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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 **3901 - 3925** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0081352	congenital myopathy 20	RYR3	6263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110731	neuronal ceroid lipofuscinosis 3 Aliases: Batten disease CLN3 juvenile neuronal ceroid lipofuscinosis	CLCN3 CLCN6 CLN3 PPT1	1182 1185 1201 5538	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070511	polyhydramnios, megalencephaly, and symptomatic epilepsy Aliases: PMSE PMSE syndrome Pretzel syndrome	STRADA	92335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111083	Fanconi anemia complementation group D2 Aliases: FA4 FAD2 FANCD2 Fanconi pancytopenia type 4	FANCD2	2177	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110435	dilated cardiomyopathy 1GG Aliases: CMD1GG	SDHA	6389	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080081	nonsyndromic congenital nail disorder 3	PLCD1	5333	Homo sapiens (human)	Alliance of Genome Resources
DOID:906	peroxisomal disease Aliases: peroxisomal disorder	ACBD5	91452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111485	combined oxidative phosphorylation deficiency 24 Aliases: COXPD24	NARS2	79731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110177	Charcot-Marie-Tooth disease axonal type 2N Aliases: CMT2N Charcot-Marie-Tooth neuropathy axonal type 2N autosomal dominant Charcot-Marie-Tooth disease type 2N autosomal dominant axonal Charcot-Marie-Tooth disease type 2N	AARS1	16	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110315	hypertrophic cardiomyopathy 9 Aliases: CMH9 cardiomyopathy, familial hypertrophic, 9	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070453	xanthinuria type II Aliases: XAN2	MOCOS	55034	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111705	oculoectodermal syndrome Aliases: Toriello-Lacassie-Droste syndrome aplasia cutis congenita-epibulbar dermoids syndrome	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081220	autosomal recessive intellectual developmental disorder 58	ELP2	55250	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060074	ductal carcinoma in situ	AKR1C3 ANXA1 AR AREG BRCA1 BRCA2 CASP6 ERBB2 ERBB3 ERBB4 FLT1 HIF1A KLK10 MMP2 MMP9 NOTCH4 PAK2 PGR PRKCA PTGES PTGS2 PTK2 RB1 RELA SOCS3 SRC ST14 STAT5A TERT TFF1 TOP2A TP53 TYMP VEGFA	1890 2064 2065 2066 2321 301 3091 367 374 4313 4318 4855 5062 5241 5578 5655 5743 5747 5925 5970 6714 672 675 6768 6776 7015 7031 7153 7157 7422 839 8644 9021 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080950	alopecia-mental retardation syndrome 4	LSS	4047	Homo sapiens (human)	Alliance of Genome Resources
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	BMP4 CTNNB1 ERBB2 GPX1 SPARC SPP1	1499 2064 2876 652 6678 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080006	bone development disease	CSF1R FLNB LRP4 NPR2 TNFRSF11A	1436 2317 4038 4882 8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:8295	scabies Aliases: Infestation by Sarcoptes scabiei Infestation by Sarcoptes scabiei var hominis Sarcoptic itch	CAT	847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080628	alopecia-mental retardation syndrome 1	AHSG	197	Homo sapiens (human)	Alliance of Genome Resources
DOID:5389	oxyphilic adenoma Aliases: Follicular adenoma, oxyphilic cell Oncocytoma	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070521	peeling skin syndrome 2 Aliases: PSS2	TGM5	9333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110013	advanced sleep phase syndrome 3 Aliases: FASPS3 familial advanced sleep phase syndrome 3	PER3	8863	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112182	mismatch repair cancer syndrome Aliases: BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome	MLH1 MSH2 MSH6 POLE RNASET2 SLC22A9 TGFBR2 TP53	114571 2956 4292 4436 5426 7048 7157 8635	Homo sapiens (human)	Alliance of Genome Resources

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