GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **8851 - 8875** of **15957** in total

« First

‹ Prev

…

351

352

353

354

355

356

357

358

359

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4797	SM-AHNMD Aliases: systemic mastocytosis with associated clonal haematological non-mast cell lineage disease systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease	ASXL1	171023	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070332	multiple mitochondrial dysfunctions syndrome 6	PMPCB UQCRC1	7384 9512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111725	geleophysic dysplasia 1 Aliases: GPHYSD1	ADAMTSL2	9719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111444	progressive myoclonus epilepsy 4 Aliases: AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome	SCARB2	950	Homo sapiens (human)	Alliance of Genome Resources
DOID:479	angiokeratoma Aliases: Angiokeratoma of skin Cutaneous Angiokeratoma skin angiokeratoma	NAGA	4668	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)	Alliance of Genome Resources
DOID:10632	Wolfram syndrome Aliases: WFS	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110545	autosomal dominant nonsyndromic deafness 13 Aliases: DFNA13 autosomal dominant deafness 13	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112207	developmental and epileptic encephalopathy 71 Aliases: DEE71 early infantile epileptic encephalopathy 71 glutaminase deficiency with neonatal epileptic encephalopathy	GLS	2744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110593	autosomal dominant nonsyndromic deafness 9 Aliases: DFNA9 autosomal dominant deafness 9	COCH	1690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080352	X-linked chondrodysplasia punctata 2 Aliases: Conradi-Hunermann Syndrome Happle syndrome	EBP	10682	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080487	peroxisome biogenesis disorder 13A Aliases: peroxisome biogenesis disorder 13A (Zellweger)	PEX14	5195	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	NPC1 NPC1L1	29881 4864	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110441	dilated cardiomyopathy 2B Aliases: CMD2B	GATAD1	57798	Homo sapiens (human)	Alliance of Genome Resources
DOID:5022	aflatoxins-related hepatocellular carcinoma	GGT1 GGTLC1 GGTLC2	2678 91227 92086	Homo sapiens (human)	Alliance of Genome Resources
DOID:14289	Ebstein anomaly Aliases: Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	MFAP4 RAI1	10743 4239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111642	autosomal recessive nonsyndromic deafness 114 Aliases: DFNB114 autosomal recessive deafness 114	GRB2	2885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111249	uveal coloboma-cleft lip and palate-intellectual disability Aliases: COB1 Uveal coloboma-cleft lip/palate-mental retardation syndrome coloboma-microphthalmos syndrome coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation	YAP1	10413	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112199	spondyloepimetaphyseal dysplasia with joint laxity type 2 Aliases: SEMD-MD SEMDJL2 spondyloepimetaphyseal dysplasia with joint laxicity, Hall type spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type	KIF22	3835	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081181	autosomal recessive intellectual developmental disorder 5	NSUN2	54888	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050175	tick-borne encephalitis Aliases: Central European encephalitis Far Eastern TBE Russian spring-summer encephalitis Siberian tick-borne encephalitis Taiga encephalitis Western European tick-borne encephalitis west-Siberian encephalitis	CD40 CD40LG	958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3 Aliases: EDMD3 Emery-Dreifuss muscular dystrophy 3, autosomal recessive	LMNA LMNB1 LMNB2	4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070387	developmental and epileptic encephalopathy 101 Aliases: DEE101 early infantile epileptic encephalopathy 101	GRIN1	2902	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements