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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:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N	HGNC:19743	Homo sapiens (human)	29954	POMT2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1094	attention deficit hyperactivity disorder	HGNC:5006	Homo sapiens (human)	3156	HMGCR	inference by association of genotype from phenotype used in manual assertion	PMID:35642741
DOID:0050580	hereditary lymphedema	HGNC:11809	Homo sapiens (human)	7075	TIE1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9352	type 2 diabetes mellitus	HGNC:8744	Homo sapiens (human)	5126	PCSK2	inference by association of genotype from phenotype used in manual assertion	PMID:7698505
DOID:769	neuroblastoma	HGNC:18040	Homo sapiens (human)	57492	ARID1B	inference by association of genotype from phenotype used in manual assertion	PMID:23202128
DOID:0070346	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	HGNC:24555	Homo sapiens (human)	26173	INTS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111508	Torrance type platyspondylic dysplasia	HGNC:2200	Homo sapiens (human)	1280	COL2A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1793	pancreatic cancer	HGNC:7468	Homo sapiens (human)	4548	MTR	inference by association of genotype from phenotype used in manual assertion	PMID:18843018
DOID:0111769	46,XY sex reversal 6	HGNC:6848	Homo sapiens (human)	4214	MAP3K1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:13042	persistent fetal circulation syndrome	HGNC:2323	Homo sapiens (human)	1373	CPS1	inference by association of genotype from phenotype used in manual assertion	PMID:11407344
DOID:0080855	Parkinsonism	HGNC:4177	Homo sapiens (human)	2629	GBA1	inference by association of genotype from phenotype used in manual assertion	PMID:20838799
DOID:5325	Roberts syndrome	HGNC:27230	Homo sapiens (human)	157570	ESCO2	inference by association of genotype from phenotype used in manual assertion	PMID:15821733 PMID:18186147 RGD:7240710
DOID:0080315	megalencephalic leukoencephalopathy with subcortical cysts	HGNC:13308	Homo sapiens (human)	51704	GPRC5B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110050	Alzheimer's disease 18	HGNC:188	Homo sapiens (human)	102	ADAM10	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9970	obesity	HGNC:2228	Homo sapiens (human)	1312	COMT	inference by association of genotype from phenotype used in manual assertion	PMID:17497175
DOID:1059	intellectual disability	HGNC:3571	Homo sapiens (human)	2182	ACSL4	inference by association of genotype from phenotype used in manual assertion	PMID:11889465
DOID:10652	Alzheimer's disease	HGNC:6125	Homo sapiens (human)	3667	IRS1	inference by association of genotype from phenotype used in manual assertion	PMID:24589556
DOID:1612	breast cancer	HGNC:7794	Homo sapiens (human)	4790	NFKB1	inference by association of genotype from phenotype used in manual assertion	PMID:28797847
DOID:684	hepatocellular carcinoma	HGNC:5962	Homo sapiens (human)	3586	IL10	inference by association of genotype from phenotype used in manual assertion	PMID:26890368
DOID:987	alopecia	RGD:619973	Rattus norvegicus (Norway rat)	192107	Prss8	inference by association of genotype from phenotype used in manual assertion	PMID:20201958
DOID:9256	colorectal cancer	HGNC:1149	Homo sapiens (human)	701	BUB1B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1062	Fanconi syndrome	HGNC:11019	Homo sapiens (human)	6569	SLC34A1	inference by association of genotype from phenotype used in manual assertion	PMID:20335586
DOID:612	primary immunodeficiency disease	HGNC:18043	Homo sapiens (human)	55388	MCM10	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080284	developmental and epileptic encephalopathy 57	HGNC:18866	Homo sapiens (human)	343450	KCNT2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081063	DICER1 syndrome	HGNC:17098	Homo sapiens (human)	23405	DICER1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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