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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 **5826 - 5850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4407	phototoxic dermatitis Aliases: Photosensitisation reaction Photosensitive Dermatitis Photosensitiveness	ANXA5 CAT DGAT1 FCGR3B FOLR1 INPP5K PARP1 PTGS2 RPE SMUG1 SOAT1 TMED9	142 2215 2348 23583 308 51763 54732 5743 6120 6646 847 8694	Homo sapiens (human)	DisGeNET DisGeNET
DOID:6420	pulmonary valve stenosis	ARSD B3GLCT B4GALT7 CHST3 CYP24A1 ENPP1 FKTN G6PC3 GALNT1 PIGQ PMM2 SMC3	11285 145173 1591 2218 2589 414 5167 5373 9091 9126 92579 9469	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	DCN ENPP1 LSS	1634 4047 5167	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050657	Bannayan-Riley-Ruvalcaba syndrome Aliases: Bannayan-Zonana syndrome Cowden syndrome 1 Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome	ACAN ACAT1 ACE ARSD CEACAM6 CHST3 COL9A2 CYP11A1 DGCR2 GPX1 IL18RAP INPP5E MBL2 MUTYH PIGX PIK3CA PIK3CB PIK3CD PIK3CG PTEN SCD SDC1 SDHB SDHC SDHD SORD	1298 1583 1636 176 2876 38 414 4153 4595 4680 5290 5291 5293 5294 54965 56623 5728 6319 6382 6390 6391 6392 6652 8807 9469 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110554	autosomal dominant nonsyndromic deafness 24 Aliases: DFNA24 autosomal dominant deafness 24	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:4839	sebaceous adenocarcinoma Aliases: Sebaceous carcinoma adenocarcinoma of the Sebaceous gland	CD44 MUTYH PIK3CA PTEN	4595 5290 5728 960	Homo sapiens (human)	DisGeNET
DOID:0060193	amyotrophic lateral sclerosis type 1 Aliases: ALS1 amyotrophic lateral sclerosis 1	ACACA ACHE ALG1 ALPI ALPP APRT ASAH1 CAT CHI3L1 CLEC10A CNTN4 CYP27A1 FCN2 FIG4 GFRA1 GPX1 HEXB HK2 INPP4B MASP1 NT5E OGA OPCML OTOG PNPLA6 RTN4R SARM1 SLC17A5 SLC33A1 TIGAR TMED9	10462 10724 10908 1116 152330 1593 2220 23098 248 250 26503 2674 2876 3074 3099 31 340990 353 427 43 4907 4978 54732 56052 5648 57103 65078 847 8821 9197 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050453	lissencephaly	ALPP ATP6V0A2 ATP6V1A ATRNL1 B3GALNT2 B4GAT1 CD33 CD38 COMT CRPPA CYP2B6 DAG1 DHCR24 DLD DLST FCN2 FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL OCRL PAFAH1B1 PIGA PIGN PIGP PIGQ PLCB1 PLCE1 PLCG1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RXYLT1 SDC2 SLC17A5 STS TMTC3	10329 10585 11041 1312 148789 1555 160418 1605 1718 1738 1743 2218 2220 23236 23545 23556 250 26033 26503 29954 3339 412 4952 5048 50814 51196 51227 523 5277 5335 55624 5728 6383 729920 79147 84197 84892 9091 9215 945 952 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	CEACAM5 CEACAM7 LDHA MRC1 NEU1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1 VTCN1	1048 1087 23583 3939 4360 4758 5290 5291 5293 5294 79679	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3205	melanotic neurilemmoma Aliases: Melanotic Schwannoma Pigmented Neurilemmoma Pigmented schwannoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	EFNA5 PLA2G7	1946 7941	Homo sapiens (human)	DisGeNET
DOID:12129	bulimia nervosa Aliases: hyperorexia nervosa	ACACA AGPAT2 CALR CHODL COMT EFNA5 HGSNAT MAN1B1 SLC3A1 ST8SIA4	10555 11253 1312 138050 140578 1946 31 6519 7903 811	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050967	spinocerebellar ataxia type 17	PDIA3	2923	Homo sapiens (human)	DisGeNET
DOID:0080492	leukocyte adhesion deficiency 2	DHCR7 DLD FUT4 SLC35C1	1717 1738 2526 55343	Homo sapiens (human)	DisGeNET
DOID:310	MERRF syndrome Aliases: Fukuhara syndrome Myoclonic epilepsy - ragged red fibers Myoclonus epilepsy AND ragged red fibers Myoclonus with epilepsy and with Ragged Red Fibers	CLN5 EPM2A	1203 7957	Homo sapiens (human)	DisGeNET
