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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 **5101 - 5125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:3702	cervical adenocarcinoma Aliases: adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of the uterine Cervix	ACE ADH1C AKR1B10 AKR1C3 ALPI ALPP ANXA5 APRT B3GNT3 B4GALT3 CACNA2D2 CALR CAT CD38 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CLEC10A COMT CYP19A1 CYP1A1 CYP1B1 CYP2E1 CYP4F3 DCN DHCR24 EFNA2 FBP1 G6PD GALNT7 GCNT2 GLB1 GPC3 GPNMB GPX2 GPX3 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 ICAM1 IGF2R IL18R1 IL1R1 IL1RAP INPP4B ITPKC KL KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MGLL MICA MMUT MPG MRC1 MSLN NT5E OGG1 OPCML PARP1 PARP2 PC PDIA3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLPP1 PRKAA2 PRSS21 PTEN PTGS1 PTGS2 RECK RGN SDC1 SDHA SDHD SIRT2 SMUG1 SOAT1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC5 STS STT3A TFF1 TKT TKTL1 TM7SF2 TNFRSF10C TP53 UGCG VTCN1 XPNPEP2	10038 100507436 1012 10232 10331 10457 10462 1048 10747 10855 1087 10942 1116 11343 126 1312 142 1543 1545 1571 1588 1604 1634 1636 1718 1943 2203 22914 22933 23583 248 250 2539 2651 2719 2720 27306 27349 284348 2877 2878 2923 308 3099 3161 3383 3482 353 3554 3556 3703 3897 3939 3956 3958 3965 3988 4051 412 4153 4350 4360 4594 4907 4968 4978 5091 51809 5226 5290 5291 5293 5294 5315 5321 5563 5648 57016 5728 5742 5743 60495 6382 6389 6392 6480 6484 6487 6646 7031 7086 7108 7157 7357 7512 79679 80271 811 81849 8277 8434 847 8611 8644 8703 8794 8809 8821 8930 9104 9254 9365 952 960 9956	Homo sapiens (human)
DOID:0060412	chromosome 1q41-q42 deletion syndrome Aliases: 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:9837	hypertropia	ACO2 ACOX1 ACSL4 ADPRS AGK ALDH5A1 ALDH7A1 ALG11 ALG3 ALG6 ATP6V0A2 ATP6V1A B3GALNT2 CACNA2D2 CACNA2D4 CHAT CHST14 COG5 COLEC11 COMT CYB5R3 CYP1B1 DDOST DHCR24 ECHS1 ELOVL4 EOGT EXT2 FCSK FKRP FKTN GALC GAS1 GFPT1 GK GMPPB HIBCH HSD17B4 INPP5E INPP5K L1CAM L2HGDH LARGE1 MDH2 MPDU1 NAGA NGLY1 NSDHL NYX OCRL PDHA1 PIGL PIGP PIGQ PIGT PIGY PLA2G6 PMM2 PNPLA6 POMGNT1 POMK POMT1 POMT2 PTEN RFT1 SDHA SGPL1 SLC2A10 SLC35A2 SLC39A8 SMC3 SUCLA2	10195 10466 10585 10908 1103 113189 1312 148789 1545 1650 1718 1727 1892 197258 2132 2182 2218 23545 2581 2619 26275 2673 2710 285203 29925 29929 29954 3295 3897 4191 440138 4668 4952 50 501 50814 51 51227 5160 51604 51763 523 5373 54936 55624 55750 55768 56623 5728 60506 6389 64116 6785 7355 78989 79147 7915 79944 81031 8398 84197 84992 8803 8879 9091 9126 91869 9215 9254 93589 9487 9526	Homo sapiens (human)
