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), 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 **6851 - 6875** of **7942** in total

« First

‹ Prev

…

271

272

273

274

275

276

277

278

279

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:3635	congenital myasthenic syndrome	ACHE AGRN ALG14 ALG2 B3GAT1 CHAT DPAGT1 GFPT1 GMPPB SEMA7A SLC25A1	1103 1798 199857 2673 27087 29925 375790 43 6576 8482 85365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050670	ataxic cerebral palsy Aliases: hypotonic cerebral palsy	CEL CYP2E1 NDUFAB1	1056 1571 4706	Homo sapiens (human)	DisGeNET
DOID:0050997	cerebellar ataxia, mental retardation and dysequlibrium syndrome Aliases: CAMRQ Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) Uner Tan syndrome VLDLR Cerebellar Hypoplasia	ADH1C HPGDS HSD11B1 PKD2 PRKCSH SFTPC	126 27306 3290 5311 5589 6440	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050145	adenoiditis Aliases: chronic adenoiditis	FCN2	2220	Homo sapiens (human)	DisGeNET
DOID:0111047	platelet-type bleeding disorder 14 Aliases: BDPLT14 thromboxane synthase deficiency	TBXAS1	6916	Homo sapiens (human)	DisGeNET
DOID:8931	Evans' syndrome	ABO ACSBG1 CD38 CD44 CD72 CLEC1B FCGR3B FCN2 GALC HPSE2 HPSE IL1R1 KLRD1 LGALS9 MBD4 MBL2 MICA MRC1 NCAM1 PNP PTEN PTGS1 PTGS2 SELE SELP SMPD1 STS VNN1	100507436 10855 2215 2220 23205 2581 28 3554 3824 3965 412 4153 4360 4684 4860 51266 5728 5742 5743 60495 6401 6403 6609 8876 8930 952 960 971	Homo sapiens (human)	DisGeNET
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CHI3L1 FCER2 HPRT1 IL18R1 MRC1 PIK3CA PIK3CB PIK3CD PIK3CG UNG	1116 2208 3251 4360 5290 5291 5293 5294 7374 8809	Homo sapiens (human)	DisGeNET
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	KLRK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC2A10 VCAM1	22914 5290 5291 5293 5294 5728 7412 81031	Homo sapiens (human)	DisGeNET
DOID:0080492	leukocyte adhesion deficiency 2	DHCR7 DLD FUT4 SLC35C1	1717 1738 2526 55343	Homo sapiens (human)	DisGeNET
DOID:7400	Nijmegen breakage syndrome Aliases: Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency NBS Seemanova syndrome II Seemanova syndrome type 2 ataxia-telangiectasia variant immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome	IDH1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN TMED3	142 23423 3417 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:0060466	gingival fibromatosis Aliases: hereditary gingival fibromatosis hereditary gingival hyperplasia	HAS3 HPSE ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG SLC2A4	10855 3038 3383 5290 5291 5293 5294 6517	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060182	microscopic colitis	CD14 PTEN	5728 929	Homo sapiens (human)	DisGeNET
DOID:0060184	lymphocytic colitis	CHGA PTEN	1113 5728	Homo sapiens (human)	DisGeNET
DOID:0080390	nephrotic syndrome type 1 Aliases: Finnish congenital nephrosis	ACE ALG1 GPC3 HSPG2 PLCE1 SDC2 SGPL1 TREH	11181 1636 2719 3339 51196 56052 6383 8879	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14064	acute poststreptococcal glomerulonephritis Aliases: Post-Streptococcal Glomerulonephritis	GAPDH MBL2	2597 4153	Homo sapiens (human)	DisGeNET
DOID:0050576	Senior-Loken syndrome Aliases: Loken Senior syndrome renal-retinal syndrome	ACE AGXT ALDH3A2 MLYCD UMOD	1636 189 224 23417 7369	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 HPSE	10855 60495	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2712	phimosis Aliases: Tight foreskin Tight frenulum	CYP1A1 CYP1B1 CYP27B1 SRD5A2	1543 1545 1594 6716	Homo sapiens (human)	DisGeNET
DOID:0070188	spermatogenic failure 1 Aliases: SPGF1 oligochiasmatic infertility oligosynaptic infertility	PDHA2	5161	Homo sapiens (human)	DisGeNET
DOID:0060257	dyschromatosis symmetrica hereditaria Aliases: reticulate acropigmentation of Dohi	ACE ARSH	1636 347527	Homo sapiens (human)	DisGeNET
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	APRT CAT CYP19A1 CYP2B6 PTEN SDHC UGT1A1	1555 1588 353 54658 5728 6391 847	Homo sapiens (human)	DisGeNET
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	ACAN COL9A2 COMT POFUT1 POGLUT1	1298 1312 176 23509 56983	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060258	reticulate acropigmentation of Kitamura Aliases: RAPK	ACAN COL9A2 COMT POFUT1 POGLUT1	1298 1312 176 23509 56983	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090029	CINCA Syndrome Aliases: IOMID syndrome NOMID syndrome Prieur-Griscelli syndrome chronic infantile neurological cutaneous articular syndrome chronic neurologic cutaneous and articular syndrome cryopyrin-associated periodic syndrome 3 infantile-onset multisystem inflammatory disease neonatal-onset multisystem inflammatory disease	FCGR3B PLCG2 RPE	2215 5336 6120	Homo sapiens (human)	DisGeNET
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	COL6A1 CSPG4	1291 1464	Homo sapiens (human)	DisGeNET 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

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements