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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4601 - 4625** of **15957** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0080345	blepharocheilodontic syndrome 1	cdh1	114424	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080345	blepharocheilodontic syndrome 1	CDH1	999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080346	blepharocheilodontic syndrome 2	Ctnnd1	12388	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080346	blepharocheilodontic syndrome 2	CTNND1	1500	Homo sapiens (human)	Alliance of Genome Resources
DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome	FOXL2	668	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081442	blepharophimosis-impaired intellectual development syndrome Aliases: SMARCA2-related blepharophimosis-intellectual disability syndrome	SMARCA2	6595	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081442	blepharophimosis-impaired intellectual development syndrome Aliases: SMARCA2-related blepharophimosis-intellectual disability syndrome	SNF2	854465	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:529	blepharospasm	DRD5	1816	Homo sapiens (human)	Alliance of Genome Resources
DOID:529	blepharospasm	dop-1	180714	Caenorhabditis elegans	Alliance of Genome Resources
DOID:529	blepharospasm	Drd5	25195	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:529	blepharospasm	Dop1R1	41726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:529	blepharospasm	Drd5	13492	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:529	blepharospasm	drd5.S	108705891	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	Aqp4 Atp6v0e Pnpla6 Rpl26 Slc7a14	11829 11974 19941 241919 50767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	AQP4 ATP6V0E1 MYO15A PNPLA6 PNPLA7 RPL26 SLC7A14	10908 361 375775 51168 57709 6154 8992	Homo sapiens (human)	Alliance of Genome Resources
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	Aqp4	25293	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	MMP1 NTE1 PUT4 SAM3	850665 854530 854943 855854	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1247	blood coagulation disease Aliases: coagulation protein disease postpartum coagulation defect postpartum coagulation defect with delivery	PLAT	5327	Homo sapiens (human)	Alliance of Genome Resources
DOID:1247	blood coagulation disease Aliases: coagulation protein disease postpartum coagulation defect postpartum coagulation defect with delivery	Plat	18791	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1247	blood coagulation disease Aliases: coagulation protein disease postpartum coagulation defect postpartum coagulation defect with delivery	Plat	25692	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	pat-3 scav-2 scav-3 vab-1	173794 175504 176673 176787	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	CD36 EPHB2 FLI1 GP6 ITGB3 TBXA2R TPM4	2048 2313 3690 51206 6915 7171 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	Itgb3 Tbxa2r	24816 29302	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	Snmp2 mys	38868 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	Cd36 Ephb2 Gp6 Itgb3 Tbxa2r	12491 13844 16416 21390 243816	Mus musculus (house mouse)	Alliance of Genome Resources

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