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 **526 - 550** of **14279** in total

« First

‹ Prev

…

18

19

20

21

22

23

24

25

26

…

Next ›

Last »
Disease ID	Disease Name	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	Evidence	References ▼
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A	HGNC:4181	Homo sapiens (human)	8729	GBF1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110265	cataract 31 multiple types	HGNC:16171	Homo sapiens (human)	128866	CHMP4B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110548	autosomal dominant nonsyndromic deafness 17	HGNC:7579	Homo sapiens (human)	4627	MYH9	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111464	combined oxidative phosphorylation deficiency 35	HGNC:20286	Homo sapiens (human)	54802	TRIT1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060654	lethal congenital contracture syndrome 4	HGNC:7549	Homo sapiens (human)	4604	MYBPC1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060571	Ritscher-Schinzel syndrome 1	HGNC:28984	Homo sapiens (human)	9897	WASHC5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081157	dilated cardiomyopathy 1LL	HGNC:14000	Homo sapiens (human)	63976	PRDM16	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060937	dystonia 30	HGNC:14584	Homo sapiens (human)	64601	VPS16	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5	HGNC:11992	Homo sapiens (human)	7156	TOP3A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12365	malaria	HGNC:4703	Homo sapiens (human)	2994	GYPB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111787	frontometaphyseal dysplasia 2	HGNC:6859	Homo sapiens (human)	6885	MAP3K7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111899	X-linked thrombophilia due to factor IX defect	HGNC:3551	Homo sapiens (human)	2158	F9	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:5374	pilomatrixoma	HGNC:2514	Homo sapiens (human)	1499	CTNNB1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3827	congenital diaphragmatic hernia	HGNC:9091	Homo sapiens (human)	5358	PLS3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1338	congenital dyserythropoietic anemia	HGNC:9804	Homo sapiens (human)	29127	RACGAP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090117	thiamine-responsive megaloblastic anemia syndrome	HGNC:10938	Homo sapiens (human)	10560	SLC19A2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050957	spinocerebellar ataxia type 4	HGNC:777	Homo sapiens (human)	463	ZFHX3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:655	inherited metabolic disorder	HGNC:14409	Homo sapiens (human)	60386	SLC25A19	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060466	gingival fibromatosis	HGNC:11187	Homo sapiens (human)	6654	SOS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111854	primary ciliary dyskinesia 39	HGNC:25430	Homo sapiens (human)	115399	LRRC56	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060491	SPOAN syndrome	HGNC:20716	Homo sapiens (human)	64837	KLC2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9821	choroideremia	HGNC:1940	Homo sapiens (human)	1121	CHM	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070409	autosomal recessive spinocerebellar ataxia 28	HGNC:26053	Homo sapiens (human)	54974	THG1L	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050458	juvenile myelomonocytic leukemia	HGNC:7765	Homo sapiens (human)	4763	NF1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	HGNC:6174	Homo sapiens (human)	9445	ITM2B	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