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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 **9626 - 9650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0050600	ABCD syndrome Aliases: ABCDS albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness	EDNRB	1910	Homo sapiens (human)	Alliance of Genome Resources
DOID:11372	megacolon Aliases: Dilatation of colon	EDNRB	1910	Homo sapiens (human)	Alliance of Genome Resources
DOID:9258	Waardenburg syndrome Aliases: Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome	EDNRB KITLG MITF	1910 4254 4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:10487	Hirschsprung's disease Aliases: Hirschsprung disease aganglionic megacolon congenital megacolon macrocolon pelvirectal achalasia total intestinal aganglionosis	ACHE CD14 EDNRB ERBB2 GDNF GFRA1 IHH ITGB1 KIT NGFR NTRK1 PINK1 RET SHH SLC2A1 STX1A WNT8B	1910 2064 2668 2674 3549 3688 3815 43 4804 4914 5979 6469 65018 6513 6804 7479 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:8455	pyridoxine deficiency anemia Aliases: vitamin B6 deficiency syndrome	AHCY	191	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111039	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Aliases: hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency	AHCY	191	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060365	mandibulofacial dysostosis with alopecia Aliases: MFDA	EDNRA	1909	Homo sapiens (human)	Alliance of Genome Resources
DOID:6364	migraine Aliases: migraine disorder migraine variant migraine with or without aura	CACNA1A CACNA1B CACNA1E CALCA CD40LG EDNRA ESR1 FOS HTR7 KCNK18 MAOA NOS3 NPPB TNF TRPV1	1909 2099 2353 3363 338567 4128 4846 4879 7124 7442 773 774 777 796 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	bre-4	190668	Caenorhabditis elegans	Alliance of Genome Resources
DOID:28	endocrine system disease	bre-4	190668	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2352	hemochromatosis Aliases: Haemochromatosis diabetes bronze iron storage disorder	drag-1	190602	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	drag-1	190602	Caenorhabditis elegans	Alliance of Genome Resources
DOID:8252	chronic rhinitis Aliases: Rhinitis - chronic	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:2388	renal artery disease Aliases: renal vascular disease vascular disorder of kidney	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:5845	anterolateral myocardial infarction	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:1687	neovascular glaucoma Aliases: secondary angle-closure glaucoma with rubeosis	EDN1 IL6 VEGFA	1906 3569 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:13550	angle-closure glaucoma Aliases: ACG - Angle-closure glaucoma Angle Closure Glaucoma Closed angle glaucoma Narrow cleft glaucoma primary open-angle glaucoma with narrow angles	APOE CAT EDN1 HGF LOXL1 MMP9 MUC5AC NOS3 TFAP2B	1906 3082 348 4016 4318 4586 4846 7021 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:900	hepatopulmonary syndrome	CX3CL1 EDN1 EDNRB NOS3 TNF VEGFA	1906 1910 4846 6376 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080472	developmental and epileptic encephalopathy 91 Aliases: infantile or early childhood epileptic encephalopathy 1	Ppp3ca	19055	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	Ppp1cb	19046	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	algn-7	190436	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	algn-7	190436	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110349	osteogenesis imperfecta type 9 Aliases: OI9 osteogenesis imperfecta type IX	Ppib	19035	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080540	galactosialidosis	Ctsa	19025	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	Ppargc1a	19017	Mus musculus (house mouse)	Alliance of Genome Resources

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