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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 **2601 - 2625** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:14042	bipolar I disorder	CACNA2D2 FADS1 FADS2 MACROD2 NCAN PARP10	140733 1463 3992 84875 9254 9415	Homo sapiens (human)
DOID:3907	lung squamous cell carcinoma Aliases: Epidermoid cell carcinoma of the lung	AKR1C2 CACNA2D3 CBR1 CD109 CD44 CEACAM5 CEACAM7 CYP1A1 CYP1A2 CYP1B1 CYP2E1 ENO1 FUT1 GPC3 GPX1 GPX2 GPX6 HJV HK2 HPGDS HYAL3 IDH1 IDH2 IGF2R INPP4B KL LDHA LGALS1 LGALS8 LIPA MASP1 ME1 NCAM1 OGG1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PLPP4 PTEN PTGS2 SLC2A2 SQLE	1048 1087 135228 142 148738 1543 1544 1545 1571 1646 196051 2023 2523 257202 2719 27306 2876 2877 3099 3417 3418 3482 3939 3956 3964 3988 4199 4684 4968 5091 5290 5291 5293 5294 55799 5648 5728 5743 6514 6713 8372 873 8821 9365 960	Homo sapiens (human)
DOID:0110404	retinitis pigmentosa 17 Aliases: RP17	CA4	762	Homo sapiens (human)
DOID:0060674	catecholaminergic polymorphic ventricular tachycardia	ACADVL ACE CALR CHPT1 CNTN3 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD THEM5	1636 2523 284486 2992 37 5067 56994 5743 6319 64083 79147 811	Homo sapiens (human)
DOID:0060171	obsolete Dravet syndrome	ALDH7A1 EPM2A	501 7957	Homo sapiens (human)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)
DOID:3016	breast malignant phyllodes tumor Aliases: Phyllodes breast neoplasm Phyllodes tumor, malignant breast malignant phyllodes tumour malignant Mammary Phyllodes tumor malignant Mammary Phyllodes tumour malignant Phyllodes neoplasm malignant cystosarcoma phyllodes malignant phyllodes tumor malignant phyllodes tumor of breast malignant phyllodes tumour malignant phyllodes tumour of breast phyllodes breast tumor phyllodes breast tumour	DCN FASN INPP4B PIK3CA PIK3CB PIK3CD PIK3CG SDHA SDHB VTCN1	1634 2194 5290 5291 5293 5294 6389 6390 79679 8821	Homo sapiens (human)
DOID:12119	hemosiderosis Aliases: haemosiderosis	ACSM3	6296	Homo sapiens (human)
DOID:0060180	colitis	ACAT1 ACE ACSBG1 ADIPOQ ADRB3 ALOX12 ALOX15 ALOX5 ALPL ANXA5 ARSA ASAH1 B4GALT7 CALR CAT CD14 CD177 CD1D CD44 CD55 CEACAM5 CEACAM6 CERK CERS2 CERS6 CH25H CHGA CHI3L1 CHST15 CHST4 CLEC7A CNTN3 CPT1B CRLS1 CSPG4 CTSA CYP27B1 CYP7B1 EFNA5 ENPP2 FDPS FUT2 FUT3 G6PC3 GALM GPIHBP1 GPX1 GPX2 GUSB HACD1 HPGDS HPRT1 HYAL2 ICAM1 IDH2 IL18R1 IL1R1 IL1RAP IL1RL2 INPP5D ISYNA1 KL LAYN LCT LGALS1 LGALS2 LGALS3 LPIN1 LYZ MBL2 MRC1 NAMPT NT5E OGA PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCG1 PLD1 PLD2 PPARGC1A PRKAA2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG3G RGN SDC1 SDC2 SDC4 SELL SELP SFTPD SGMS2 SGPL1 SGPP1 SGPP2 SI SIGLEC1 SIGLEC8 SIRT6 SLC33A1 SMPD1 SMUG1 SPHK1 ST8SIA2 STS TFF1 TLR4 TM7SF2 VCAM1 VNN1 VTCN1	10135 10164 1048 10724 10891 1113 1116 11285 130120 130367 130589 1375 142 143903 1464 151056 155 1594 1604 1636 166929 1946 2224 23175 23205 23583 239 240 246 249 2524 2525 253782 27181 27306 2876 2877 2990 29956 308 3251 3383 338328 3418 3554 3556 3635 38 3938 3956 3957 3958 4069 410 412 4153 427 4360 4680 4907 5067 5091 51363 51477 51548 5168 5290 5291 5293 5294 5315 5319 5320 5321 5335 5337 5338 54675 5476 5563 5652 5660 57126 5716 5728 5730 5742 5743 6382 6383 6385 6402 6403 6441 64581 6476 64781 6609 6614 7031 7099 7108 7412 79679 811 8128 81537 8398 8399 847 8692 8808 8809 8876 8877 8879 9023 9104 912 9197 9200 92579 929 9365 9370 9420 9536 960	Homo sapiens (human)
