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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 **3801 - 3825** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:0090053	episodic kinesigenic dyskinesia 1 Aliases: Paroxysmal kinesigenic choreoathetosis	ACE APRT COMT GAL3ST1 INPP5E PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKD1 PKD1L3 PKD2 PKLR PTEN SELE SLC35A1	10559 1312 1636 342372 353 5130 5290 5291 5293 5294 5310 5311 5313 56623 5728 6401 8394 9514	Homo sapiens (human)
DOID:0090054	episodic kinesigenic dyskinesia 2	COMT	1312	Homo sapiens (human)
DOID:7926	epithelial malignant thymoma Aliases: Squamoid Thymoma Thymoma, epithelial Well differentiated thymic carcinoma	LY75	4065	Homo sapiens (human)
DOID:5264	epithelioid leiomyosarcoma	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
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)
DOID:6193	epithelioid sarcoma Aliases: epithelioid cell sarcoma	ACAN ACSL4 ACSS2 ANXA5 ARSF B3GAT1 CD109 CD14 CD1D CD248 CD44 CEL CHSY1 CMAS COL9A2 CSPG4 DCN DHCR24 ENPP2 EXTL3 FBP2 FCGR3B GLUL GPC3 GPC5 HK2 HPRT1 HPSE IDH1 IDH2 ISYNA1 KLRK1 LGALS1 LSS MRC1 MTAP NANS NCAM1 OGA OS9 PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLAUR PLD2 PTEN PTGS2 SDHA SDHB SDHC SELP SIRT2 SLC27A5 SMUG1 STS TM7SF2 UGT1A1	1056 10724 10855 10956 10998 1298 135228 142 1464 1634 1718 176 2137 2182 2215 2262 22856 22914 22933 23583 23659 27087 2719 2752 308 3099 3251 3417 3418 3956 4047 412 416 4360 4507 4684 51477 5168 5290 5291 5293 5294 5329 5338 54187 54658 55902 55907 57124 5728 5743 6389 6390 6391 6403 7108 83666 8789 912 929 960	Homo sapiens (human)
DOID:11330	erysipelas	CAT	847	Homo sapiens (human)
DOID:0060567	erythema elevatum diutinum	CYP19A1	1588	Homo sapiens (human)
DOID:8743	erythema infectiosum Aliases: Fifth disease	ABO CYB5R3 FCN2 IL18R1	1727 2220 28 8809	Homo sapiens (human)
DOID:0050185	erythema multiforme	ACADS ACSS2 CYP2C19 FOLR1 FOLR2 HSPG2 MASP2 PLA2G15	10747 1557 2348 2350 23659 3339 35 55902	Homo sapiens (human)
DOID:0080750	erythema nodosum	TNF	7124	Homo sapiens (human)
DOID:0080750	erythema nodosum	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:0080750	erythema nodosum	Tnf	21926	Mus musculus (house mouse)
DOID:4131	erythrasma Aliases: Infection due to Corynebacterium minutissimum	CAT	847	Homo sapiens (human)
DOID:0111195	erythrokeratodermia variabilis et progressiva 1	ELOVL4 KDSR	2531 6785	Homo sapiens (human)
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)
DOID:0050467	erythrokeratodermia variabilis Aliases: Erythrokeratodermia Figurata Variabilis Greither Disease	ELOVL4 KDSR	2531 6785	Homo sapiens (human)
DOID:9240	erythromelalgia Aliases: erythermalgia	GLA PGP PTGS1	2717 283871 5742	Homo sapiens (human)
DOID:13270	erythropoietic protoporphyria Aliases: EPP Protoporphyria	CEL FUT1 PARP9 SLC27A5 SUCLA2	1056 10998 2523 83666 8803	Homo sapiens (human)
DOID:2839	erythropoietin polycythemia Aliases: Nephrogenous polycythemia Polycythaemia due to Excess Erythropoetin Production Polycythemia due to excess erythopoetin production Polycythemia, nephrogenous secondary polycythemia with excess erythropoietin	ACO1 BPGM CD177 CYB5R3 FH FUT1 G6PD HPRT1 PKLR SMUG1	1727 2271 23583 2523 2539 3251 48 5313 57126 669	Homo sapiens (human)
DOID:10485	esophageal atresia Aliases: Congenital atresia of esophagus Congenital imperforate esophagus Imperforate esophagus Oesophageal atresia	CEACAM5 CEACAM7 PTEN	1048 1087 5728	Homo sapiens (human)
DOID:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	CEACAM5 CEACAM7	1048 1087	Homo sapiens (human)
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	Akt1 Pik3ca	170911 24185	Rattus norvegicus (Norway rat)
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	ABO ACACA ACE ACSS2 ADH1B ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1C3 AKT1 ALDH2 ALOX15B ANXA7 ARSA B3GAT1 BDH2 C1GALT1 CALR CD38 CDH13 CEACAM5 CEACAM7 CHGA CHST15 CNTN1 COG8 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2C19 CYP2C9 CYP2E1 CYP3A5 DAG1 DCN DEGS1 DGKH DHCR24 ENO1 FASN G6PD GAPDH GML GOLPH3 GPX3 HPGDS HPRT1 HPSE HSPG2 ICAM1 ICAM2 IL18R1 LGALS3 LGALS9 LY6K MAN2C1 MRC1 MTAP NANP NANS NEIL1 OGG1 PARP1 PARP2 PCYT1A PDHA1 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G2A PLCE1 PLOD3 PNP PRKAA2 PSMD10 PTEN PTGES3 PTGES PTGS1 PTGS2 RECK RPN2 SDHA SDHB SDHC SHMT2 SIGLEC1 SIRT6 SLC35A2 SMUG1 SOAT1 ST6GAL1 ST6GAL2 ST8SIA4 TM7SF2 TUSC3 UGT1A1 UGT1A8 UGT2B4 UMOD UMPS UNG VTCN1	10038 1012 10327 1048 10728 10855 1087 1113 125 126 127 1272 131 140838 142 1543 1545 1557 1559 1571 1577 1588 1591 1605 160851 1634 1636 1718 2023 207 217 2194 23583 23659 247 2539 2597 27087 27306 2765 28 2878 31 310 3251 3339 3383 3384 3958 3965 410 4123 4360 4507 4860 4968 51196 5130 51363 51548 5160 5226 5230 5290 5291 5293 5294 5315 5320 54187 54576 54658 54742 5563 55902 56898 56913 57016 5716 5728 5742 5743 6185 6389 6390 6391 64083 6472 6480 6614 6646 7108 7355 7363 7369 7372 7374 7903 79661 79679 7991 811 8434 84342 84620 8560 8644 8809 8985 952 9536	Homo sapiens (human)

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