DOID:14753	isovaleric acidemia Aliases: Isovaleryl-CoA dehydrogenase deficiency isovaleric acid CoA dehydrogenase deficiency isovaleric aciduria	PIK3CA PLA2G1B PLB1 PTGES PTGS1 PTGS2	151056 5290 5319 5742 5743 9536	Homo sapiens (human)	DisGeNET
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:13378	Kawasaki disease Aliases: Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome	ABO ACE ACHE ADIPOQ AMACR ATP6AP2 CAT CD14 CD177 CD209 CEACAM5 CERS6 CHI3L1 CLEC6A CLEC7A CYP2C9 CYP2E1 FCER2 FCGR3B FCN1 FUT1 GAPDH GLB1 HSD11B2 ICAM1 IL1R1 IL1RAP ITPKC KLRC1 KLRK1 LDHA MBL2 MDGA1 NCAM1 OLR1 PGK1 PLA2G7 PLCB1 PLCB4 PTGS2 SDC1 SELE SELP SLC35F5 ST6GAL1 STS TLR4 TNF ULBP1 VCAM1	10159 1048 1116 1559 1571 1636 2208 2215 2219 22914 23236 23600 2523 253782 2597 266727 2720 28 30835 3291 3383 3554 3556 3821 3939 412 4153 43 4684 4973 5230 5332 57126 5743 6382 6401 6403 64581 6480 7099 7124 7412 7941 80255 80271 80329 847 929 9370 93978	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1627	intraductal papilloma Aliases: ductal papilloma	CD44 PIK3CA	5290 960	Homo sapiens (human)	DisGeNET
DOID:0110537	autosomal recessive nonsyndromic deafness 93 Aliases: DFNB93 autosomal recessive deafness 93	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:0050428	nonepidermolytic palmoplantar keratoderma Aliases: Thost-Unna Syndrome Unna-Thost Syndrome diffuse nonepidermolytic palmomplantar keratoderma tylosis	ALOX12B CERS3 COG6 DOLK ENPP1 FKTN GMPPA KDSR PIGL PIGO PIK3CA PTEN SDHA SDHB SDHC SDHD SRD5A3	204219 2218 22845 242 2531 29926 5167 5290 5728 57511 6389 6390 6391 6392 79644 84720 9487	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12889	Miller Fisher syndrome Aliases: Fisher's syndrome Miller-Fisher variant of Guillain-Barre syndrome	CNTN1 CSGALNACT1 ENO2 FCGR3B GALE GLO1 HPRT1 ICAM1 ISYNA1 MBL2 MRC1 PLB1 PTGS1 PTGS2 SIGLEC7 SIGLEC9 SMPD2 SMPD3 ST6GALNAC4	1272 151056 2026 2215 2582 27036 27090 27180 2739 3251 3383 4153 4360 51477 55512 55790 5742 5743 6610	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11161	neonatal respiratory failure Aliases: respiratory failure of newborn	SFTPC	6440	Homo sapiens (human)	DisGeNET
DOID:0111532	osteoglophonic dysplasia Aliases: Fairbank-Keats syndrome OGD osteoglophonic dwarfism	CAT PIK3CA PIK3CB PIK3CD PIK3CG PTEN SPHK2	5290 5291 5293 5294 56848 5728 847	Homo sapiens (human)	DisGeNET
DOID:8543	Hodgkin's lymphoma, lymphocytic-histiocytic predominance Aliases: Hodgkin lymphoma, lymphocyte-rich Hodgkin lymphoma, lymphocytic-histiocytic predominance Hodgkin's disease, lymphocyte predominance Lymphocyte Rich Hodgkin's disease	ACE ACSBG1 ALG1 ALOX15 ALOX5 ANXA5 B3GAT1 CALR CD14 CD38 CD44 CDH13 CHI3L1 CLEC16A CYP2C9 CYP3A4 ENPP2 FCER2 FCGR3B FUT4 GAPDH GLO1 HABP4 HEXA HJV HPGDS HPSE ICAM1 ISYNA1 KDSR KL KLRK1 LGALS1 LGALS3 LGALS9 LIPC LPL LY6G6D LY75 MBL2 MICA MRC1 MUTYH NAAA NAMPT NCAM1 OGG1 OPCML PAFAH1B1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 RENBP SCD SDC1 SELL SIGLEC7 SIRT6 SMUG1 SOAT1 SPHK1 STS TM7SF2 UGT1A1	100507436 1012 10135 10855 1116 148738 1559 1576 1636 2208 2215 22914 22927 23205 23274 23583 240 246 2526 2531 2597 27036 27087 27163 27306 2739 3073 308 3383 3956 3958 3965 3990 4023 4065 412 4153 4360 4595 4684 4968 4978 5048 5091 51477 51548 5168 5290 5291 5293 5294 54658 56052 5728 5743 58530 5973 6319 6382 6402 6646 7108 811 8877 929 9365 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET

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