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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

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Disease ID	Disease Name ▲	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	Evidence	References
DOID:0050211	swine influenza	HGNC:8978	Homo sapiens (human)	5294	PIK3CG	inference by association of genotype from phenotype used in manual assertion	PMID:29867955
DOID:12029	sympathetic ophthalmia	HGNC:4948	Homo sapiens (human)	3123	HLA-DRB1	inference by association of genotype from phenotype used in manual assertion	PMID:11222331 PMID:9062965
DOID:11193	syndactyly	HGNC:4319	Homo sapiens (human)	2737	GLI3	inference by association of genotype from phenotype used in manual assertion	PMID:25267529
DOID:0111816	syndactyly type 1	HGNC:5956	Homo sapiens (human)	3549	IHH	inference by association of genotype from phenotype used in manual assertion	PMID:21167467
DOID:0111818	syndactyly type 4	HGNC:10848	Homo sapiens (human)	6469	SHH	inference by association of genotype from phenotype used in manual assertion	PMID:18417549
DOID:0111819	syndactyly type 5	HGNC:5136	Homo sapiens (human)	3239	HOXD13	inference by association of genotype from phenotype used in manual assertion	PMID:17236141 RGD:7240710
DOID:0111813	syndactyly type 8	HGNC:3672	Homo sapiens (human)	8823	FGF16	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070538	syndromic X-linked intellectual developmental disorder bain type	HGNC:5042	Homo sapiens (human)	3188	HNRNPH2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070538	syndromic X-linked intellectual developmental disorder bain type	MGI:1201779	Mus musculus (house mouse)	56258	Hnrnph2	author statement supported by traceable reference	PMID:37463454
DOID:0060309	syndromic X-linked intellectual disability	HGNC:29873	Homo sapiens (human)	79576	NKAP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060309	syndromic X-linked intellectual disability	FB:FBgn0037671	Drosophila melanogaster (fruit fly)	41104	ATP6AP2	combinatorial experimental and author inference evidence used in manual assertion	PMID:26376863
DOID:0060309	syndromic X-linked intellectual disability	HGNC:2745	Homo sapiens (human)	1654	DDX3X	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060309	syndromic X-linked intellectual disability	HGNC:12869	Homo sapiens (human)	7543	ZFX	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060821	syndromic X-linked intellectual disability 14	HGNC:20439	Homo sapiens (human)	65109	UPF3B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060817	syndromic X-linked intellectual disability 34	HGNC:7871	Homo sapiens (human)	4841	NONO	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060823	syndromic X-linked intellectual disability 94	HGNC:4573	Homo sapiens (human)	2892	GRIA3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060822	syndromic X-linked intellectual disability Cabezas type	HGNC:2555	Homo sapiens (human)	8450	CUL4B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060806	syndromic X-linked intellectual disability Hedera type	HGNC:18305	Homo sapiens (human)	10159	ATP6AP2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060806	syndromic X-linked intellectual disability Hedera type	HGNC:18060	Homo sapiens (human)	170302	ARX	inference by association of genotype from phenotype used in manual assertion	PMID:12177367
DOID:0060799	syndromic X-linked intellectual disability Lubs type	HGNC:6990	Homo sapiens (human)	4204	MECP2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060807	syndromic X-linked intellectual disability Najm type	SGD:S000006125	Saccharomyces cerevisiae S288C	855897	HRR25	sequence similarity evidence used in manual assertion	PMID:28542158
DOID:0060807	syndromic X-linked intellectual disability Najm type	SGD:S000006125	Saccharomyces cerevisiae S288C	855897	HRR25	genetic interaction evidence used in manual assertion	PMID:28542158
DOID:0060807	syndromic X-linked intellectual disability Najm type	HGNC:1497	Homo sapiens (human)	8573	CASK	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070422	syndromic X-linked intellectual disability Pilorge type	HGNC:4327	Homo sapiens (human)	2742	GLRA2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060826	syndromic X-linked intellectual disability Shashi type	HGNC:9910	Homo sapiens (human)	27316	RBMX	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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