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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 **6301 - 6325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:5078	ganglioglioma Aliases: CNS ganglioglioma adult ganglioglioma childhood ganglioglioma	FCN2 IDH1 IDH2 PIK3CA PIK3CD PIK3CG PTEN	2220 3417 3418 5290 5293 5294 5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:369	olfactory neuroblastoma Aliases: Asthesioneuroblastoma Esthesioneuroblastoma Esthesioneuroepithelioma Olfactory Esthesioneuroblastoma paranasal sinus Olfactory neuroblastoma	IDH2 SMUG1	23583 3418	Homo sapiens (human)	DisGeNET
DOID:4163	ganglioneuroblastoma	CD44 GAPDH LGALS3 NCAM1 SIGLEC7	2597 27036 3958 4684 960	Homo sapiens (human)	DisGeNET
DOID:3168	squamous cell neoplasm Aliases: Epidermoid cell tumor squamous cell tumor	ADH4 ADH5 ADH7 AKR1A1 CEACAM5 CEACAM7 CHPT1 CYP1B1 CYP2E1 CYP2J2 DHDDS ENO2 GPX1 HPGDS KLRK1 LTA4H LYPD5 MICA PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PTEN PTGS2	100507436 10327 1048 1087 127 128 131 1545 1571 1573 2026 22914 27306 284348 2876 4048 51196 5130 5290 5291 5293 5294 56994 5728 5743 79947	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	PIK3CA PIK3CD PIK3CG PTEN	5290 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:2997	Sertoli-Leydig cell tumor	HSD17B1 LGALS3	3292 3958	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:3193	peripheral nerve sheath neoplasm Aliases: neoplasm of the nerve Sheath nerve sheath tumour	ACHE PTEN SMUG1	23583 43 5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4697	perineurioma Aliases: soft tissue Perineurioma	ACHE PTEN SMUG1	23583 43 5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5151	plexiform neurofibroma	PTEN SMUG1	23583 5728	Homo sapiens (human)	DisGeNET
DOID:3512	neurofibrosarcoma Aliases: Neurosarcoma	CD38 CD44 CEACAM5 CHSY1 DCN G6PD HMMR IL1R1 LGALS1 NCAM1 PARP1 PARP2 PIK3CA PIK3CB PIK3CD PIK3CG PTEN RECK SMUG1 SOAT1	10038 1048 142 1634 22856 23583 2539 3161 3554 3956 4684 5290 5291 5293 5294 5728 6646 8434 952 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:8353	epithelioid malignant peripheral nerve sheath tumor Aliases: epithelioid MPNST malignant epithelioid neoplasm of the peripheral nerve Sheath	CD38 CD44 CEACAM5 CHSY1 DCN G6PD HMMR IL1R1 LGALS1 NCAM1 PARP1 PARP2 PIK3CA PIK3CB PIK3CD PIK3CG PTEN RECK SMUG1 SOAT1	10038 1048 142 1634 22856 23583 2539 3161 3554 3956 4684 5290 5291 5293 5294 5728 6646 8434 952 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080190	malignant epithelioid hemangioendothelioma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:4028	angioma serpiginosum Aliases: Angioma serpiginosum of skin	ACE ATP6AP2 ATP6V1A C1GALT1C1 MAG PIK3CA PIK3CB PIK3CD PIK3CG PTEN SRD5A3	10159 1636 29071 4099 523 5290 5291 5293 5294 5728 79644	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5241	hemangioblastoma Aliases: Capillary Hemangioblastoma	FH LGALS3 PTEN SDHB SMUG1	2271 23583 3958 5728 6390	Homo sapiens (human)	DisGeNET
DOID:0111359	large congenital melanocytic nevus Aliases: Congenital pigmented nevus GMN Giant congenital melanocytic nevus Giant pigmented hairy nevus LCMN	PTGDS	5730	Homo sapiens (human)	DisGeNET
DOID:2129	atypical teratoid rhabdoid tumor Aliases: Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour	ACACA CNTN2 GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	23583 2719 31 5290 5291 5293 5294 5743 6900	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	23583 2719 5290 5291 5293 5294 5743	Homo sapiens (human)	DisGeNET
DOID:169	neuroendocrine tumor Aliases: neuroendocrine neoplasm	ABO ACOT7 ACSS2 ALG9 APRT B3GAT1 CALR CD33 CD44 CEACAM5 CEACAM7 CHGA DAD1 ENO2 GFRA1 HPSE ISYNA1 MTAP MUTYH NAMPT NCAM1 NT5E NTNG1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLCB3 PTEN SDC1 SDHB SDHC SDHD SMUG1 SQLE TM7SF2 VCAN	10135 1048 10855 1087 1113 11332 142 1462 1603 2026 22854 23583 23659 2674 27087 28 353 4507 4595 4684 4907 5130 51477 5290 5291 5293 5294 5331 55902 5728 6382 6390 6391 6392 6713 7108 79796 811 945 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070323	childhood acute myeloid leukemia Aliases: childhood acute myeloid leukaemia paediatric acute myeloid leukaemia pediatric acute myeloid leukemia	CD33 CD38 CNTFR EBP HPGDS IDH1 IDH2 KLRK1 NCAM1 PAFAH1B1 PLCB4	10682 1271 22914 27306 3417 3418 4684 5048 5332 945 952	Homo sapiens (human)	DisGeNET
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	ALPI ALPP B3GAT1 CACNA2D1 CD44 HK2 HSPG2 ICAM1 IDH1 LIPG MBD4 MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB4 PTEN SDHD SULF2 TNFRSF10C TPI1	100507436 142 248 250 27087 3099 3339 3383 3417 5290 5291 5293 5294 5332 55959 5728 6392 7167 781 8794 8930 9388 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:8850	salivary gland cancer Aliases: malignant neoplasm of salivary gland	ACACB ISYNA1 LGALS3 MSLN PYGB ST3GAL4 VCAN	10232 1462 32 3958 51477 5834 6484	Homo sapiens (human)	DisGeNET
DOID:14669	acrodysostosis	APRT ENO1	2023 353	Homo sapiens (human)	DisGeNET
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	ACADM ACOT7 ACSS2 AGXT ALDH1A3 ALOX15 ALOX5 ALPP ANXA5 APRT ATRNL1 CAT CD14 CD44 CEACAM5 CEACAM7 CHI3L1 CHST14 CNTN3 CYP19A1 CYP1A2 CYP2B6 EFNA1 ENO1 FBP1 FCGR3B FIG4 FUT1 GGT1 GPC3 GPNMB HK2 ICAM1 IDH1 IDH2 KLRK1 LDHA LGALS1 LGALS3 MCAT MICA MRC1 MSLN MUTYH NEIL1 OGG1 OPCML PAFAH1B1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G15 PLA2G4A PLA2G7 PSMD10 PTEN PTGES PTGS2 RECK SCP2 SIRT2 SMUG1 SPHK1 STS TNFRSF10C UNG	100507436 10232 10457 1048 1087 1116 113189 11332 142 1544 1555 1588 189 1942 2023 220 2203 2215 22914 22933 23583 23659 240 246 250 2523 26033 2678 2719 27349 308 3099 3383 34 3417 3418 353 3939 3956 3958 412 4360 4595 4968 4978 5048 5067 5290 5291 5293 5294 5311 5315 5321 55902 5716 5728 5743 6342 7374 7941 79661 8434 847 8794 8877 929 9536 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	ATP1A2 GALE	2582 477	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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