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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 **2651 - 2675** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:8566	herpes simplex Aliases: Herpesvirus hominis disease	AKR1B1 ASAH1 CAT CD38 CD44 CEACAM5 CLEC9A COMT CTSA CYP1A1 CYP2B6 ENPP1 FASN FCGR3B FUT3 GAD1 GAD2 GLB1 GUSB HPRT1 HS3ST1 HS3ST6 ICAM1 LGALS1 LGALS4 LGALS9 MBL2 MRC1 MTMR3 MTMR4 PARG PIK3CA PIK3CB PIK3CD PIK3CG PNP PTGS2 SFTPC SMPD1 SOAT1 STT3A SUCLA2 TNKS TREH UNG XYLT2	1048 11181 1312 1543 1555 2194 2215 231 2525 2571 2572 2720 283420 2990 3251 3383 3703 3956 3960 3965 4153 427 4360 4860 5167 5290 5291 5293 5294 5476 5743 64132 6440 64711 6609 6646 7374 847 8505 8658 8803 8897 9110 952 960 9957	Homo sapiens (human)
DOID:14695	galactokinase deficiency Aliases: Galactosemia II	AKR1B1 ALG9 CYP51A1 G6PD GALE GALK1 GALM GALT GK GP2 LGALS1 MGAT1 SLC2A2 UGP2 UGT8	130589 1595 231 2539 2582 2584 2592 2710 2813 3956 4245 6514 7360 7368 79796	Homo sapiens (human)
DOID:4977	lymphedema Aliases: Lymphatic edema Lymphoedema	AKR1B1 ALG8 GLA GUSB INPPL1 MPI NAGA NCAM1 PIK3CA PMM2 PTEN SLC35D1 SMUG1	231 23169 23583 2717 2990 3636 4351 4668 4684 5290 5373 5728 79053	Homo sapiens (human)
DOID:0080156	X-linked adrenal hypoplasia congenita Aliases: congenital adrenal hypoplasia	AKR1B1 ALDH3A2 CHAT CYP11A1 CYP11B1 GK ICAM1 IL1RAP IL1RAPL1	1103 11141 1583 1584 224 231 2710 3383 3556	Homo sapiens (human)
DOID:14448	46,XY sex reversal Aliases: 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY Swyer syndrome	AKR1B1 AKR1C2 AKR1C4 CAT CYP11A1 CYP11B1 CYP11B2 GPX2 HPSE LPIN1 PGD PLCB4 PLCE1 PTGS2	10855 1109 1583 1584 1585 1646 231 23175 2877 51196 5226 5332 5743 847	Homo sapiens (human)
DOID:11432	endometriosis of ovary Aliases: ovarian endometriosis	AKR1B1 AKR1C1 AKR1C2 AKR1C3 CD44 CD55 CPM CYP19A1 CYP1A1 CYP2B6 ENPP1 ENPP3 GPX3 HS3ST3B1 HSD17B1 HSD17B2 ICAM1 IL1R1 IMPA2 NT5E PLA2G2A PSMD10 PTEN PTGS2 SMPDL3A SRD5A1 SRD5A2 SUCLG2 SULF2 TYMP UST VCAM1 VCAN	10090 10924 1368 1462 1543 1555 1588 1604 1645 1646 1890 231 2878 3292 3294 3383 3554 3613 4907 5167 5169 5320 55959 5716 5728 5743 6715 6716 7412 8644 8801 960 9953	Homo sapiens (human)
DOID:6271	gastric cardia adenocarcinoma Aliases: adenocarcinoma of Cardia of stomach	AKR1A1 OGG1 PLCE1 PTGS2 SHMT1 SI	10327 4968 51196 5743 6470 6476	Homo sapiens (human)
DOID:13724	scurvy	AKR1A1 HPGDS RGN	10327 27306 9104	Homo sapiens (human)
DOID:11014	anorectal stricture Aliases: Stenosis of rectum and anus	AKR1A1 ENO2 FREM1 PIGV	10327 158326 2026 55650	Homo sapiens (human)
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	AKR1A1 ELOVL4 NYX PNPLA6 PPT1 RPE	10327 10908 5538 60506 6120 6785	Homo sapiens (human)
DOID:2272	vulvovaginal candidiasis Aliases: Candidal cervix Candidal vulvovaginitis Candidiasis of vulva and vagina Monilial vulvovaginitis	AKR1A1 CLEC7A GLA GM2A MBL2 PSAP	10327 2717 2760 4153 5660 64581	Homo sapiens (human)
DOID:14080	glucocorticoid-remediable aldosteronism Aliases: GRA GRS familial hyperaldosteronism type I glucocorticoid-suppressible hyperaldosteronism	AKR1A1 CAT CBR1 CYP11B1 CYP11B2 CYP2B6 GML GPX1 ISYNA1	10327 1555 1584 1585 2765 2876 51477 847 873	Homo sapiens (human)
DOID:5509	childhood ependymoma	AKR1A1 ASAH1 CALR CD44 IDH1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN	10327 3417 3897 427 5290 5291 5293 5294 5728 811 960	Homo sapiens (human)
DOID:5075	myxopapillary 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:5505	papillary 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:5504	tanycytic 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: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:5500	cellular 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:11994	atrophy of testis	AKR1A1 ALDH2 CHST3 HMMR HPRT1	10327 217 3161 3251 9469	Homo sapiens (human)
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)
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	AKR1A1 AKR1B10 AKR1C2 AMACR APRT B3GAT2 CALR CAT CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CHST11 CYP17A1 CYP19A1 CYP1A1 DAD1 FASN FH FUT4 GOLPH3 GPX1 GPX2 GPX3 GPX7 HAS2 HPGDS HPSE ICAM1 ICAM2 KLRC1 KLRK1 LGALS9 MCAT MICA MPG MTAP OGG1 PARP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G4A PLB1 PLCE1 PTEN PTGES PTGS1 PTGS2 SI SLC35A2 SMUG1 SOAT1 STS TYMP UGT2B17 UGT8 VCAM1	100507436 1012 10327 1048 10855 1087 135152 142 151056 1543 1586 1588 1603 1604 1646 1890 2194 2271 22914 23583 23600 2526 27306 27349 2876 2877 2878 2882 3037 3383 3384 353 3821 3965 412 4350 4507 4680 4968 50515 51196 5277 5290 5291 5293 5294 5319 5321 57016 5728 5742 5743 64083 6476 6646 7355 7367 7368 7412 811 847 9536 960	Homo sapiens (human)
DOID:0111670	primary hyperoxaluria type 1 Aliases: HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency	AGXT	189	Homo sapiens (human)
DOID:8454	riboflavin deficiency Aliases: ariboflavinosis vitamin B2 deficiency	AGXT	189	Homo sapiens (human)
DOID:4232	extraosseous Ewing sarcoma Aliases: extraosseous Ewing's sarcoma extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor extraskeletal Ewing sarcom	AGXT LCT	189 3938	Homo sapiens (human)
DOID:4985	extraosseous Ewings sarcoma-primitive neuroepithelial tumor Aliases: extraosseous Ewing's tumor extraosseous Ewing's tumour extraosseous Ewings sarcoma-primitive neuroepithelial tumour	AGXT LCT	189 3938	Homo sapiens (human)

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