DOID:0070161	hereditary sensory and autonomic neuropathy type 2 Aliases: HSAN2 hereditary sensory and autonomic neuropathy type II	ACE ARSA CANX CD44 DGAT2 FIG4 GBA1 HADHB HK1 LCAT MAG MTM1 MTMR2 PGK1 PGM1 PRPS1 SIGLEC7 SPTLC1 SPTLC2	10558 1636 2629 27036 3032 3098 3931 4099 410 4534 5230 5236 5631 821 84649 8898 9517 960 9896	Homo sapiens (human)
DOID:10780	primary polycythemia Aliases: Familiar Polycythemia familial erythrocytosis	ACE CD177 FCER2 PKLR SLC17A5	1636 2208 26503 5313 57126	Homo sapiens (human)
DOID:0060405	chromosome 17q23.1-q23.2 deletion syndrome Aliases: 17q23.1-q23.2 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:9487	Meckel's diverticulum Aliases: Meckel Diverticulum Persistent vitelline duct	ACSL4 ALG13 GPC3 IL1RAPL1	11141 2182 2719 79868	Homo sapiens (human)
DOID:0110474	autosomal recessive nonsyndromic deafness 18B Aliases: DFNB18B autosomal recessive deafness 18B	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:399	tuberculosis	ACACA ACE ACOT7 ACSBG2 ADH4 AGA AKR1B1 ALDH2 ALDH5A1 ALOX12 ALOX15 ALOX5 ALPI ALPP AMACR ANXA5 APRT ARSA ARSB ART1 ATP6AP1 B3GAT1 BAAT BST1 CALR CAT CBR4 CD14 CD209 CD38 CD44 CD48 CD55 CEL CFC1 CHIT1 CLEC4E CLEC6A CLEC7A CLEC9A CMAS COLEC11 CYP1A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP4F3 CYP51A1 CYP7A1 DLD DPAGT1 EHHADH ENO1 ENO2 EXTL3 FASN FCGR3B FCN2 FCN3 FUT2 GALE GALNS GAPDH GCNT2 GK GLA GLO1 GLUL GUSB HACD1 HPGDS HPRT1 HPSE HSD17B6 HSD17B8 HSPG2 ICAM1 IL18R1 IL1R1 KLRB1 KLRK1 LDHC LGALS3 LGALS9 LTA4H LY75 LYZ MASP1 MASP2 MBL2 MICA MLYCD MMUT MPG MRC1 NCAM1 NDUFAB1 NT5E NTM OXSM PARP9 PC PFKM PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLAUR PNP PRKAA2 PTGS2 RBKS RENBP SDC1 SDHD SELL SFTPA1 SFTPA2 SFTPD SIGLEC1 SIRT2 SIRT6 SLC17A5 SLC27A5 SLC2A3 SLC39A8 SMPD1 SMPD2 SMUG1 STS SUCLA2 TLR1 TLR2 TLR6 TMED9 TNF TPI1 UGT1A1 UGT2B7 UMOD UMPS UPP1 VTCN1	100507436 10333 1056 10747 10855 10998 1118 11332 120227 127 1543 1555 1557 1559 1571 1576 1577 1581 1594 1595 1604 1636 1738 175 1798 1962 2023 2026 2137 217 2194 2215 2220 22914 22933 231 23417 23583 23600 239 240 246 248 250 2524 2582 2588 2597 26253 26503 2651 27087 2710 2717 27306 2739 2752 283420 2990 308 30835 31 3251 3339 3383 353 3554 3820 3948 3958 3965 4048 4051 4065 4069 410 411 412 4153 417 4350 4360 4594 4684 4706 4860 4907 50863 5091 51548 5213 5236 5290 5291 5293 5294 5320 5329 537 54658 54732 54995 5563 55907 55997 5648 570 5743 5973 6382 6392 6402 64080 64116 6441 64581 6515 653509 6609 6610 6614 683 7096 7097 7124 7167 729238 7364 7369 7372 7378 78989 7915 7923 79679 811 81616 83666 8399 847 84869 8547 8630 8803 8809 9200 929 93978 952 960 962	Homo sapiens (human)
