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 **3626 - 3650** of **15957** in total

« First

‹ Prev

…

142

143

144

145

146

147

148

149

150

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060835	isolated microphthalmia 6 Aliases: MCOP6 posterior nonsyndromic microphthalmia	PRSS56	646960	Homo sapiens (human)	Alliance of Genome Resources
DOID:10155	intestinal cancer Aliases: malignant intestinal tumors malignant neoplasm of intestine	EGFR EMC1 ERBB2 ERBB3 ERBB4 FGR HCK HRAS KRAS MRE11 NOTCH1 NOTCH2 NOTCH3 NRAS PTPN1 PTPN2 RAB11A RAB11B SOX7 SRC YAP1	10413 1956 2064 2065 2066 2268 23065 3055 3265 3845 4361 4851 4853 4854 4893 5770 5771 6714 83595 8766 9230	Homo sapiens (human)	Alliance of Genome Resources
DOID:3307	teratoma	BAX CTNNB1 NME1 NME2 PGM1 PGM3 TERT TYMP WNT2B	1499 1890 4830 4831 5236 5238 581 7015 7482	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050590	severe congenital neutropenia	CSF3R ELANE HAX1	10456 1441 1991	Homo sapiens (human)	Alliance of Genome Resources
DOID:3981	pantothenate kinase-associated neurodegeneration Aliases: Hallervorden-Spatz disease Hallervorden-Spatz syndrome NBIA1 Pigmentary pallidal degeneration brain Iron Accumulation type I syndrome neurodegeneration with brain iron accumulation 1	PANK2 PANK3 SNCA SNCB SNCG	6620 6622 6623 79646 80025	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081395	Harel-Yoon syndrome Aliases: Ocular anomalies-axonal neuropathy-developmental delay syndrome	ATAD3A	55210	Homo sapiens (human)	Alliance of Genome Resources
DOID:3114	serous cystadenocarcinoma Aliases: serous adenocarcinoma serous carcinoma	LHCGR TP53 XPC	3973 7157 7508	Homo sapiens (human)	Alliance of Genome Resources
DOID:4648	familial retinoblastoma Aliases: Hereditary Retinoblastoma	RB1	5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050602	triple-A syndrome Aliases: AAAS Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome	AAAS	8086	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112133	severe congenital neutropenia 3 Aliases: Kostmann disease Kostmann syndrome SCN3 infantile agranulocytosis	HAX1	10456	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111723	Jacobsen Syndrome Aliases: Jacobsen distal 11q deletion syndrome chromosome 11q deletion syndrome partial 11q monosomy syndrome	FEZ2	9637	Homo sapiens (human)	Alliance of Genome Resources
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	AARS1 AARS2 ASPM AUTS2 CARS1 CDK5RAP2 CHKA CHKB CIT COPB2 DHX37 EFTUD2 ETNK1 ETNK2 EXOC7 KATNB1 KIF20B MAPKBP1 MFSD2A NSD1 ODF2 PSMB1 PUS7 SLC25A19 TUBA1A TUBB WDR62	10300 11113 1119 1120 16 203068 23005 23265 259266 26053 284403 4957 54517 55224 55500 55755 5689 57505 57647 60386 64324 7846 833 84879 9276 9343 9585	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080071	mucolipidosis III alpha/beta Aliases: mucolipidosis III pseudo-Hurler polydystrophy	GNPTAB	79158	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3951	acute myocarditis	CD40	958	Homo sapiens (human)	Alliance of Genome Resources
DOID:2988	antiphospholipid syndrome Aliases: APS antiphospholipid antibody syndrome	APOH CCL5 CD40LG HLA-DQA1 HLA-DQB1 HLA-DRB1 PLAT PROC	3117 3119 3123 350 5327 5624 6352 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070266	congenital disorder of glycosylation type IIn Aliases: CDG IIn CDG syndrome type IIn CDG2N CDGIIdn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG	SLC39A8	64116	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080434	developmental and epileptic encephalopathy 61 Aliases: DEE61 early infantile epileptic encephalopathy 61	ADAM22	53616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	DPM2	8818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110856	posterior polymorphous corneal dystrophy 2 Aliases: Ppcd2	COL8A2	1296	Homo sapiens (human)	Alliance of Genome Resources
DOID:3145	hyperlipoproteinemia type III Aliases: Remnant hyperlipidemia carbohydrate induced hyperlipemia familial hypercholesterolaemia with hyperlipaemia familial type 3 hyperlipoproteinemia	APOC3 APOE	345 348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	CHD2 CHD6 CHD7 CHD8 CHD9 SEMA3E TP53	1106 55636 57680 7157 80205 84181 9723	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080393	nephrotic syndrome type 18	NUP133	55746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112283	spondyloepiphyseal dysplasia Kondo-Fu type Aliases: SED with elevated blood lysosomal enzymes SEDKF	MBTPS1	8720	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