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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 **5576 - 5600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POR REN	1583 1584 1585 1586 1589 5447 5972	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080893	Bainbridge-Ropers syndrome Aliases: ASXL3-related disorder	ASXL3	80816	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:4377	egg allergy Aliases: Allergy to eggs	GRIN2B IL13	2904 3596	Homo sapiens (human)	Alliance of Genome Resources
DOID:4449	macular retinal edema Aliases: macular edema macular oedema macular retinal oedema	APOH CCL2 CLU EPO FLT1 HIF1A IL6 KDR NOS3 SERPINF1 VEGFA	1191 2056 2321 3091 350 3569 3791 4846 5176 6347 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050748	marginal zone lymphoma Aliases: marginal zone B-cell lymphoma	HLA-DQA1 HLA-DQB1	3117 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:11457	brain compression	CFL1	1072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060571	Ritscher-Schinzel syndrome 1	WASHC5	9897	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111788	Melnick-Needles syndrome Aliases: MNS Melnick-Needles osteodysplasty osteodysplasty of Melnick and Needles	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111862	congenital bilateral absence of vas deferens Aliases: CAVD CBAVD congenital bilateral agenesis of vas deferens congenital bilateral aplasia of vas deferens	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:11555	Fuchs' endothelial dystrophy Aliases: FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy	AGBL1 C3 CLU COL8A2 LOXHD1 SLC4A11 TCF4 ZEB1	1191 123624 125336 1296 6925 6935 718 83959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112140	retinitis pigmentosa 83 Aliases: RP83	ARL3	403	Homo sapiens (human)	Alliance of Genome Resources
DOID:12177	common variable immunodeficiency Aliases: CVID acquired agammaglobulinemia acquired hypogammaglobulinemia common variable agammaglobulinemia sporadic hypogammaglobulinemia	DCLRE1C FCGR2A HLA-DQB1 ICOS IL21R MBL2 NFKB2 PECAM1	2212 29851 3119 4153 4791 50615 5175 64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110818	hereditary spastic paraplegia 73 Aliases: SPG73 autosomal dominant spastic paraplegia 73 autosomal dominant spastic paraplegia type 73	CPT1C	126129	Homo sapiens (human)	Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	ALDOC ATF4 ATF6 BDNF CD44 CX3CL1 EIF2A IL16 MIF NGF NTF3 NTRK2 NTRK3 PARG PARP1 SLC6A4	142 22926 230 3603 4282 468 4803 4908 4915 4916 627 6376 6532 83939 8505 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111808	linear skin defects with multiple congenital anomalies 1 Aliases: MCOPS7 MIDAS syndrome Microphthalmia with linear skin defect syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia 7 syndromic microphthalmia type 7	HCCS	3052	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110553	autosomal dominant nonsyndromic deafness 23 Aliases: DFNA23 autosomal dominant deafness 23	SIX1	6495	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060247	Smith-McCort dysplasia	DYM RAB8B	51762 54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:8719	in situ carcinoma	AKT1 ALOX5 ALPL ANGPT1 CTNNB1 ESR1 IGF2R IGFBP6 MKI67 PDGFRA PDPN POU5F1 PTEN PTGES PTGS2 RB1 RUNX3 SFN SFRP1 XRCC1	10630 1499 207 2099 240 249 2810 284 3482 3489 4288 5156 5460 5728 5743 5925 6422 7515 864 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111473	combined oxidative phosphorylation deficiency 5 Aliases: COXPD5 hypotonia with lactic acidemia and hyperammonemia	MRPS22	56945	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	EPCAM	4072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070236	Loeys-Dietz syndrome 5 Aliases: LDS5 RNHF Reinhoff syndrome	TGFB3	7043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060797	hypomyelinating leukodystrophy 8 Aliases: HLD8	POLR3B	55703	Homo sapiens (human)	Alliance of Genome Resources
DOID:6543	acne Aliases: Acne varioliformis acne vulgaris frontalis acne	CAT IL17A IL4R TLR2 TLR4 TNF TNFRSF1A TNFRSF1B	3566 3605 7097 7099 7124 7132 7133 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111286	psoriasis 1 Aliases: PSORS1	HLA-C	3107	Homo sapiens (human)	Alliance of Genome Resources

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