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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 **3326 - 3350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:4988	alcoholic pancreatitis	ADH1B ADH1C ADH4 AKR1A1 ALDH2 CD14 CEL CYP2E1 HPGDS LPL UGT1A7	10327 1056 125 126 127 1571 217 27306 4023 54577 929	Homo sapiens (human)
DOID:0060067	Pearson syndrome Aliases: Pearson Marrow-Pancreas Syndrome	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)
DOID:11151	cholecystolithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)
DOID:10488	imperforate anus Aliases: Congenital atresia of anus Congenital or infantile occlusion of anus anal atresia	B3GLCT COMT FKRP FKTN LARGE1 PIGN PIGO POMT1 POMT2	10585 1312 145173 2218 23556 29954 79147 84720 9215	Homo sapiens (human)
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1 Aliases: DSMA1 SIANRF SMARD1 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal spinal muscular atrophy 1 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy with respiratory distress type 1	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 FUT4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2526 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)
DOID:9446	cholangitis	CLEC16A FUT2 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A MANBA MGLL PLA2G10 PLA2G2A PLA2G2D SMUG1 STS	11343 23274 23583 2524 26279 3383 3554 3632 412 4126 5320 64090 8399 8809	Homo sapiens (human)
DOID:9279	hyperhomocysteinemia	ACE ADH5 ALOX5 ATP1A2 CAT CYP1A1 CYP2J2 FOLR1 FOLR2 G6PD GPX1 GPX7 HSD11B1 ICAM1 MBL2 OLR1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKM PTGS2 SHMT1 SLC33A1 SMPD1 VCAM1	128 1543 1573 1636 2348 2350 240 2539 2876 2882 3290 3383 4153 477 4973 5091 5290 5291 5293 5294 5315 5743 6470 6609 7412 847 9197	Homo sapiens (human)
DOID:0110271	cataract 23 Aliases: CTRCT23 lamellar cataract 23	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)
DOID:0110587	autosomal dominant nonsyndromic deafness 66 Aliases: DFNA66 autosomal dominant deafness 66	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:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	ALG2 COG1 COG4 COG8 MAN1B1 SLC39A8	11253 25839 64116 84342 85365 9382	Homo sapiens (human)
DOID:10845	St. Louis encephalitis Aliases: Neuroinvasive St. Louis encephalitis virus infection	ACE CALR CAT CD14 CD33 CD48 FCN2 GLT1D1 LGALS1 MICA PIK3CD SELL SELP SEMA7A SGMS1 SIGLEC1 SOAT1	100507436 144423 1636 2220 259230 3956 5293 6402 6403 6614 6646 811 847 8482 929 945 962	Homo sapiens (human)
DOID:1678	chronic interstitial cystitis	ACAN ALDH2 DCN DGCR2 ICAM1 INPP5D MGLL MRC1 PARP1 PIK3CA PIK3CB PIK3CD PLA2G2A PLA2G6 PLB1 PTGS2 SELE SFTPD SMC3 UMOD	11343 142 151056 1634 176 217 3383 3635 4360 5290 5291 5293 5320 5743 6401 6441 7369 8398 9126 9993	Homo sapiens (human)
DOID:0050693	Brooke-Spiegler syndrome Aliases: BRSS BSS CYLD cutaneous syndrome SBS Spiegler-Brooke Syndrome	PNPLA6 XYLT1	10908 64131	Homo sapiens (human)
DOID:0110043	Alzheimer's disease 10 Aliases: AD10 Alzheimer disease 10 Alzheimer disease familial 10 Alzheimer's disease 10, early onset	ABO ACACA ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT4 B3GAT1 BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHRS11 DLD DLST DPEP2 EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAMPT NANS NCAM1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SYNJ1 TIGAR TKT TM7SF2 TMED9 TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11332 11343 1178 1203 1272 130749 1312 131375 132789 1374 142 1431 1462 1464 