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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 **3776 - 3800** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:3463	breast disease	CYP11A1 CYP17A1 HSD17B1 PTEN PTGES	1583 1586 3292 5728 9536	Homo sapiens (human)
DOID:0110805	hereditary spastic paraplegia 53 Aliases: SPG53 autosomal recessive spastic paraplegia 53 autosomal recessive spastic paraplegia type 53	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	INPPL1 LRP5	3636 4041	Homo sapiens (human)
DOID:823	periapical periodontitis Aliases: Apical periodontitis	ALOX5 CD14 ICAM1 SIRT2 SIRT6	22933 240 3383 51548 929	Homo sapiens (human)
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	ACADM ACSBG1 ALG10 ALG10B CNTN3 CYP1A1 KCNQ1 PTEN SCD SLC2A5 SQLE	144245 1543 23205 34 3784 5067 5728 6319 6518 6713 84920	Homo sapiens (human)
DOID:1443	cerebral degeneration Aliases: Brain degeneration	ABO ACACA ACADVL ACAT1 ACE ACER3 ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 ADH1B ADPRS AGA AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALG11 ALG13 ALG1 ALG3 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATP6AP2 ATP6V1A ATRNL1 B3GALNT2 B3GALT4 B3GAT1 B3GLCT BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG1 COG4 COG5 COG6 COG7 COLGALT1 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHDDS DHRS11 DLD DLST DPEP2 DSE EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 EPM2A EXT1 EXT2 FASN FBXO2 FCGR3B FCN2 FDPS FH FOLR2 FUCA1 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GBA2 GFRA1 GGT1 GLB1 GLO1 GLUL GM2A 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 LMAN2L LPL LTC4S LYZ LYZL4 MAG MAN1B1 MAN2B1 MASP1 MBL2 MBOAT7 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MOGS MPDU1 MPG MPI MRC1 NAAA NAGA NAMPT NANP NANS NCAM1 NDST1 NEU1 NGLY1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCCA PCCB PCK1 PCYT1A PCYT1B PCYT2 PDHA1 PEMT PFKFB3 PGAP1 PGD PGP PI4KA PIGC PIGG PIGL PIGN PIGT PIGU 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 SLC17A5 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL3 ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG1 SUCLG2 SUMF1 SYNJ1 TECR TIGAR TKT TM7SF2 TMED9 TPI1 TUSC3 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10159 10195 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11253 11332 11343 1178 1203 125 1272 128869 130749 1312 131375 132789 1374 140838 142 1431 145173 1462 1464 148789 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 175 1946 196051 200576 2023 2026 2053 2131 2132 217 2194 2215 2220 2224 2271 22933 23127 23236 23274 23305 2350 23556 23583 23646 23659 239 240 248 250 2517 2539 2571 2572 25839 2588 2597 26033 26232 2629 26330 26503 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 2760 28 2817 2821 283871 285362 2876 2990 29940 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3340 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 4125 4153 4191 4241 4248 427 43 4350 4351 4360 440138 4594 4668 4680 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5095 5096 5105 51084 51266 5130 51478 51548 5160 51604 5168 51763 5209 5226 523 5279 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 54872 54936 55331 5538 55512 5553 5563 55741 55753 55768 55902 55997 56052 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 57511 57704 5833 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6487 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 7841 79143 79154 7941 7957 79709 79712 79868 7991 79947 79966 80055 80142 80896 811 81562 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8802 8803 8867 8877 9023 9104 9173 91949 9197 929 9365 9382 9388 9420 945 9468 9487 952 9524 9526 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	STS	412	Homo sapiens (human)
