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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **7801 - 7825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0080464	developmental and epileptic encephalopathy 53 Aliases: DEE53 early infantile epileptic encephalopathy 53	SYNJ1	8867	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070269	congenital disorder of glycosylation type IIq Aliases: CDG IIq CDG2Q CDGIIdq COG2-CDG COG2-related congenital disorder of glycosylation	COG2	22796	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	SYNJ1 SYNJ2	8867 8871	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:7575	pancreatic intraductal papillary-mucinous neoplasm	AKT1 CEACAM5 FUT8 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 TP53	1048 207 23583 2530 5290 5291 5293 5294 5728 7157	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8791	breast carcinoma in situ Aliases: Non-Infiltrating carcinoma of breast carcinoma in situ of breast	AKR1B1 IGF2R	231 3482	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8826	colon carcinoma in situ Aliases: carcinoma in situ of colon stage 0 Colonic carcinoma	CEACAM5	1048	Homo sapiens (human)	DisGeNET
DOID:0080258	autosomal recessive congenital ichthyosis 14	SULT2B1	6820	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	PIGP	51227	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080288	spinocerebellar ataxia 46	PLD3	23646	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080265	nephrotic syndrome type 14	SGPL1	8879	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:14775	brittle cornea syndrome 1 Aliases: type VIB Ehlers-Danlos syndrome	CHST14	113189	Homo sapiens (human)	DisGeNET
DOID:0060063	sideroblastic anemia 1 Aliases: X-linked sideroblastic anaemia X-linked sideroblastic anemia XLSA sideroblastic anaemia 1	SUCLA2	8803	Homo sapiens (human)	DisGeNET
DOID:9544	refractory plasma cell neoplasm	CD38 CEACAM6 KLRK1 SDC1 SMUG1	22914 23583 4680 6382 952	Homo sapiens (human)	DisGeNET
DOID:711	refractory hairy cell leukemia	CD22	933	Homo sapiens (human)	DisGeNET
DOID:0050542	Charcot-Marie-Tooth disease type X	PRPS1	5631	Homo sapiens (human)	DisGeNET
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	KCNQ1 SCD	3784 6319	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070226	progressive familial intrahepatic cholestasis 1 Aliases: FIC1 deficiency PFIC1	ABO GGT1 HSD3B7 NAGLU OGA	10724 2678 28 4669 80270	Homo sapiens (human)	DisGeNET
DOID:4297	scimitar syndrome Aliases: Halasz syndrome congenital venolobar syndrome hypogenetic lung syndrome mirror-image lung syndrome pulmonary venolobar syndrome total anomalous pulmonary venous return vena cava bronchovascular syndrome	DHCR24 LFNG	1718 3955	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0070014	autosomal dominant dyskeratosis congenita 1 Aliases: DKCA1 Dyskeratosis Congenita, Scoggins Type	INPP4A	3631	Homo sapiens (human)	DisGeNET
DOID:0111112	nephronophthisis 1 Aliases: NPH1 NPHP1 juvenile nephronophthisis 1	ACE MLYCD STS UMOD	1636 23417 412 7369	Homo sapiens (human)	DisGeNET
DOID:14004	thoracic aortic aneurysm	B3GAT3 COL9A2 PKD1 PKD2 PLOD3 SLC2A10 VCAN	1298 1462 26229 5310 5311 81031 8985	Homo sapiens (human)	DisGeNET
DOID:0080582	hypotrichosis 14	LSS	4047	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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