DOID:0111168	sepiapterin reductase deficiency Aliases: DRD due to SRD SPR deficiency SRD dopa-responsive dystonia due to sepiapterin reductase deficiency	CHI3L1 MCEE	1116 84693	Homo sapiens (human)
DOID:3347	osteosarcoma Aliases: Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma	ACLY ACYP2 AGPAT2 AKR1A1 AKR1C1 ALDH1B1 ALDOA ALOX5 ALPI ALPL ALPP ANXA5 APRT ATRNL1 BPHL CALR CANX CAT CBR3 CD109 CD14 CD248 CD38 CD44 CD74 CEACAM6 CHI3L1 CHPT1 CHST2 CLEC5A CNTN2 COL9A2 COLGALT1 COLGALT2 CSPG4 CYP19A1 CYP27B1 CYP2B6 CYP3A4 DCN DDOST DGKZ DHDDS DPEP1 EFNA1 EXT1 EXT2 FADS1 FASN FBP1 FCN2 FDPS FOLR1 FOLR2 FUT3 GAPDH GAS1 GFRA1 GLDC GLUL GPI GPNMB HACD1 HAS2 HAS3 HK2 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IDH1 IDH2 IGF2R IL18R1 IL1R1 INPP4B KLRK1 L1CAM LDHA LGALS1 LGALS3 LPL LSS LYPD5 MCAT MELTF MGLL MICA MMUT MTAP NANS NEU1 OLR1 PAFAH1B1 PARG PARP1 PCK2 PCYT1A PFKFB2 PFKFB3 PGAM1 PGAP2 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G4A PLAAT3 PLAUR PLCG1 PLCG2 PLD1 PNPLA2 PRKAA2 PRNP PSMD10 PTEN PTGES3 PTGS2 RECK RENBP SDC1 SDC2 SDC4 SDHA SDHC SGMS2 SIRT6 SLC2A4 SMC3 SMPD2 SMUG1 SOAT1 SPHK1 SPHK2 STS SULT1E1 TNKS2 TNKS TP53 TUSC3 ULBP1 ULBP2 VCAM1 VCAN VNN2 VTCN1	100507436 10327 10457 10555 10728 10855 11145 1116 11343 1298 135228 142 1462 1464 1555 1576 1588 1594 1634 1645 1650 166929 1800 1942 2131 2132 219 2194 2203 2220 2224 226 22914 23127 2348 2350 23583 23601 240 248 249 250 2525 2597 26033 2619 2674 27306 2731 27315 27349 2752 2821 284348 3037 3038 308 3099 3290 3291 3383 3417 3418 3482 353 3554 3897 3939 3956 3958 3992 4023 4047 412 4241 4507 4594 4680 47 4758 4973 5048 5106 5130 51548 5208 5209 5223 5281 5290 5291 5293 5294 5310 5315 5321 5329 5335 5336 5337 54187 5563 5621 56848 56994 57104 57124 5716 5728 5743 5973 6382 6383 6385 6389 6391 6517 6610 6646 670 6783 6900 7157 7412 79679 79709 7991 79947 80328 80329 80351 811 821 8434 847 8505 8525 8658 874 8809 8821 8875 8877 9126 9200 929 9435 952 960 972 98	Homo sapiens (human)
DOID:178	vascular disease Aliases: vascular tissue disease	ABO ACE ACSL1 ADH1B ADIPOQ AKR1B1 ALDH2 CAT CD38 CHI3L1 CYP19A1 CYP2C9 CYP4F2 DCN DDOST DLAT DLD ENO2 FCGR3B FCN2 FOLR2 G6PD GLA GLO1 GPI HPSE ICAM1 ISYNA1 KL LGALS3 LIPC LIPG LPCAT3 LPL MBL2 NAMPT OLR1 PAFAH1B1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2G7 PLB1 PNP PRKAA2 PTEN PTGS2 RENBP SELE SELL SLC2A10 SLC2A4 SMUG1 SOAT1 SPHK2 TM7SF2 VCAM1 VCAN	10135 10162 10855 1116 125 1462 151056 1559 1588 1634 1636 1650 1737 1738 2026 217 2180 2215 2220 231 2350 23583 2539 2717 2739 28 2821 3383 3958 3990 4023 4153 4860 4973 5048 51477 5290 5291 5293 5294 5320 5563 56848 5728 5743 5973 6401 6402 6517 6646 7108 7412 7941 81031 847 8529 9365 9370 9388 952	Homo sapiens (human)
