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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 **13951 - 13975** 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:0080128	mitochondrial DNA depletion syndrome 9	HGNC:11449	Homo sapiens (human)	8802	SUCLG1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070345	vertebral anomalies and variable endocrine and T-cell dysfunction	HGNC:11597	Homo sapiens (human)	6909	TBX2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060227	Adams-Oliver syndrome	HGNC:28526	Homo sapiens (human)	285203	EOGT	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14695	galactokinase deficiency	HGNC:4118	Homo sapiens (human)	2584	GALK1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111900	autosomal dominant thrombophilia due to protein S deficiency	HGNC:9456	Homo sapiens (human)	5627	PROS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070296	primary autosomal recessive microcephaly	HGNC:25604	Homo sapiens (human)	55262	TRAPPC14	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060342	acromelic frontonasal dysostosis	HGNC:29316	Homo sapiens (human)	57688	ZSWIM6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050648	atelosteogenesis	HGNC:3755	Homo sapiens (human)	2317	FLNB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060999	mitochondrial trifunctional protein deficiency 2	HGNC:4803	Homo sapiens (human)	3032	HADHB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070121	Meckel syndrome 7	HGNC:7907	Homo sapiens (human)	27031	NPHP3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080632	Fazio-Londe disease	HGNC:16187	Homo sapiens (human)	113278	SLC52A3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2366	West Nile fever	HGNC:1606	Homo sapiens (human)	1234	CCR5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050576	Senior-Loken syndrome	HGNC:17861	Homo sapiens (human)	26146	TRAF3IP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050547	familial medullary thyroid carcinoma	HGNC:9967	Homo sapiens (human)	5979	RET	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111999	immunodeficiency 61	HGNC:13867	Homo sapiens (human)	30011	SH3KBP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060774	congenital diarrhea	HGNC:13635	Homo sapiens (human)	83483	PLVAP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070288	primary autosomal recessive microcephaly 17	HGNC:1985	Homo sapiens (human)	11113	CIT	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14283	primary hypertrophic osteoarthropathy	HGNC:10955	Homo sapiens (human)	6578	SLCO2A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080283	developmental and epileptic encephalopathy 55	HGNC:3046	Homo sapiens (human)	51227	PIGP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111938	immunodeficiency 24	HGNC:2519	Homo sapiens (human)	1503	CTPS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111633	congenital sucrase-isomaltase deficiency	HGNC:10856	Homo sapiens (human)	6476	SI	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111598	distal arthrogryposis type 1B	HGNC:7549	Homo sapiens (human)	4604	MYBPC1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111189	distal myopathy 3	HGNC:5031	Homo sapiens (human)	3178	HNRNPA1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112358	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	HGNC:13655	Homo sapiens (human)	222663	SCUBE3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110592	autosomal dominant nonsyndromic deafness 70	HGNC:6944	Homo sapiens (human)	4171	MCM2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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