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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 **51 - 75** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110994	Joubert syndrome 25 Aliases: JBTS25	CEP104	9731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081137	agammaglobulinemia 3	CD79A	973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070400	hypomyelinating leukodystrophy 19 Aliases: HLD19	TMEM63A	9725	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	Hadha	97212	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111725	geleophysic dysplasia 1 Aliases: GPHYSD1	ADAMTSL2	9719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080142	mosaic variegated aneuploidy syndrome 2	CEP57	9702	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111743	cerebellar ataxia type 47 Aliases: SCA47	PUM1	9698	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111694	familial adult myoclonic epilepsy 7 Aliases: BAFME7 FAME7 FCMTE7 benign adult familial myoclonic epilepsy 7 familial cortical myoclonic tremor and epilepsy 7	RAPGEF2	9693	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080387	nephrotic syndrome type 12	NUP93	9688	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome Aliases: CACP CACP syndrome CAP syndrome Jacobs syndrome PAC syndrome arthropathy-camptodactyly syndrome camptodactyly-arthropathy-pericarditis syndrome congenital familial hypertrophic synovitis familial fibrosing serositis pericarditis-arthropathy-camptodactyly syndrome	Prg4	96875	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1787	pericarditis	Prg4	96875	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081421	familial focal epilepsy with variable foci 1	DEPDC5	9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:11429	endometriosis of pelvic peritoneum	CD68	968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070282	primary autosomal recessive microcephaly 8 Aliases: MCPH8	CEP135	9662	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	SKIC3	9652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111723	Jacobsen Syndrome Aliases: Jacobsen distal 11q deletion syndrome chromosome 11q deletion syndrome partial 11q monosomy syndrome	FEZ2	9637	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110057	amelogenesis imperfecta type 2A1 Aliases: AI2A1 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1	KLK4	9622	Homo sapiens (human)	Alliance of Genome Resources
DOID:9597	Krukenberg carcinoma Aliases: Krukenberg neoplasm	CD44	960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CD40LG	959	Homo sapiens (human)	Alliance of Genome Resources
DOID:3951	acute myocarditis	CD40	958	Homo sapiens (human)	Alliance of Genome Resources
DOID:2959	hyperimmunoglobulin syndrome	CD40	958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060023	immunodeficiency with hyper IgM type 3 Aliases: CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency	CD40	958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050175	tick-borne encephalitis Aliases: Central European encephalitis Far Eastern TBE Russian spring-summer encephalitis Siberian tick-borne encephalitis Taiga encephalitis Western European tick-borne encephalitis west-Siberian encephalitis	CD40 CD40LG	958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:5050	Ehrlich tumor carcinoma Aliases: Ehrlich tumour carcinoma Ehrlich's tumor Ehrlich's tumour	CD40 CD40LG	958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080591	Klippel-Feil syndrome 3	GDF3	9573	Homo sapiens (human)	Alliance of Genome Resources

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