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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 **5576 - 5600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0080440	developmental and epileptic encephalopathy 3 Aliases: early infantile epileptic encephalopathy 3	AMT PIGA	275 5277	Homo sapiens (human)
DOID:8463	corneal ulcer	AMT LGALS3 NGLY1 PTGS2 SFTPA1 SFTPA2 SFTPD TNF	275 3958 55768 5743 6441 653509 7124 729238	Homo sapiens (human)
DOID:120	female reproductive organ cancer Aliases: female reproductive cancer malignant Gynecologic tumor malignant neoplasm of female genital organ	AMT HPGDS MRC1 PIK3CA UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	27306 275 4360 5290 54575 54576 54577 54578 54657 54658	Homo sapiens (human)
DOID:1171	hyperlipoproteinemia type V Aliases: Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia	AMT DGAT1 GPIHBP1 LCAT LPL PNPLA2	275 338328 3931 4023 57104 8694	Homo sapiens (human)
DOID:14118	familial lipoprotein lipase deficiency Aliases: Fredrickson type I hyperlipoproteinemia Fredrickson type I lipaemia familial LPL deficiency familial hyperlipoproteinemia type I hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia	AMT DGAT1 GBE1 GPIHBP1 LCAT LPL PNPLA2	2632 275 338328 3931 4023 57104 8694	Homo sapiens (human)
DOID:0060732	chromosome 9p deletion syndrome Aliases: 9p syndrome Alfi syndrome monosomy 9p syndrome	AMT CYP11A1 FREM1 GLDC PAFAH1B1 PRNP	1583 158326 2731 275 5048 5621	Homo sapiens (human)
DOID:12259	hemophilia B Aliases: Congenital factor IX deficiency Congenital factor IX disorder deficiency, functional factor IX factor IX deficiency	AMT CD38 DCXR EBP G6PD GAD1 SACM1L SMUG1	10682 22908 23583 2539 2571 275 51181 952	Homo sapiens (human)
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT B3GAT1 GCSH GLDC GLYCTK MGAT1 UGCG	132158 2653 27087 2731 275 4245 7357	Homo sapiens (human)
DOID:529	blepharospasm	AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS DLAT EPM2A GBA1 GCDH GCSH GLDC GLYCTK HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1	10715 1203 132158 151056 1557 1593 1737 22901 23236 23556 26275 2629 2639 2653 2731 27315 275 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6389 6392 6487 6900 7957 79947 8398 84342 84720 84992 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:3535	Unverricht-Lundborg syndrome Aliases: Unverricht - Lundborg disease Unverricht's disease Unverricht-Lundborg disease	AMT ARSA ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS EPM2A GBA1 GCSH GLDC GLYCTK HEXB HIBCH HMGCL INPP4A ISYNA1 MECR NAGA NEU1 NGLY1 PFKL PGAP2 PGAP3 PIGA PIGL PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1 TMED9	10715 1203 132158 1557 1593 23236 26275 2629 2653 2731 27315 275 284098 3074 3155 3631 410 427 4668 4758 51102 51227 51477 5211 523 5277 5286 54732 5538 55624 55650 55768 5621 5660 6309 6389 6392 6487 6900 7957 79947 8398 84342 84720 84992 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:2301	atrophy of prostate	AMACR	23600	Homo sapiens (human)
DOID:3025	acinar cell carcinoma Aliases: acinic cell carcinoma	AMACR LYZ NT5E PIK3CA PTEN	23600 4069 4907 5290 5728	Homo sapiens (human)
DOID:0111068	congenital bile acid synthesis defect 4 Aliases: CBAS4 intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid trihydroxycoprostanic acid in bile	AMACR HSD17B4	23600 3295	Homo sapiens (human)
DOID:0060602	alpha-methylacyl-CoA racemase deficiency Aliases: AMACR deficiency	AMACR HSD17B4	23600 3295	Homo sapiens (human)
DOID:683	motor neuritis Aliases: peripheral motor neuropathy	AMACR GLO1 PTEN SCP2 SMUG1	23583 23600 2739 5728 6342	Homo sapiens (human)
DOID:1803	neuritis Aliases: peripheral neuritis	AMACR GLO1 PTEN SCP2 SMUG1	23583 23600 2739 5728 6342	Homo sapiens (human)
DOID:2602	chondroma Aliases: central Chondroma	AMACR EXT1 IDH1 IDH2 PIGA PIK3CA PIK3CB PIK3CD PIK3CG SDHB SMUG1	2131 23583 23600 3417 3418 5277 5290 5291 5293 5294 6390	Homo sapiens (human)
DOID:6245	renal oncocytoma Aliases: Oncocytoma of kidney renal epithelial Oncocytic tumor	AMACR CD44 HMMR HYAL4 LDHA PIK3CA PRSS8 PTGS2 SDC1 SLC2A2 SLC2A4	23553 23600 3161 3939 5290 5652 5743 6382 6514 6517 960	Homo sapiens (human)
DOID:5389	oxyphilic adenoma Aliases: Follicular adenoma, oxyphilic cell Oncocytoma	AMACR CD44 FH HMMR HYAL4 LDHA NCAM1 PGK1 PRSS8 PTEN PTGS1 PTGS2 SDHA SDHB SLC2A2 SLC2A4 SMUG1 VCAM1	2271 23553 23583 23600 3161 3939 4684 5230 5652 5728 5742 5743 6389 6390 6514 6517 7412 960	Homo sapiens (human)
DOID:6873	skin tag Aliases: Fibroepithelial polyp Fibroepithelial polyp of skin cutaneous tag soft fibroma	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:2065	syringoma	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:3178	skin papilloma Aliases: cutaneous papilloma papilloma of skin	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS TLR2 VCAN	10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 7097 8398 8434 960	Homo sapiens (human)
DOID:4418	cutaneous fibrous histiocytoma Aliases: Pleomorphic fibroma Sclerosing angioma Sclerosing angioma of skin benign Cutaneous fibrous Histiocytoma dermatofibroma fibrohistiocytic tumor fibrous histiocytoma of skin fibrous xanthoma of skin	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 KLRK1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 SMUG1 STS VCAN	10855 142 1462 1591 22914 23583 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:3896	hidradenoma Aliases: Hidradenoma of skin Sweat gland adenoma Syringoadenoma	AMACR CD44 CEACAM5 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	1048 10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:627	severe combined immunodeficiency Aliases: SCID combined T and B cell inborn immunodeficiency	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)

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