DOID:0110425	dilated cardiomyopathy 1A Aliases: CDCD1 dilated cardiomyopathy with conduction defect 1 familial dilated cardiomyopathy with conduction defect due to LMNA mutation	ABO ACACA ACE ALDH7A1 ATP6AP2 BDH1 CAT CHI3L1 CPT1A CPT2 CYP11B2 CYP19A1 CYP1A2 CYP2E1 DAG1 DBT DOLK ECI1 ENO1 FASN FKRP FKTN FUT3 GBE1 GPX1 GPX3 HPRT1 HSD17B2 IDH1 IL18R1 IL1RL1 KL LGALS3 LY75 MBL2 MDH1 MGAM MGAT1 MMUT MPI MRC1 NAMPT NCAM1 PCCA PCCB PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PLB1 PNPLA2 PRG2 PRKAA2 PTEN PTGS2 RENBP SCD SDC1 SDC4 SDHA SDHB SLC2A4 SLC35B2 SLC5A1 SMUG1 SRGN ST3GAL4 SULF2 SULT1E1 TM7SF2 UGT8 VTCN1	10135 10159 1116 1374 1376 151056 1544 1571 1585 1588 1605 1629 1632 1636 2023 2194 2218 22845 23583 2525 2632 28 2876 2878 31 3251 3294 3417 347734 3958 4065 4153 4190 4245 4351 4360 4594 4684 501 5095 5096 5236 5290 5291 5293 5294 5552 5553 5563 55959 57104 5728 5743 5973 622 6319 6382 6385 6389 6390 6484 6517 6523 6783 7108 7368 79147 7941 79679 847 8809 8972 9173 9365	Homo sapiens (human)
DOID:0112223	developmental and epileptic encephalopathy 89 Aliases: DEE89 early infantile epileptic encephalopathy 89	GAD1	2571	Homo sapiens (human)
DOID:13461	urethral intrinsic sphincter deficiency Aliases: Intrinsic (urethral) sphincter deficiency [ISD]	ACOT7	11332	Homo sapiens (human)
DOID:2723	dermatitis Aliases: eczema skin inflammation	ABO ACADVL ACE ACHE AGXT AKR1C3 ALDH3A2 ALDH7A1 ALOX12B ALOX15 ALOX5 APRT ARSH ASGR1 CALR CAT CD109 CD14 CD44 CD48 CD55 CD74 CERS3 CERS4 CHGA CHI3L1 CHST3 CLEC10A CLEC16A CLEC7A COL9A2 CYP24A1 CYP27A1 CYP27B1 CYP2R1 DHCR7 ELOVL1 ELOVL3 ELOVL6 ENO1 FADS1 FADS2 FAR1 FAR2 FCER2 FDFT1 FUT2 FUT7 GLB1 GLUL HAS3 HPGDS HPSE HSD11B1 ICAM1 ICAM5 IL18R1 IL1R1 IL1RL1 IL1RL2 INPP5D ITLN1 LCLAT1 LGALS1 LGALS3 LGALS9 LPIN2 MBL2 MGLL MRC1 NAAA NPL OGA PARP1 PCCA PCCB PGD PGM3 PIGX PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2E PLA2G4A PLA2G4D PLA2G7 PLAUR PLB1 PLCB3 PLD3 POFUT1 PTGDS PTGS2 SDC1 SELE SELP SIGLEC7 SLC17A5 SLC2A2 SLC35D1 SLC35G1 SLC39A8 SOAT1 SRD5A3 STS TMTC2 TNF TPI1 UGT1A9 VCAM1	10462 10724 10855 1113 1116 11343 120227 1298 135228 142 151056 1591 1593 159371 1594 160335 1604 1636 1717 189 2023 204219 2208 2222 224 23169 23274 23509 23646 240 242 246 2524 2529 253558 26503 27036 27163 2720 27306 2752 28 283748 3038 30814 3290 3383 347527 353 3554 3635 37 3956 3958 3965 3992 412 4153 43 432 4360 501 5095 5096 5226 5238 5290 5291 5293 5294 5319 5321 5329 5331 54600 54965 55600 55711 5730 5743 6382 6401 6403 64116 64581 64834 6514 6646 7087 7124 7167 7412 79071 7941 79603 79644 80896 811 83401 84188 847 8644 8808 8809 9173 929 9415 9469 960 962 9663 972	Homo sapiens (human)
