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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:0111392	mucopolysaccharidosis type IVB	HGNC:4298	Homo sapiens (human)	2720	GLB1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080913	cerebrooculofacioskeletal syndrome 3	HGNC:3437	Homo sapiens (human)	2073	ERCC5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050331	lacrimoauriculodentodigital syndrome 1	HGNC:3689	Homo sapiens (human)	2263	FGFR2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria	HGNC:20305	Homo sapiens (human)	142680	SLC34A3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9256	colorectal cancer	HGNC:19877	Homo sapiens (human)	79695	GALNT12	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q	HGNC:23537	Homo sapiens (human)	55526	DHTKD1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14557	primary pulmonary hypertension	HGNC:6278	Homo sapiens (human)	3777	KCNK3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:399	tuberculosis	HGNC:11848	Homo sapiens (human)	7097	TLR2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111801	syndromic microphthalmia 3	HGNC:11195	Homo sapiens (human)	6657	SOX2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110765	hereditary spastic paraplegia 12	HGNC:10468	Homo sapiens (human)	6253	RTN2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110224	Brugada syndrome 7	HGNC:20665	Homo sapiens (human)	55800	SCN3B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110677	congenital myasthenic syndrome 4B	HGNC:1966	Homo sapiens (human)	1145	CHRNE	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110500	autosomal recessive nonsyndromic deafness 42	HGNC:28741	Homo sapiens (human)	286676	ILDR1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110357	retinitis pigmentosa 35	HGNC:10729	Homo sapiens (human)	64218	SEMA4A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060912	craniosynostosis 7	HGNC:6772	Homo sapiens (human)	4091	SMAD6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110195	Charcot-Marie-Tooth disease type 4E	HGNC:3239	Homo sapiens (human)	1959	EGR2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050534	congenital stationary night blindness	HGNC:4689	Homo sapiens (human)	3000	GUCY2D	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050691	branchiooculofacial syndrome	HGNC:11742	Homo sapiens (human)	7020	TFAP2A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110852	rhizomelic chondrodysplasia punctata type 2	HGNC:4416	Homo sapiens (human)	8443	GNPAT	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:5419	schizophrenia	HGNC:11495	Homo sapiens (human)	6854	SYN2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1339	Diamond-Blackfan anemia	HGNC:26087	Homo sapiens (human)	55027	HEATR3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112237	lissencephaly 1	HGNC:8574	Homo sapiens (human)	5048	PAFAH1B1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080046	Stickler syndrome	HGNC:2219	Homo sapiens (human)	1299	COL9A3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D	HGNC:10805	Homo sapiens (human)	6442	SGCA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060704	lymphoproliferative syndrome	HGNC:11937	Homo sapiens (human)	970	CD70	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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