DOID:4554	type C thymoma Aliases: Thymoma, type C	CD74 HACD1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGES2 PTGES PTGS2 SMUG1	23583 5290 5291 5293 5294 5728 5743 80142 9200 9536 972	Homo sapiens (human)
DOID:13911	achromatopsia Aliases: ACHM Monochromatism	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)
DOID:0050459	hyperphosphatemia	ADH1B CYP11B2 CYP24A1 CYP27B1 GALNT3 KL PGAP2 PIK3C2A SHMT1 SMPD3	125 1585 1591 1594 2591 27315 5286 55512 6470 9365	Homo sapiens (human)
DOID:3275	thymoma	CAT CD44 CD74 CLEC14A G6PD GAPDH GPX1 HACD1 HSD17B7 ICAM1 LY75 MICA MSLN PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGES2 PTGES PTGS2 SMUG1 SULT1E1	100507436 10232 142 161198 23583 2539 2597 2876 3383 4065 51478 5290 5291 5293 5294 5716 5728 5743 6783 80142 847 9200 9536 960 972	Homo sapiens (human)
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	COQ2	27235	Homo sapiens (human)
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	ABAT ABO ACACA ACADSB ACAT1 ACE ACO1 ACSM1 ACSM3 ACSS2 ADH1B ADRB3 AGPS AGXT AKR1A1 AKR1B1 AKR1C3 AKR1C4 AKT1 AKT2 ALDH2 ALDH7A1 ALOX12 ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 APRT ARSA ARSB ARSD ATP1A2 ATP6AP2 ATP6V0A2 B3GAT1 BAAT BAD BST1 CACNA2D1 CALR CAT CD14 CD38 CD44 CDH13 CERS5 CHGA CHI3L1 CHPT1 CHST12 CHST3 CLC CLEC16A CNTN3 CNTN4 CNTN5 COL9A2 COMT CTSA CYB5R3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP4A22 CYP4F2 CYP4F3 CYP4F8 CYP7A1 DAG1 DCN DEGS1 DLD DPAGT1 DPEP1 EBP ENO1 ENO2 ENO3 ENPP1 EPHX2 EXT2 FADS1 FASN FCN3 FIG4 G6PC1 G6PD GAD2 GAL3ST1 GALNT2 GBA1 GCK GGT1 GLA GLCE GLO1 GML GNPDA2 GOLPH3 GPC3 GPI GPX1 GPX3 GSK3B HJV HK2 HMGCS2 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSD3B1 HSD3B2 HSPG2 HTR2A ICAM1 IDH2 IDUA IL18RAP IL1R1 IL1RL1 IL6ST IMPA1 INPPL1 INS ISYNA1 KCNJ11 KCNQ1 KL LCT LDHA LEP LEPR LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPCAT3 LPIN1 LPL LSS LYZ MACROD2 MBL2 MCAT MLYCD MPI MSLN NAMPT NPL NPY1R OGA OGG1 OLR1 PARP1 PC PCYT1A PFKFB3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G15 PLA2G4A PLA2G5 PLA2G7 PLCB3 PLCD1 PLCE1 PLCG1 PLD2 PMM2 PPARA PRKAA2 PRNP PRSS8 PTEN PTGDS PTGES2 PTGES PTGIS PTGS1 PTGS2 RBP4 REG3G RENBP RGN SACM1L SCD SDC1 SDHB SDHC SELE SELL SELP SEMA7A SFTPC SHMT1 SIRT2 SIRT6 SLC17A5 SLC2A10 SLC2A1 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35F3 SLC37A4 SLC39A8 SLC3A1 SLC5A1 SLC5A2 SMUG1 SORD SPHK1 SPHK2 SRGN ST3GAL4 ST8SIA4 STS SULF2 SULT1E1 TBXAS1 TM7SF2 TNF UCP2 UGCG UGT1A1 UMOD VCAM1 VNN1 XYLT1 XYLT2	1012 10135 10159 10162 10232 10327 10559 10682 10724 10855 1109 1113 1116 11283 116285 1178 120227 125 1298 130120 1312 132789 140733 142 148641 148738 152330 1543 1544 1545 