DOID:0080721	calvarial doughnut lesions with bone fragility	SGMS2	166929	Homo sapiens (human)
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	PER2	8864	Homo sapiens (human)
DOID:2581	chondrodysplasia punctata Aliases: Chondrodysplasia punctata congenita	AGPS ARSB ARSH B3GALT6 COL9A2 DHCR24 EBP EXTL3 FDFT1 GNPAT GUSB MSMO1 NEU1 NSDHL SLC26A2 STS SUMF1 TMEM165 XYLT1	10682 126792 1298 1718 1836 2137 2222 285362 2990 347527 411 412 4758 50814 55858 6307 64131 8443 8540	Homo sapiens (human)
DOID:5890	malignant adult ependymoma	PTEN	5728	Homo sapiens (human)
DOID:4896	bile duct adenocarcinoma	ACE AKR1A1 AKR1B10 ALDH1A3 ALDOA ALOX15 ALOX5 ANXA4 ANXA5 APRT CAT CBR1 CD14 CD44 CEACAM5 CEACAM6 CEACAM7 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 DLAT ENO1 ENPP1 ENPP3 FBP1 FCGR3B FUT1 FUT2 FUT3 GALNS GGT1 GLUL GPC1 GPC3 HK2 HPSE IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 MGAT5 MRC1 MSLN MUTYH NCAM1 NEIL1 NEU1 NT5E OGG1 OPCML PARP1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G4A PSMD10 PTEN PTGES PTGS2 RECK SDC1 SIRT2 SMUG1 SPHK1 SPHK2 STS UGT1A10 UMPS VTCN1	10232 10327 1048 10855 1087 142 1543 1544 1588 1591 1594 1636 1737 2023 220 2203 2215 226 22914 22933 23583 240 246 2523 2524 2525 2588 2678 2719 2752 2817 307 308 3099 3417 3418 3482 353 3897 3939 3956 3958 3965 412 4249 4360 4595 4680 4684 4758 4907 4968 4978 5160 5167 5169 5290 5291 5293 5294 5311 5315 5321 54575 56848 57016 5716 5728 5743 6382 7372 79661 79679 8434 847 873 8877 929 9536 960	Homo sapiens (human)
DOID:3852	Peutz-Jeghers syndrome Aliases: Colonic hamartomatous polyp Peutz Jeghers colon polyp Peutz Jeghers polyp Peutz-Jeghers polyp of small Intestine gastric Peutz-Jeghers polyp peutz-jeghers small bowel hamartoma	ACHE APRT CHGA CYP19A1 CYP1B1 CYP2B6 IDH2 KLRD1 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PRKAA2 PTEN PTGS2 PYGM SDHB SDHC SDHD SLC2A3 SMUG1 SORD TUSC3	10908 1113 1545 1555 1588 23583 3418 353 3824 43 4595 5290 5291 5293 5294 5563 5728 5743 5837 6390 6391 6392 6515 6652 7991	Homo sapiens (human)
DOID:4661	multiple chemical sensitivity Aliases: 20th century disease chemical AIDS environmental illness idiopathic environmental illness total allergy syndrome	CYP2C19	1557	Homo sapiens (human)
DOID:8689	anorexia nervosa	ACACA AMY1A AMY1B AMY1C CD38 CNTN4 CNTN5 CNTN6 COMT CSGALNACT1 CYP17A1 CYP19A1 CYP2B6 EPHX2 ERLEC1 HSD11B2 HTR2A LYZ NTNG1 PARP9 PTGS2 SCD SGSH	1312 152330 1555 1586 1588 2053 22854 27248 27255 276 277 278 31 3291 3356 4069 53942 55790 5743 6319 6448 83666 952	Homo sapiens (human)
DOID:62	aortic valve disease	ACAN ENPP1 KL NT5E PLA2G7 PLPP3 STS	176 412 4907 5167 7941 8613 9365	Homo sapiens (human)

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