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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 **9326 - 9350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0090115	spinocerebellar ataxia with axonal neuropathy 1 Aliases: SCAN1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 1 spinocerebellar ataxia with axonal neuropathy type 1	TDP1	55775	Homo sapiens (human)	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	ATF2 BMPR1B CEBPB CHST3 COL10A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP DYM FLNA FLNB GOLGB1 HSPG2 LIFR MATN3 NPPC PTH1R RNF146 RYR1 SLC26A2 TGFB1 TGFB2 TGFBR1 TRPS1	1051 1280 1297 1298 1299 1300 1302 1311 1386 1836 2316 2317 2804 3339 3977 4148 4880 54808 5745 6261 658 7040 7042 7046 7227 81847 9469	Homo sapiens (human)	Alliance of Genome Resources
DOID:799	varicose veins Aliases: Varix Venous ectasia Venous varices varices	DLL4 EFNB2 LUM MMP1 MMP9 PECAM1 VIM	1948 4060 4312 4318 5175 54567 7431	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110976	brachydactyly type E2 Aliases: BDE2	PTHLH	5744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070520	peeling skin syndrome 1 Aliases: PSS1 generalized inflammatory peeling skin syndrome inflammatory peeling skin syndrome peeling skin syndrome type B	CDSN	1041	Homo sapiens (human)	Alliance of Genome Resources
DOID:5138	leiomyomatosis	CD44 FH	2271 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060300	complement component 7 deficiency	C7	730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	MAGT1	84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:12798	mucopolysaccharidosis	ARSG ARSK GUSB HYAL1	153642 22901 2990 3373	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110541	autosomal dominant nonsyndromic deafness 1 Aliases: DFNA1 Konigsmark syndrome LFHL1 autosomal dominant deafness 1 autosomal dominant deafness 1, with or without thrombocytopenia hereditary low frequency hearing loss 1	DIAPH1	1729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110964	brachydactyly type A1 Aliases: BDA1 Farabee type brachydactyly	GDF5 IHH	3549 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	CALR CBS CD40LG CFL1 FUT2 GPX3 MTR PON1	1072 2524 2878 4548 5444 811 875 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	PLOD2	5352	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0090130	cortical dysplasia-focal epilepsy syndrome Aliases: CDFE syndrome CDFES PTHSL1 Pitt-Hopkins-like syndrome-1	CNTNAP2	26047	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:0080254	orofaciodigital syndrome XVI	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:2339	Crouzon syndrome Aliases: Craniofacial Dysostosis	FGFR2	2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080066	autosomal recessive spinocerebellar ataxia 20 Aliases: SCAR20	SNX13	23161	Homo sapiens (human)	Alliance of Genome Resources
DOID:9415	allergic asthma Aliases: extrinsic asthma with acute exacerbation extrinsic asthma with status asthmaticus	EPX HLA-B HLA-C HLA-DPA1 HLA-DPB1 HLA-DRB1	3106 3107 3113 3115 3123 8288	Homo sapiens (human)	Alliance of Genome Resources
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	ATP6V0C CD34 CD93 CDH5 EMCN FLT1 FLT4 KDR PTPRB ROBO4	1003 22918 2321 2324 3791 51705 527 54538 5787 947	Homo sapiens (human)	Alliance of Genome Resources
DOID:1172	hyperlipoproteinemia type IV Aliases: Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia	APOA5 APOC2	116519 344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070467	carpal tunnel syndrome 2 Aliases: CTS2	COMP	1311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110084	arrhythmogenic right ventricular dysplasia 13 Aliases: ARVC13 ARVD13 arrhythmogenic right ventricular cardiomyopathy 13 familial arrhythmogenic right ventricular dysplasia 13	CTNNA3	29119	Homo sapiens (human)	Alliance of Genome Resources
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	A2M ACE ADM ADRB2 CCKBR CCL2 CD274 ELANE ENO2 F2 HLA-DRA HLA-DRB1 HSPA1B IFNG IL10 IL19 IL1RN MBL2 MC2R MIF NOS2 NPPC PDCD1 PROC PTX3 REN SELL SERPINC1 SERPINE1 SERPINF1 SERPING1 SFTPB TBXA2R TFPI THPO TNF TREM1	133 154 1636 1991 2 2026 2147 29126 29949 3122 3123 3304 3458 3557 3586 4153 4158 4282 462 4843 4880 5054 5133 5176 54210 5624 5806 5972 6347 6402 6439 6915 7035 7066 710 7124 887	Homo sapiens (human)	Alliance of Genome Resources
DOID:14748	Sotos syndrome Aliases: cerebral gigantism	NSD1	64324	Homo sapiens (human)	Alliance of Genome Resources

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