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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 **5851 - 5875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:5411	lung oat cell carcinoma Aliases: oat cell carcinoma	CBR1 CD44 CEACAM5 CHGA CYP1A1 CYP2E1 ENO2 LGALS3 MRC1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 STS UGT1A1	1048 1113 1543 1571 2026 23583 3958 412 4360 4684 5290 5291 5293 5294 54658 5728 873 960	Homo sapiens (human)	DisGeNET
DOID:7147	ankylosing spondylitis Aliases: Bekhterev syndrome Bekhterev's disease Marie-Strumpell disease	ACE ADIPOQ ALPL ALPP ARSA ATRNL1 CAT CD14 CD38 CD74 CLEC16A CYP1A1 CYP1B1 CYP24A1 CYP2C9 CYP3A5 DAG1 DLAT DPEP1 ENPP1 FCGR3B FUT2 GAL3ST2 IL18R1 IL1R1 LGALS3 LSS MBL2 MICA NT5E PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGIS PTGS2 SCD5 SELP SFTPA2 SGSH SIGLEC7 SOAT1 ST8SIA4 SULT1E1 TLR4 UGT2B17 UST	100507436 10090 1543 1545 1559 1577 1591 1605 1636 1737 1800 2215 23274 249 250 2524 26033 27036 3554 3958 4047 410 4153 4907 5167 5290 5291 5293 5294 5728 5740 5743 6403 64090 6448 6646 6783 7099 729238 7367 7903 79966 847 8809 929 9370 952 972	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:580	uric acid nephrolithiasis Aliases: acute urate nephropathy	AGPAT2 AGXT ALPL ALPP APRT ATRNL1 CAT CD14 CD44 CLC CTNS CYP24A1 CYP27A1 CYP3A5 DGKD DGKH ENO1 G6PC1 GPX1 GRHPR HAO1 HPGDS HPRT1 HSPG2 ITPKC KL NTNG1 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCD1 PRPS1 PTGS2 SI SLC37A4 SLC3A1 UGT1A1 UMOD	10555 1178 1497 1577 1591 1593 160851 189 2023 22854 249 250 2538 2542 26033 27306 2876 3251 3339 353 4952 5290 5291 5293 5294 5310 5333 54363 54658 5631 5743 6476 6519 7369 80271 847 8527 929 9365 9380 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050674	congenital bile acid synthesis defect Aliases: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBA cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency	AKR1D1 AMACR CYP7A1 CYP7B1 HSD3B7	1581 23600 6718 80270 9420	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	ACACA ACE ACOT7 ACSBG1 ALDH3A2 ALOX5 ANXA5 BST2 CAT CD14 CD1D CD22 CD248 CD44 CD72 CEL CHI3L1 CHST8 CYP1A1 CYP21A2 CYP2B6 CYP2C9 DCN DGKQ DLAT ENPP2 FCGR3B FCN2 FCN3 FOLR2 GLB1 GPI GPX3 HPGDS HPRT1 HSPG2 ICAM1 ICAM2 IL1R1 IL1RAP KL KLRB1 LGALS3 LGALS9 MBD4 MRC1 OXCT1 PARP1 PARP9 PGM1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLD3 PLD4 PTEN PTGS2 RBP4 SDC1 SDC2 SDHC SELE SELL SFTPD SIGLEC1 SLC27A5 SLC33A1 SMUG1 SOAT1 ST3GAL1 ST6GAL1 SULT1E1 TM7SF2 TPI1 VCAM1 XYLT2	1056 10998 1116 11332 122618 142 1543 1555 1559 1589 1609 1634 1636 1737 2215 2220 224 23205 2350 23583 23646 240 2720 27306 2821 2878 308 31 3251 3339 3383 3384 3554 3556 3820 3958 3965 4360 5019 5168 5236 5287 5290 5291 5293 5294 5329 57124 5728 5743 5950 6382 6383 6391 6401 6402 64132 64377 6441 6480 6482 6614 6646 6783 684 7108 7167 7412 83666 847 8547 8930 912 9197 929 933 9365 960 971	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:750	peptic ulcer disease Aliases: acute peptic ulcer with hemorrhage acute peptic ulcer with hemorrhage and perforation acute peptic ulcer without hemorrhage and without perforation	A4GNT ABO ACE CD14 CYP1A1 CYP1A2 CYP2C19 CYP2C8 CYP2C9 CYP2E1 FUT4 GGT1 LDHA PTGS1 PTGS2 SI	1543 1544 1557 1558 1559 1571 1636 2526 2678 28 3939 51146 5742 5743 6476 929	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110272	cataract 40 Aliases: CTRCT40 cataract 40 X-linked cataract 40 with or without microcornea	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS MMUT OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4594 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080031	fibrous dysplasia	APRT B3GAT1 PTGS2 SMUG1	23583 27087 353 5743	Homo sapiens (human)	DisGeNET
