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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 **6851 - 6875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	C14B9.8	176149	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	Phka2	110094	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	PHKA2	5256	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	CG7766	31839	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	Phkg2	140671	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	PHKG2	5261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	Phkg2	68961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111044	gray platelet syndrome Aliases: BDPLT4 GPS platelet alpha-granule deficiency platelet-type bleeding disorder 4	NBEAL2	23218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111046	platelet-type bleeding disorder 10 Aliases: BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency	scav-2 scav-3 srp-3	176673 176787 178672	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111046	platelet-type bleeding disorder 10 Aliases: BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency	CD36 SERPINE1	5054 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111046	platelet-type bleeding disorder 10 Aliases: BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency	Snmp2	38868	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111046	platelet-type bleeding disorder 10 Aliases: BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency	Serpine1	24617	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111046	platelet-type bleeding disorder 10 Aliases: BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency	Cd36	12491	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111050	Quebec platelet disorder Aliases: BDPLT5 factor V Quebec platelet-type bleeding disorder 5	PLAU	5328	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111051	platelet-type bleeding disorder 18 Aliases: BDPLT18 bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency	RASGRP2	10235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	Ano6	105722	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	ANO6	196527	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111053	platelet-type bleeding disorder 15 Aliases: BDPLT15 autosomal dominant macrothrombocytopenia ACTN1-related	ACTN1	87	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111054	von Willebrand's disease 3 Aliases: VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III	VWF	7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111054	von Willebrand's disease 3 Aliases: VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III	Vwf	22371	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111056	platelet-type bleeding disorder 3 Aliases: BDPLT3 PT-VWD platelet type-von Willebrand disease pseudo-von Willebrand disease von Willebrand disease platelet-type	Gp1ba	14723	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111056	platelet-type bleeding disorder 3 Aliases: BDPLT3 PT-VWD platelet type-von Willebrand disease pseudo-von Willebrand disease von Willebrand disease platelet-type	GP1BA	2811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111057	platelet-type bleeding disorder 11 Aliases: BDPLT11 GP VI deficiency glycoprotein VI deficiency	Gp6	243816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111057	platelet-type bleeding disorder 11 Aliases: BDPLT11 GP VI deficiency glycoprotein VI deficiency	GP6	51206	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111059	Bernard-Soulier syndrome type A2 Aliases: BSSA2	GP1BA	2811	Homo sapiens (human)	Alliance of Genome Resources

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