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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 **1426 - 1450** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:4853	pilocytic astrocytoma of cerebellum Aliases: Cerebellar Pilocytic astrocytoma	IDH1	3417	Homo sapiens (human)
DOID:4852	pleomorphic xanthoastrocytoma Aliases: Pleomorphic Xantho-astrocytoma	Braf	109880	Mus musculus (house mouse)
DOID:4852	pleomorphic xanthoastrocytoma Aliases: Pleomorphic Xantho-astrocytoma	BRAF IDH1 IDH2 MOGS	3417 3418 673 7841	Homo sapiens (human)
DOID:4851	pilocytic astrocytoma Aliases: Piloid astrocytoma grade I Astrocytic tumor	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:4847	cauda equina neoplasm Aliases: tumor of the Cauda Equina	ACHE	43	Homo sapiens (human)
DOID:4844	benign ependymoma Aliases: WHO grade II Ependymal tumor epithelial ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)
DOID:4840	sebaceous carcinoma Aliases: Malignant Sebaceous Neoplasm malignant Sebaceous tumor malignant neoplasm of sebaceous gland	ACSL5 CAT CD44 CD74 CEACAM5 COLEC10 CYP19A1 CYP1B1 FASN GPC3 HAS1 HSD17B7 KLRK1 LGALS1 LYPD5 MICA NEU1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SCD SDC1 SMUG1 UMPS	100507436 1048 10584 1545 1588 2194 22914 23583 2719 283871 284348 3036 3956 4758 51478 51703 5290 5291 5293 5294 5728 5743 6319 6382 7372 847 960 972	Homo sapiens (human)
DOID:484	vascular hemostatic disease	ABO	28	Homo sapiens (human)
DOID:4839	sebaceous adenocarcinoma Aliases: Sebaceous carcinoma adenocarcinoma of the Sebaceous gland	CD44 MUTYH PIK3CA PTEN	4595 5290 5728 960	Homo sapiens (human)
DOID:4838	myoepithelial carcinoma	SMUG1	23583	Homo sapiens (human)
DOID:4837	Gorham's disease Aliases: Disappearing bone disease Gorham disease essential osteolysis massive osteolysis phantom bone disease	APRT CYP7A1 G6PC1 GBE1 GYG1 GYS2 MGAM PYGL PYGM SI SLC37A4 SMUG1	1581 23583 2538 2542 2632 2992 2998 353 5836 5837 6476 8972	Homo sapiens (human)
DOID:4830	adenosquamous carcinoma Aliases: Adenosquamous cell carcinoma mixed adenocarcinoma and squamous carcinoma	CALR CLEC10A MGLL PGK1 PIK3CA PTEN SIGLEC7	10462 11343 27036 5230 5290 5728 811	Homo sapiens (human)
DOID:483	cavernous hemangioma Aliases: Cavernoma Cavernous haemangioma	ACE ATP6AP2 ATP6V1A C1GALT1C1 CALR CD14 CTSA CYP1B1 DPM1 GAS1 GNPTAB GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 MAG MTM1 MTMR14 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHC SDHD SRD5A3	10082 10159 10908 1545 1636 2619 29071 3294 3417 3418 3482 4099 4534 523 5281 5290 5291 5293 5294 5310 5476 57104 5728 6391 6392 64419 79158 79644 811 8809 8813 929	Homo sapiens (human)
DOID:4829	adenosquamous lung carcinoma	PIK3CA PTEN	5290 5728	Homo sapiens (human)
DOID:4817	ganglioneuroma	CD44 CS LGALS3 NCAM1 PTEN SDHC SIGLEC7	1431 27036 3958 4684 5728 6391 960	Homo sapiens (human)
DOID:4810	cerebrotendinous xanthomatosis Aliases: Cholestanol storage disease	B4GALNT2 CYP27A1 CYP27B1 CYP2B6 CYP3A4 HSD11B1 HSD11B2 PTGDS	124872 1555 1576 1593 1594 3290 3291 5730	Homo sapiens (human)
DOID:480	movement disease	ACHE ACO2 ALDH5A1 ALDH7A1 CYB5R3 CYP1A2 CYP21A2 DHCR7 FOLR2 G6PD GBA1 GCDH GLUL HEXA HPRT1 MAN2B1 NGLY1 NTNG1 OGDH PAFAH1B1 PDHA1 PGAP3 PIGN PLB1 PMM2 PPT1 PRNP PSAP PTEN SGSH SLC26A2 SLC2A3 SUCLA2	151056 1544 1589 1717 1727 1836 22854 2350 23556 2539 2629 2639 2752 3073 3251 4125 43 4967 50 501 5048 5160 5373 5538 55768 5621 5660 5728 6448 6515 7915 8803 93210	Homo sapiens (human)
DOID:4798	aggressive systemic mastocytosis Aliases: ASM Lymphadenopathic mastocytosis with eosinophilia	CALR CAT CD33 CD38 CEL CYP24A1 ETNK1 FCER2 FH SMPD1	1056 1591 2208 2271 55500 6609 811 847 945 952	Homo sapiens (human)
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	GM2A HEXA HEXB OGA	10724 2760 3073 3074	Homo sapiens (human)
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	Gm2a	14667	Mus musculus (house mouse)
DOID:4794	obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)
DOID:4791	supratentorial primitive neuroectodermal tumor Aliases: Supratentorial PNET	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)
DOID:4790	medulloepithelioma Aliases: Diktyoma, malignant Medulloepithelioma, central nervous system	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)
DOID:479	angiokeratoma Aliases: Angiokeratoma of skin Cutaneous Angiokeratoma skin angiokeratoma	DCN FUCA1 GLA IDH1 IDH2 MANBA NAGA PTEN SMUG1	1634 23583 2517 2717 3417 3418 4126 4668 5728	Homo sapiens (human)
DOID:479	angiokeratoma Aliases: Angiokeratoma of skin Cutaneous Angiokeratoma skin angiokeratoma	Naga	315165	Rattus norvegicus (Norway rat)

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