DOID:0070136	autosomal dominant cutis laxa 2 Aliases: ADCL2	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	ACE ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD HJV	145173 148738 1636 1946 2026 2539 427 43	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3650	lactic acidosis	ACADM ACADVL ACAT1 AGK AGXT ALDH6A1 ALDH7A1 ALDOB AMT BCKDHA BCKDHB CHAT CYP11A1 CYP11B2 CYP27B1 DBT DLAT DLD ECHS1 FBP1 FH G6PC1 GALT GCDH GLYCTK HADH HADHA HADHB HIBCH HMGCL HSD3B2 ICAM1 LCT MCEE MLYCD OGDH PC PCCA PCCB PCK1 PDHA1 PDHB PDHX PTGS1 PYGL SDHA SLC2A2 SLC37A4 SLC3A1 SLC5A1 SUCLA2 SUCLG1	1103 132158 1583 1585 1594 1629 1737 1738 189 1892 2203 2271 229 23417 2538 2542 2592 26275 2639 275 3030 3032 3033 3155 3284 3383 34 37 38 3938 4329 4967 501 5091 5095 5096 5105 5160 5162 55750 5742 5836 593 594 6389 6514 6519 6523 8050 84693 8802 8803	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110257	cataract 24 Aliases: CTRCT24	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)	DisGeNET
DOID:0070086	schizophrenia 10 Aliases: SCZD10	ALPL CERK	249 64781	Homo sapiens (human)	DisGeNET
DOID:14550	root resorption	PTGS1 PTGS2 TNF	5742 5743 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
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)	DisGeNET DisGeNET
DOID:1799	islet cell tumor Aliases: Islet cell neoplasm endocrine pancreas cancer islet cell tumour malignant pancreatic Endocrine tumor malignant pancreatic Endocrine tumour malignant tumor of endocrine pancreas malignant tumour of endocrine pancreas pancreatic Endocrine neoplasm	ABO ACSS2 ADH1C ALDH1A3 ALOX15 ALPP ANXA5 B3GNT6 BAAT CALR CBR1 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHGA CHPT1 CLC CNTN1 CYP3A4 DHCR24 DHDDS DLD ENPP7 FUT4 GALNT12 GLB1 GUSB HPGDS ICAM1 KLRK1 LCT LGALS4 MICA MRC1 MUTYH NTHL1 OGG1 PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 PYGM RPE RPIA SDHA SDHB SLC2A2 SLC2A3 SMPD1 SMUG1 SOAT1 TNKS UGT1A3	100507436 1012 1048 1087 1113 1178 126 1272 142 151056 1576 1604 1718 1738 192134 220 22914 22934 23583 23659 246 250 2526 2720 27306 28 2990 308 3383 339221 3938 3960 4360 4595 4913 4968 5048 5130 5290 5291 5293 5294 5311 5319 5320 5321 5336 54659 5563 55902 56994 570 5716 5728 5742 5743 5837 6120 6389 6390 6514 6515 6609 6646 7941 79695 79947 811 8398 8399 8658 873 9536 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3356	localized osteosarcoma Aliases: localised Osteogenic sarcoma localised osteosarcoma localized Osteogenic sarcoma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:349	systemic mastocytosis Aliases: SMCD - systemic mast cell disease systemic tissue mast cell disease	CALR CD33 CD38 CEL ETNK1 FCER2 FH SMPD1	1056 2208 2271 55500 6609 811 945 952	Homo sapiens (human)	DisGeNET
DOID:0060677	catecholaminergic polymorphic ventricular tachycardia 3 Aliases: CVPT3	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)	DisGeNET
DOID:0110138	Bardet-Biedl syndrome 16 Aliases: BBS16	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	PRNP	5621	Homo sapiens (human)	DisGeNET
DOID:0111633	congenital sucrase-isomaltase deficiency Aliases: CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance	SI	6476	Homo sapiens (human)	Alliance of Genome Resources
DOID:2485	phosphorus metabolism disease Aliases: Phosphorus disorder disorder of phosphorus metabolism phosphorus metabolism disorder	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0090037	torsion dystonia 13	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	APRT CAT CYP19A1 CYP2B6 PTEN SDHC UGT1A1	1555 1588 353 54658 5728 6391 847	Homo sapiens (human)	DisGeNET

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