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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 **6701 - 6725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia Aliases: IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia	GNE MASP1 TNF	10020 5648 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080379	nephrotic syndrome type 2 Aliases: steroid-resistant autosomal recessive nephrotic syndrome	ACE ANXA5 FCGR3B PLA2G7 PLCE1	1636 2215 308 51196 7941	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:14203	childhood type dermatomyositis Aliases: Juvenile dermatomyositis childhood Dermatomyositis	ACE ALOX5 CD44 CHI3L1 CHIT1 DAG1 HPRT1 ICAM1 IL1RAPL2 LGALS3 LGALS9 MBL2 MRC1 NCAM1 PKM PLCG2 PTGS1 PTGS2 SLC2A10 SMUG1 SOAT1 SRGN VCAM1	1116 1118 1605 1636 23583 240 26280 3251 3383 3958 3965 4153 4360 4684 5315 5336 5552 5742 5743 6646 7412 81031 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110533	autosomal recessive nonsyndromic deafness 88 Aliases: DFNB88 autosomal recessive deafness 88	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:0080132	Sengers syndrome Aliases: mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)	AGK CS	1431 55750	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8956	cowpox Aliases: yaba	ABO CYB5R3 FCN2 IL18R1	1727 2220 28 8809	Homo sapiens (human)	DisGeNET
DOID:1056	oculocerebrorenal syndrome Aliases: Lowe syndrome lowe oculocerebrorenal syndrome oculocerebrorenal syndrome of Lowe	ARSH G6PD HPRT1 INPP5A INPP5D INPP5E INPP5K MTM1 NAGLU OCRL PAFAH1B1 PTEN	2539 3251 347527 3632 3635 4534 4669 4952 5048 51763 56623 5728	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2797	idiopathic interstitial pneumonia Aliases: Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis	ACE ACO2 ALOX5 ALPI ALPP AMY2A ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GAT1 B3GAT3 CAT CD248 CD44 CD55 CEACAM5 CEACAM7 CEL CEMIP CHAT CHI3L1 CHIT1 CHST15 CTSA CYP27B1 CYP2C9 DCN DEGS1 ELOVL6 ENO1 ENPP2 FASN FCGR3B FOLR2 FUT8 GGT1 GLB1 HAS2 HK2 HPGDS HS6ST1 HS6ST2 ICAM1 IL18R1 IL1RL1 INPP5D KL KLRK1 L1CAM LCLAT1 LDHA LGALS1 LGALS3 LTA4H MICA MPG MRC1 NEU1 NEU3 NT5E OGG1 PARP1 PARP9 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G4A PLAUR PRKAA2 PTEN PTGS1 PTGS2 RECK SDC1 SDC2 SDC4 SELE SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SHMT2 SIRT6 SLC27A5 SLC2A10 SLC2A5 SMUG1 SOAT1 SPHK1 SPHK2 SULF1 SULF2 TM7SF2 VCAM1 VCAN	100507436 10159 1048 1056 10825 1087 10998 1103 1116 1118 142 1462 1559 1594 1604 1634 1636 2023 2194 2215 22914 23213 2350 23556 23583 240 248 250 2530 253558 26229 2678 27087 2720 27306 279 3037 308 3099 3383 353 3635 3897 3939 3956 3958 4048 410 427 4350 4360 4758 4907 4968 50 51363 51548 5168 5290 5291 5293 5294 5310 5311 5321 5329 5476 5563 55959 56848 57124 57214 5728 5742 5743 6382 6383 6385 6401 6440 6441 6472 6518 653509 6646 7108 729238 7412 79071 81031 83666 8434 847 8482 8560 8809 8877 8879 90161 9173 9365 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3159	photosensitivity disease Aliases: Photodermatitis	DHCR7 EPM2A FDPS KDSR PTGS2	1717 2224 2531 5743 7957	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3307	teratoma	ACAT1 ALPP DHCR24 ENO2 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PGM3 PSMD10 PTEN SMUG1 TYMP	1718 1890 2026 2331 23583 250 2523 2674 38 4199 4360 5236 5238 5716 5728	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4415	fibrous histiocytoma Aliases: Fibroxanthoma benign fibrous histiocytoma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:649	prion disease Aliases: Prion disease pathway Prion protein disease Spongiform Encephalopathy prion induced disorder transmissible spongiform encephalopathy	ACHE BST1 CD14 CD44 CHI3L1 GPI LGALS1 OGG1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PRNP PTGS2 SMUG1	1116 23583 2821 2923 3956 43 4968 5290 5291 5293 5294 5563 5621 5743 683 929 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060378	orofaciodigital syndrome VIII Aliases: OFD8	CD38 FUT1	2523 952	Homo sapiens (human)	DisGeNET
