GlyCosmos Portal

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.

Database	Last Updated
Alliance of Genome Resources	February 28, 2024

Disease ID	Disease Name	Gene Symbol	Gene ID	Species	Alliance of Genome Resources ID	Evidence Code Names	References ▼
DOID:0070435	hyperphosphatasia with impaired intellectual development syndrome 3	PGAP2	27315	Homo sapiens	HGNC:17893	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N	POMT2	29954	Homo sapiens	HGNC:19743	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081337	congenital myopathy	HACD1	9200	Homo sapiens	HGNC:9639	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090133	complex cortical dysplasia with other brain malformations 2	KIF5C	3800	Homo sapiens	HGNC:6325	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110798	hereditary spastic paraplegia 46	GBA2	57704	Homo sapiens	HGNC:18986	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060445	congenital stromal corneal dystrophy	DCN	1634	Homo sapiens	HGNC:2705	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	23556	Homo sapiens	HGNC:8967	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112136	severe congenital neutropenia 4	G6PC3	92579	Homo sapiens	HGNC:24861	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060283	peeling skin syndrome	CHST8	64377	Homo sapiens	HGNC:15993	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080473	developmental delay and seizures with or without movement abnormalities	DHDDS	79947	Homo sapiens	HGNC:20603	inference by association of genotype from phenotype used in manual assertion	RGD:7240710