GlyCosmos Portal

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Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4101 - 4125** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	KHK	3795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	Khk	16548	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9840	esotropia Aliases: Convergence in manifest squint Internal Strabismus crossed eyes	AGRN ALG9 B3GAT3 CHAT CHST3 CYB5R3 DDOST GBA1 GMPPB PGAP2 PGAP3 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PMM2 SLC35A2	1103 1650 1727 23556 26229 2629 27315 284098 29925 375790 51604 5373 55650 7355 79796 84720 84992 93210 9469 9487	Homo sapiens (human)	DisGeNET
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	IDP2 IDP3	850871 855723	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	Axn Calr	41166 43565	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	Akt1 Idh2 Kat2b Mbd4 Trp53	11651 17193 18519 22059 269951	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	Akt1 Idh2 Tp53	24185 24842 361596	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	ABO ACACA ACADL ACOT7 ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH7 AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKT1 ALDH2 ALDH7A1 ALG3 ALOX12 ALOX15 ALOX5 ANXA5 APRT BAAT BST2 C1GALT1 CACNA2D3 CALR CD14 CD44 CDH13 CEACAM5 CEACAM7 CHI3L1 CHKA CHPT1 CHST15 CNTN1 COMT CPT1A CYP11A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 DCTD DGKA DHDDS DHDH EFNA1 FASN FUT4 G6PD GALNT14 GALNT7 GAPDH GBE1 GCNT2 GLO1 GOLPH3 GPC1 GPD2 GPX3 HAS3 HK2 HMGCS2 HPGDS HPSE ICAM1 IDH1 IDH2 KAT2B KLRK1 L1CAM LDHA LDHB LGALS9 LY6K LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MICA MRC1 MTAP MUTYH NEIL1 NT5E OGG1 OPCML PARG PARP1 PARP4 PDHA1 PFKFB3 PGD PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G2A PLA2G4A PLCD1 PLCE1 PRSS8 PTEN PTGES2 PTGES PTGS1 PTGS2 RECK RPN2 SDC2 SHMT1 SHMT2 SIGLEC7 SIRT4 SLC27A5 SMUG1 SOAT1 SPHK1 SQLE SRGN ST6GALNAC1 TIGAR TKTL1 TP53 TPI1 TUSC3 TYMP UGT1A1 UGT1A8 UGT2B17 UGT2B4 UMPS UNG UPP1 VTCN1	100507436 1012 10195 10327 1048 10747 10855 1087 10998 1116 1119 11332 124 125 126 127 1272 128 131 1312 1374 142 143 1543 1544 1545 1555 1557 1559 1571 1576 1577 1583 1591 1606 1635 1645 1646 1890 1942 207 217 2194 22914 23409 23583 239 240 246 2526 2539 2597 2632 2651 27036 27294 27306 27349 2739 28 2817 2820 284348 2878 3038 308 3099 31 3158 33 3383 3417 3418 353 3897 3939 3945 3965 4153 4360 4507 4595 4907 4968 4978 501 51196 51363 5160 51809 5209 5226 5287 5290 5291 5293 5294 5315 5320 5321 5333 54576 54658 54742 5552 55750 55799 55808 55902 5648 5652 56913 56994 570 57016 57103 5728 5742 5743 6185 6383 64083 6470 6472 6646 6713 684 7157 7167 7363 7367 7372 7374 7378 79623 79661 79679 7991 79947 80142 811 8277 8434 8505 8850 8877 8930 929 9536 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	akt1.S	399170	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:7134	esophagus small cell carcinoma Aliases: Oat cell carcinoma of esophagus Oat cell carcinoma of oesophagus oesophagus small cell carcinoma	PARP1 PTEN	142 5728	Homo sapiens (human)	DisGeNET
DOID:4914	esophagus adenocarcinoma Aliases: Oesophageal adenocarcinoma	AKR1A1 AKR1B10 AKR1C2 AMACR APRT CALR CD55 CDH13 CEACAM5 CEACAM7 CYP19A1 CYP1A1 CYP24A1 FASN GHRL GPX3 GPX7 HPGDS ICAM1 LGALS9 MCAT MPG MTAP PARP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G4A PLB1 PLCE1 PTEN PTGES PTGS1 PTGS2 SLC35A2 SMUG1 STS TYMP UGT2B17 UGT8	1012 10327 1048 1087 142 151056 1543 1588 1591 1604 1646 1890 2194 23583 23600 27306 27349 2878 2882 3383 353 3965 412 4350 4507 51196 51738 5277 5290 5291 5293 5294 5319 5321 57016 5728 5742 5743 7355 7367 7368 811 9536	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:11963	esophagitis Aliases: acute esophagitis	Tnf	21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11963	esophagitis Aliases: acute esophagitis	Tnf	24835	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11963	esophagitis Aliases: acute esophagitis	ABAT ACE AGRN ALPP ARSA ATP6V1A ATRNL1 CALR CHAT COG7 COMT CYP2C19 DDOST DEGS1 ECI1 EXT2 FCSK FUT3 GNE HPGDS IL18R1 IL1R1 MCEE NT5E NTM NTNG1 OCRL PGM3 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PLCE1 PRKCSH PTGES PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPC SLC2A10 SLC35A2 SMC3 SYNJ1 TNF	10020 1103 1312 151056 1557 1632 1636 1650 18 197258 2132 22854 23556 250 2525 26033 27306 3554 375790 410 4907 4952 50863 51196 523 5238 5277 5290 5291 5293 5294 5589 5742 5743 6440 653509 7124 729238 7355 81031 811 84693 8560 8809 8867 9126 91949 9536	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:6050	esophageal disease Aliases: esophageal Ulcer	ACSS2 AGA CAT CD44 CEACAM5 CEACAM7 CYP2C9 DHRS11 HPGDS HSD17B7 IL18RAP OGG1 PLA2G15 PLA2G4A PTEN PTGS2	1048 1087 1559 175 23659 27306 4968 51478 5321 55902 5728 5743 79154 847 8807 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:1107	esophageal carcinoma Aliases: cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus	ABO ACACA ACE ACSS2 ADH1B ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1C3 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 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 217 2194 23583 23659 247 2539 2597 27087 27306 2765 28 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)	DisGeNET DisGeNET DisGeNET
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)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
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)	Alliance of Genome Resources
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	11651 18706	Mus musculus (house mouse)	Alliance of Genome Resources
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)	Alliance of Genome Resources
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)	DisGeNET
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)	DisGeNET
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)	DisGeNET DisGeNET DisGeNET
DOID:13270	erythropoietic protoporphyria Aliases: EPP Protoporphyria	CEL FUT1 PARP9 SLC27A5 SUCLA2	1056 10998 2523 83666 8803	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9240	erythromelalgia Aliases: erythermalgia	GLA PGP PTGS1	2717 283871 5742	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET

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