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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 **26 - 50** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0050185	erythema multiforme	CD40 CD40LG CD8A HLA-DQB1 VEGFA	3119 7422 925 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050200	Korean hemorrhagic fever	IL2RA	3559	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050211	swine influenza	PIK3CG	5294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050214	Lambert-Eaton myasthenic syndrome Aliases: Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome	CACNA1A CACNA1B CHRM1	1128 773 774	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050328	congenital hypothyroidism	ARPC5 DUOX1 DUOX2 EGR1 FOS G6PD GH2 GHR INHBB NEFH NEFL NEFM NGFR PAX8 PPARGC1A RUNX2 SLC26A7 SLC5A5 TG TPO TRHR TSHR	10092 10891 115111 1958 2353 2539 2689 2690 3625 4741 4744 4747 4804 50506 53905 6528 7038 7173 7201 7253 7849 860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050331	lacrimoauriculodentodigital syndrome 1 Aliases: LEVY-HOLLISTER SYNDROME Lacrimo-auriculo-dento-digital syndrome 1	FGF10 FGFR2	2255 2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050336	hypophosphatemia	SLC34A1	6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050338	primary bacterial infectious disease	DUOX1 DUOX2 GLI1 GLI2 GLI3 IHH SHH SMO	2735 2736 2737 3549 50506 53905 6469 6608	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050340	opportunistic bacterial infectious disease	NFKB1 NFKB2 SMARCA2 SMARCA4 SMARCC1 SMARCC2	4790 4791 6595 6597 6599 6601	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050387	nonpapillary renal cell carcinoma	FLCN	201163	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050419	complement factor I deficiency Aliases: C3 INACTIVATOR DEFICIENCY COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY	CFI	3426	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	APC IHH MUTYH PLCG1	324 3549 4595 5335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050425	restless legs syndrome Aliases: WED Willis-Ekbom disease Wittmaack-Ekbom syndrome	DRD3 MEIS1 PTPRD SLC11A2 TF	1814 4211 4891 5789 7018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050426	Stevens-Johnson syndrome	CLU HLA-A HLA-B HLA-DQB1 TNF	1191 3105 3106 3119 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050427	xeroderma pigmentosum	DDB1 POLH TERF2 XPC	1642 5429 7014 7508	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050429	Hailey-Hailey disease Aliases: BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial	ATP2B4	493	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050430	multiple endocrine neoplasia type 2A Aliases: MEN2A Sipple syndrome multiple endocrine neoplasia II	RET	5979	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	ACTN2 CDH2 DES DSC1 DSC2 DSC3 DSG2 DSP IL6R JUP LMNA PKP2 PPP1R13L RYR2 SCN5A TGFB3 TMEM43	1000 10848 1674 1823 1824 1825 1829 1832 3570 3728 4000 5318 6262 6331 7043 79188 88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050432	Asperger syndrome	SLC25A12	8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050433	fatal familial insomnia	NEFL PRNP	4747 5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050436	mulibrey nanism Aliases: MUL Mulibrey growth disorder Muscle-Liver-Brain-Eye Nanism PERICARDIAL CONSTRICTION AND GROWTH FAILURE Perheentupa Syndrome	TRIM37	4591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	LAMP2	3920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050439	Usher syndrome	ARSG CLRN1 MYO7A USH2A	22901 4647 7399 7401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	ADRA2A LMNA PPARG	150 4000 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050445	X-linked dominant hypophosphatemic rickets Aliases: Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant	FAM20C PHEX	5251 56975	Homo sapiens (human)	Alliance of Genome Resources

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