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 1946 196051 200576 2023 2026 2053 217 2194 2215 2220 2224 22933 23127 23236 23274 23305 2350 23583 23646 23659 239 240 248 250 2539 2571 2572 2588 2597 26033 26232 2629 26330 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2990 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5105 51084 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 79154 7941 79712 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8803 8867 8877 9023 9104 9173 9197 929 9365 9388 9420 945 9468 952 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:2316	brain ischemia Aliases: Ischaemic encephalopathy Ischemic encephalopathy cerebral ischemia	ACE AKT1 ALOX15 ALOX5 APEX1 BAD CAT CSPG4 CYP19A1 ENO2 FCN1 G6PD GCDH GFRA1 GPNMB GPX1 ICAM1 IL6ST LGALS1 LGALS3 MBL2 MDH2 NAMPT PARP1 PCNA PGP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PRNP PTGIS PTGS1 PTGS2 SELE SLC33A1 TLR4	10135 10457 142 1464 1588 1636 2026 207 2219 240 246 2539 2639 2674 283871 2876 328 3383 3572 3956 3958 4153 4191 5111 5290 5291 5293 5294 5321 5373 5621 572 5740 5742 5743 6401 7099 847 9197	Homo sapiens (human)
DOID:1526	panniculitis	AGL PARP1 SMUG1	142 178 23583	Homo sapiens (human)
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	CALR CD22 CHIT1 CPT1A FASN FCER2 FCN2 GBA1 GBA2 GNPDA2 GPC1 LGALS9 LIPA NPC1 PIK3CA SMPD1 ST3GAL5 UGCG	1118 132789 1374 2194 2208 2220 2629 2817 3965 3988 4864 5290 57704 6609 7357 811 8869 933	Homo sapiens (human)
DOID:11504	autonomic neuropathy	ABO ACE ACHE ALDH3A2 ARSA B4GALNT1 BST2 CACNA2D2 CD1D CDH13 CHI3L1 COL9A2 COMT CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 DEGS1 DLD ELOVL4 ENO2 ENPP2 FCN2 GAD1 GAD2 GBA1 GBA2 GCDH GLUL GOLPH3 GPI GPX1 GUSB HK1 HPGDS HPRT1 IDH3A IDS INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MGLL NAGA NCAM1 NCAN NEU3 OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 SARM1 SEMA7A SHMT1 SIGLEC7 SIRT2 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 TMED9 TPI1	1012 10558 10724 10825 10908 1116 11343 1298 1312 142 1463 149175 151056 1544 1555 1558 1559 1593 1636 1727 1738 2026 2220 224 22933 23098 23583 2571 2572 2583 2629 2639 27036 27306 2752 28 2821 283871 284098 2876 2990 3098 3251 3419 3423 3636 3897 4069 4099 410 4126 43 4668 4684 4860 4967 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 64083 64116 6470 6517 6609 6785 684 7167 7903 8398 8399 8482 8560 8803 912 9254 9365	Homo sapiens (human)
DOID:4552	large cell carcinoma	CD44 CEACAM5 CYP1A1 GLDC ME1 SLC2A3	1048 1543 2731 4199 6515 960	Homo sapiens (human)
DOID:0080568	congenital disorder of glycosylation Iq Aliases: congenital disorder of glycosylation 1q	DOLK DPM1 MOGS MPDU1 MPI PMM2 SLC35A1 SRD5A3	10559 22845 4351 5373 7841 79644 8813 9526	Homo sapiens (human)
DOID:8533	hypopharynx cancer Aliases: Hypopharyngeal cancer malignant Hypopharyngeal tumor malignant neoplasm of hypopharynx malignant tumor of hypopharynx malignant tumour of hypopharynx	ACACB ADH1B AKR1A1 ALDH2 CALR CD44 CYP1A1 GAPDH SMUG1	10327 125 1543 217 23583 2597 32 811 960	Homo sapiens (human)
DOID:1759	American histoplasmosis	ATP6V1A LGALS1	3956 523	Homo sapiens (human)
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4GAT1	11041	Homo sapiens (human)
DOID:8110	periampullary adenocarcinoma	MRC1 MTAP	4360 4507	Homo sapiens (human)
DOID:4752	multiple system atrophy Aliases: Shy-Drager syndrome	ACE COQ2 CYP11B2 ELOVL7 HEXB ICAM1 IGF2 OLR1 PAFAH1B1 PRNP	1585 1636 27235 3074 3383 3481 4973 5048 5621 79993	Homo sapiens (human)

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