DOID:6163	familial renal papillary carcinoma Aliases: Hereditary Papillary renal carcinoma	FH	2271	Homo sapiens (human)
DOID:10300	Raynaud disease Aliases: Raynaud's disease Raynaud's syndrome	ACE AGXT ANXA5 CAT CNTN3 GAD1 SDHC	1636 189 2571 308 5067 6391 847	Homo sapiens (human)
DOID:0080325	tuberous sclerosis 2	NTHL1 PKD1 PTEN	4913 5310 5728	Homo sapiens (human)
DOID:3633	beta-mannosidosis Aliases: Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency	MANBA SGSH	4126 6448	Homo sapiens (human)
DOID:4769	pleuropulmonary blastoma	NCAM1	4684	Homo sapiens (human)
DOID:2384	Wernicke encephalopathy Aliases: Wernicke's disease Wernicke's encephalopathy	PTGS2 SMUG1 TKT	23583 5743 7086	Homo sapiens (human)
DOID:0110850	xeroderma pigmentosum group B Aliases: XP group B XPB XPBC	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	ACAT1 ACE AKR1B1 APRT ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP3A4 CYP4F3 FASN FH G6PD HSD11B1 HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 PTGS2 SLC26A2 SLC33A1 SLC5A1 SMUG1	10159 1576 1583 1584 1585 1586 1588 1589 1636 1836 2194 2271 231 23583 2539 3283 3284 3290 3291 353 38 3958 4051 4952 5652 5743 6523 9197 9469 960	Homo sapiens (human)
DOID:539	ophthalmoplegia Aliases: Total ophthalmoplegia extraocular muscle paralysis eye movement paralysis oculomotor paralysis	ACO2 ACOX1 ACSL4 ADPRS AGK AGRN ALDH5A1 ALDH7A1 ALG11 ALG3 ALG6 ATP6V0A2 ATP6V1A B3GALNT2 CA4 CACNA2D2 CACNA2D4 CHAT CHST14 COG5 COLEC11 COMT CYB5R3 CYP1B1 DDOST DHCR24 DHDDS ECHS1 ELOVL4 EOGT EXT2 FCSK FKRP FKTN GALC GAS1 GBA1 GFPT1 GK GMPPB GPC1 HACD1 HGSNAT HIBCH HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MDH2 MPDU1 MTM1 MTMR14 NAGA NGLY1 NSDHL NYX OCRL PDHA1 PIGL PIGP PIGQ PIGT PIGY PLA2G6 PMM2 PNPLA6 POMGNT1 POMK POMT1 POMT2 PTEN RFT1 SDHA SDHB SDHD SGPL1 SLC2A10 SLC35A2 SLC39A8 SMC3 SUCLA2 TYMP	10195 10466 10585 10908 1103 113189 1312 138050 148789 1545 1650 1718 1727 1890 1892 197258 2132 2182 2218 23545 2581 2619 26275 2629 2673 2710 2817 285203 29925 29929 29954 3295 3419 3420 375790 3897 4191 440138 4534 4668 4952 50 501 50814 51 51227 5160 51604 51763 523 5373 54936 55624 55750 55768 56623 5728 60506 6389 6390 6392 64116 64419 6785 7355 762 78989 79147 7915 79944 79947 81031 8398 84197 84992 8803 8879 9091 9126 91869 9200 9215 9254 93589 9487 9526	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)
DOID:0080750	erythema nodosum	TNF	7124	Homo sapiens (human)
DOID:0111353	arthrogryposis, renal dysfunction, and cholestasis 1 Aliases: ARCS1	ALPL GGT1	249 2678	Homo sapiens (human)
DOID:0110389	retinitis pigmentosa 73 Aliases: RP73	HGSNAT	138050	Homo sapiens (human)
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CSPG4 DCN FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2 SOAT1	10585 11041 1120 1272 1464 1634 217 2218 2632 3098 31 43 4534 55624 5563 64419 6646 79147 9200 9215 952	Homo sapiens (human)
DOID:0111196	X-linked distal spinal muscular atrophy 3 Aliases: ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 X-linked recessive distal spinal muscular atrophy	PGK1	5230	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:630	genetic disease	COG7	91949	Homo sapiens (human)
DOID:12385	shigellosis Aliases: Shigella boydii infectious disease Shigella flexneri infectious disease Shigella gastroenteritis Shigella sonnei infectious disease bacillary dysentery	ATP6AP2 BCKDHA CD248 CD48 CLEC7A CTSA GUSB HSD17B6 LYZ SFTPA1 ST8SIA2	10159 2990 4069 5476 57124 593 64581 653509 8128 8630 962	Homo sapiens (human)

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