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	ALDOB KHK	229 3795	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	MACROD2	140733	Homo sapiens (human)	DisGeNET
DOID:0080543	hyperprolinemia type 2 Aliases: hyperprolinemia type II	ALDH7A1	501	Homo sapiens (human)	DisGeNET
DOID:192	sex cord-gonadal stromal tumor Aliases: Sex Cord-Stromal neoplasm Sex cord stromal tumour Specialized gonadal neoplasm Specialized gonadal tumor Specialized gonadal tumour sex cord-gonadal stromal tumour	CYP19A1 CYP2B6 LGALS3	1555 1588 3958	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3891	placental insufficiency	ABO ACACA ACADVL ACE ACSL4 ADH1B AGA AKR1A1 AKR1B1 ALDH2 ALDH3A1 ALG12 ALG13 ALG1 ALG8 ANXA5 ATP6V0A2 ATP6V1A B3GLCT BCKDHA CALR CAT CD74 CEL CHPT1 CNTN1 COG1 COG4 COG5 COG6 COG7 COMT CPT1A CPT2 CRYL1 CYB5R3 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP2E1 CYP7A1 DCN DHCR24 DHCR7 DLAT FCN2 FCN3 FIG4 FKTN FUT8 G6PC1 GALC GALK1 GAPDH GAS1 GBA1 GCK GK GLUL GPC1 GPC3 GPI GPX1 H6PD HADH HADHA HADHB HAS2 HK1 HSD11B2 HSD17B1 IGF2R IL1RAPL1 KL KLRB1 LDHC LFNG LGALS2 LGALS3 LIPG LPL MAG MASP1 MBL2 MPI MTM1 MYORG NGLY1 OGDH PCK1 PDHA1 PDHX PDX1 PFKFB2 PIGF PIGG PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLCG1 PLOD3 PNPLA6 POMT1 PPARGC1A PRKAA2 PRNP PRPS1 PTDSS1 PTEN PTGS2 SC5D SDC1 SDHA SDHB SDHD SIRT2 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMC3 STT3B TALDO1 TGDS UGDH UPP1 VCAM1 VTCN1 XYLT1	10327 10466 10559 1056 10585 10891 10908 11141 125 1272 1312 1374 1376 145173 1543 1571 1581 1583 1584 1586 1588 1634 1636 1717 1718 1727 1737 175 1836 201595 217 218 2182 2218 2220 22933 231 23483 23545 2530 2538 2581 25839 2584 2597 2619 2629 2645 2710 2719 2752 28 2817 2821 2876 3030 3032 3033 3037 308 3098 31 3291 3292 3482 3651 37 3820 3948 3955 3957 3958 4023 4099 4153 4351 4534 4967 5105 51084 5160 5208 523 5281 5286 5290 5291 5293 5294 5311 5335 54872 5563 55768 56052 5621 5631 5648 56994 5728 5743 57462 57511 593 6309 6382 6389 6390 6392 64131 6514 6515 6517 6888 7355 7358 7378 7412 79053 79087 79679 79868 8050 811 847 8547 8985 9126 91949 9197 9365 9382 9388 9563 972 9791 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110285	autosomal recessive limb-girdle muscular dystrophy type 2Q Aliases: LGMD2Q autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency muscular dystrophy, limb-girdle, type 2Q	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4873	anterior horn cell disease	ACHE APRT ASAH1 CAT CLEC10A DAG1 FCN2 FIG4 GAL3ST1 GFRA1 HEXB HK2 MTMR4 NT5E OGA PNPLA6 SARM1 SLC35A1 TIGAR TMED9	10462 10559 10724 10908 1605 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9110 9514 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4029	gastritis Aliases: Erosive Gastritis Erosive gastropathy acute gastric mucosal erosion	A4GNT ACE CAT CD177 CD44 CHIT1 CYP2C19 CYP2C9 FCER2 FCGR3B FUT2 FUT4 HPGDS ICAM1 IL18R1 LCT LGALS1 LYZ MDH2 NT5E PLCE1 PTGDS PTGS1 PTGS2 SELE SELL SIGLEC8 SIRT2 SMUG1 TNF UGT1A6 VTCN1	1118 1557 1559 1636 2208 2215 22933 23583 2524 2526 27181 27306 3383 3938 3956 4069 4191 4907 51146 51196 54578 57126 5730 5742 5743 6401 6402 7124 79679 847 8809 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0090059	enhanced S-cone syndrome	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:0080038	pycnodysostosis	NT5E	4907	Homo sapiens (human)	DisGeNET
DOID:10579	leukodystrophy	ABAT ACER3 ACOT12 ACOX1 ARSA ATRN DAG1 DEGS1 ECHS1 GALC GBE1 HSD17B4 MAG PC PDHA1 PLA2G1B PLA2G6 PLB1 PSAP SDHA SDHB SLC17A5 SORD TYMP	134526 151056 1605 18 1890 1892 2581 2632 26503 3295 4099 410 5091 51 5160 5319 55331 5660 6389 6390 6652 8398 8455 8560	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4697	perineurioma Aliases: soft tissue Perineurioma	ACHE PTEN SMUG1	23583 43 5728	Homo sapiens (human)	DisGeNET DisGeNET

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