GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Alliance of Genome Resources ID

Species

Gene ID

Gene Symbol

FlyGlycoDB

Evidence

References

Display
results per page.

Clear

Submissions

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 **13351 - 13375** of **14279** in total

« First

‹ Prev

…

531

532

533

534

535

536

537

538

539

…

Next ›

Last »
Disease ID	Disease Name	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	Evidence	References ▲
DOID:0112210	developmental and epileptic encephalopathy 74	HGNC:4087	Homo sapiens (human)	2566	GABRG2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111302	generalized epilepsy with febrile seizures plus 1	HGNC:10586	Homo sapiens (human)	6324	SCN1B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111548	ring dermoid of cornea	HGNC:9005	Homo sapiens (human)	5308	PITX2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110540	autosomal recessive nonsyndromic deafness 98	HGNC:1268	Homo sapiens (human)	54084	TSPEAR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12365	malaria	HGNC:7873	Homo sapiens (human)	4843	NOS2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050591	tooth agenesis	HGNC:1268	Homo sapiens (human)	54084	TSPEAR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9620	vesicoureteral reflux	HGNC:11976	Homo sapiens (human)	7148	TNXB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111315	obsolete idiopathic generalized epilepsy 14	HGNC:13818	Homo sapiens (human)	57468	SLC12A5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110241	cataract 41	HGNC:12762	Homo sapiens (human)	7466	WFS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080439	developmental and epileptic encephalopathy 14	HGNC:18865	Homo sapiens (human)	57582	KCNT1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:612	primary immunodeficiency disease	HGNC:15879	Homo sapiens (human)	56259	CTNNBL1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070432	hyperphosphatasia with impaired intellectual development syndrome 5	HGNC:23213	Homo sapiens (human)	284098	PIGW	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:11949	Creutzfeldt-Jakob disease	HGNC:4944	Homo sapiens (human)	3119	HLA-DQB1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110831	Usher syndrome type 1D	HGNC:13733	Homo sapiens (human)	64072	CDH23	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia	HGNC:20626	Homo sapiens (human)	55636	CHD7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080661	nonsyndromic aplasia cutis congenita	HGNC:23505	Homo sapiens (human)	9790	BMS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:4997	Camurati-Engelmann disease	HGNC:11766	Homo sapiens (human)	7040	TGFB1	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:0111631	familial erythrocytosis 7	HGNC:4823	Homo sapiens (human)	3039	HBA1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10871	age related macular degeneration	HGNC:3602	Homo sapiens (human)	10516	FBLN5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K	HGNC:9202	Homo sapiens (human)	10585	POMT1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060542	Hermansky-Pudlak syndrome 4	HGNC:15844	Homo sapiens (human)	89781	HPS4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080570	congenital disorder of glycosylation It	HGNC:8905	Homo sapiens (human)	5236	PGM1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090113	RIDDLE syndrome	HGNC:26661	Homo sapiens (human)	165918	RNF168	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070437	hyperphosphatasia with impaired intellectual development syndrome 6	HGNC:28213	Homo sapiens (human)	84992	PIGY	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

International Collaboration

Acknowledgements