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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 **151 - 175** 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:0050458	juvenile myelomonocytic leukemia	HGNC:1541	Homo sapiens (human)	867	CBL	inference by association of genotype from phenotype used in manual assertion	PMID:19571318 RGD:7240710
DOID:0050458	juvenile myelomonocytic leukemia	HGNC:2434	Homo sapiens (human)	1437	CSF2	mutant phenotype evidence used in manual assertion	PMID:9389708
DOID:0050458	juvenile myelomonocytic leukemia	MGI:96680	Mus musculus (house mouse)	16653	Kras	author statement supported by traceable reference	PMID:14699048 PMID:14966562 PMID:16720837
DOID:0050458	juvenile myelomonocytic leukemia	MGI:97306	Mus musculus (house mouse)	18015	Nf1	author statement supported by traceable reference	PMID:14982883
DOID:0050458	juvenile myelomonocytic leukemia	MGI:99511	Mus musculus (house mouse)	19247	Ptpn11	author statement supported by traceable reference	PMID:19179468
DOID:0050458	juvenile myelomonocytic leukemia	HGNC:6193	Homo sapiens (human)	3718	JAK3	inference by association of genotype from phenotype used in manual assertion	PMID:23832011
DOID:0050458	juvenile myelomonocytic leukemia	HGNC:9644	Homo sapiens (human)	5781	PTPN11	inference by association of genotype from phenotype used in manual assertion	PMID:12717436 RGD:7240710
DOID:0050458	juvenile myelomonocytic leukemia	HGNC:17073	Homo sapiens (human)	23092	ARHGAP26	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050460	Wolf-Hirschhorn syndrome	MGI:2150920	Mus musculus (house mouse)	116701	Fgfrl1	author statement supported by traceable reference	PMID:19383940
DOID:0050461	aspartylglucosaminuria	MGI:104873	Mus musculus (house mouse)	11593	Aga	author statement supported by traceable reference	PMID:8946839 PMID:9425233
DOID:0050461	aspartylglucosaminuria	HGNC:318	Homo sapiens (human)	175	AGA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050462	Antley-Bixler syndrome with disordered steroidogenesis	HGNC:9208	Homo sapiens (human)	5447	POR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050463	campomelic dysplasia	HGNC:11204	Homo sapiens (human)	6662	SOX9	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050464	Farber lipogranulomatosis	HGNC:735	Homo sapiens (human)	427	ASAH1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050464	Farber lipogranulomatosis	MGI:1277124	Mus musculus (house mouse)	11886	Asah1	author statement supported by traceable reference	PMID:11829492 PMID:23681708 PMID:29908121
DOID:0050465	Muir-Torre syndrome	HGNC:7325	Homo sapiens (human)	4436	MSH2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050465	Muir-Torre syndrome	HGNC:7127	Homo sapiens (human)	4292	MLH1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050466	Loeys-Dietz syndrome	MGI:98729	Mus musculus (house mouse)	21813	Tgfbr2	author statement supported by traceable reference	PMID:24355923
DOID:0050466	Loeys-Dietz syndrome	MGI:98726	Mus musculus (house mouse)	21808	Tgfb2	author statement supported by traceable reference	PMID:22772368
DOID:0050466	Loeys-Dietz syndrome	MGI:98728	Mus musculus (house mouse)	21812	Tgfbr1	author statement supported by traceable reference	PMID:24355923
DOID:0050469	Costello syndrome	HGNC:5173	Homo sapiens (human)	3265	HRAS	inference by association of genotype from phenotype used in manual assertion	PMID:16170316 PMID:16881968 PMID:25914166 RGD:7240710
DOID:0050470	Donohue syndrome	HGNC:6091	Homo sapiens (human)	3643	INSR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050471	Carney complex	HGNC:9388	Homo sapiens (human)	5573	PRKAR1A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050473	Alstrom syndrome	MGI:1934606	Mus musculus (house mouse)	236266	Alms1	author statement supported by traceable reference	MGI:6197902 MGI:6197907 PMID:16000322 PMID:16516152 PMID:17206865 PMID:28859131
DOID:0050473	Alstrom syndrome	HGNC:428	Homo sapiens (human)	7840	ALMS1	inference by association of genotype from phenotype used in manual assertion	PMID:11941369 PMID:16720663 PMID:22876109 RGD:7240710

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