155 1555 1557 1558 1559 1573 1576 1577 1579 1581 1583 1584 1585 1586 1588 1589 1591 1594 1605 1634 1636 1727 1738 1798 18 1800 189 2023 2026 2027 2053 207 208 2132 217 2194 22908 22933 231 23175 23274 23417 23545 23583 23600 23659 239 240 247 2538 2539 2542 2572 2590 26035 2629 2645 26503 2678 27087 2717 2719 27306 27349 2739 276 2765 277 278 28 2821 283871 284541 2876 2878 2932 308 3099 31 3158 3283 3284 3290 3291 3295 3339 3356 3383 3418 3425 353 3554 3572 36 3612 3630 3636 3767 3784 38 3938 3939 3952 3953 3956 3957 3958 3988 3990 3992 4023 4047 4051 4069 410 411 412 414 4153 4351 477 48 4886 4968 4973 501 5067 5091 51196 5130 51477 51548 5167 5209 5290 5291 5293 5294 5310 5311 5315 5321 5322 5331 5333 5335 5338 5373 53942 5465 54658 5476 55501 5552 5563 55902 55959 5621 5652 56848 56994 570 572 5728 5730 5740 5742 5743 5950 5973 60495 6296 6319 6382 6390 6391 6401 6402 6403 64083 64116 64131 64132 6440 6470 6484 6513 6514 6515 6517 6518 6519 6523 6524 6652 6783 683 6916 7108 7124 7351 7357 7369 7412 781 7903 7941 80142 80896 81031 811 847 8482 8529 8540 8547 8560 8644 8807 8876 8877 91012 9104 9173 9197 929 9365 9388 9469 9514 952 9536 960 9896	Homo sapiens (human)
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	ACSS2 CBR1 PTGS2	55902 5743 873	Homo sapiens (human)
DOID:4927	Klatskin's tumor Aliases: Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma	ARSA HK1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC2 SMUG1	23583 3098 3958 410 5290 5291 5293 5294 5315 6383	Homo sapiens (human)
DOID:0111141	delayed sleep phase syndrome Aliases: DSPD	CRY1	1407	Homo sapiens (human)
DOID:0110575	autosomal dominant nonsyndromic deafness 5 Aliases: DFNA5 autosomal dominant deafness 5	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0060287	cornea plana Aliases: flat cornea	B3GALNT2 B3GLCT B4GAT1 CHST14 CRPPA CYP1B1 DAG1 DCN EBP FKRP FKTN HSPG2 LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SC5D SMC3	10329 10585 10682 11041 113189 145173 148789 1545 1605 1634 2218 29954 3339 55624 6309 729920 79147 84197 84892 9126 9215	Homo sapiens (human)
DOID:0060490	Schimke immuno-osseous dysplasia Aliases: Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome	AKR1B10 CHPT1 GM2A HEXB	2760 3074 56994 57016	Homo sapiens (human)
DOID:11771	spontaneous ocular nystagmus Aliases: Ocular nystagmus Searching eye movements visual deprivation nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA1 GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 2629 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9215 9254 93589 9394 94005 9420 9526	Homo sapiens (human)
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	PER2	8864	Homo sapiens (human)
DOID:0070324	systemic Epstein-Barr virus positive T-cell lymphoma of childhood Aliases: EBV-positive T-cell lymphoproliferative disorder of childhood systemic EBV-positive T-cell lymphoma of childhood	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:0080011	bone resorption disease	CYP19A1	1588	Homo sapiens (human)

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