-McKeown syndrome	HGNC:30551	Homo sapiens (human)	10907	TXNL4A	inference by association of genotype from phenotype used in manual assertion	PMID:25434003 PMID:28905882 RGD:7240710
DOID:0050456	Buruli ulcer disease	HGNC:10907	Homo sapiens (human)	6556	SLC11A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111536	Buschke-Ollendorff syndrome	HGNC:28887	Homo sapiens (human)	23592	LEMD3	inference by association of genotype from phenotype used in manual assertion	PMID:19438932 PMID:20678097 PMID:21985280 RGD:7240710
DOID:0111581	C syndrome	HGNC:16892	Homo sapiens (human)	10225	CD96	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111035	CADASIL 1	HGNC:7883	Homo sapiens (human)	4854	NOTCH3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111035	CADASIL 1	MGI:99460	Mus musculus (house mouse)	18131	Notch3	author statement supported by traceable reference	PMID:21940951 PMID:25917818
DOID:0080205	CAKUT	HGNC:1071	Homo sapiens (human)	652	BMP4	inference by association of genotype from phenotype used in manual assertion	PMID:24131739
DOID:0080205	CAKUT	MGI:96788	Mus musculus (house mouse)	16880	Lifr	author statement supported by traceable reference	PMID:28334964
DOID:0080205	CAKUT	HGNC:5233	Homo sapiens (human)	3304	HSPA1B	inference by association of genotype from phenotype used in manual assertion	PMID:20692469
DOID:0080205	CAKUT	HGNC:8001	Homo sapiens (human)	8204	NRIP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080206	CAKUT1	HGNC:29043	Homo sapiens (human)	25778	DSTYK	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080207	CAKUT2	HGNC:1071	Homo sapiens (human)	652	BMP4	inference by association of genotype from phenotype used in manual assertion	PMID:21927809
DOID:0060022	CD40 ligand deficiency	HGNC:11935	Homo sapiens (human)	959	CD40LG	inference by association of genotype from phenotype used in manual assertion	PMID:15358621 PMID:16508335 PMID:17553565 RGD:7240710
DOID:0060022	CD40 ligand deficiency	HGNC:11935	Homo sapiens (human)	959	CD40LG	direct assay evidence used in manual assertion	PMID:21841160
DOID:0060337	CEDNIK syndrome	MGI:1914724	Mus musculus (house mouse)	67474	Snap29	author statement supported by traceable reference	PMID:26747696
DOID:0060337	CEDNIK syndrome	HGNC:11133	Homo sapiens (human)	9342	SNAP29	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050834	CHARGE syndrome	HGNC:20626	Homo sapiens (human)	55636	CHD7	inference by association of genotype from phenotype used in manual assertion	PMID:18073582 PMID:18445044 PMID:20624498 PMID:22033296 PMID:23333604 RGD:7240710
DOID:0050834	CHARGE syndrome	MGI:98834	Mus musculus (house mouse)	22059	Trp53	author statement supported by traceable reference	PMID:25119037
DOID:0050834	CHARGE syndrome	FB:FBgn0266557	Drosophila melanogaster (fruit fly)	33185	kis	combinatorial experimental and author inference evidence used in manual assertion	PMID:18832354 PMID:20716578 PMID:25412171
DOID:0111822	CHILD syndrome	HGNC:13398	Homo sapiens (human)	50814	NSDHL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112152	CHIME syndrome	HGNC:8966	Homo sapiens (human)	9487	PIGL	inference by association of genotype from phenotype used in manual assertion	PMID:22444671 RGD:7240710
DOID:0111898	CK syndrome	HGNC:13398	Homo sapiens (human)	50814	NSDHL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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