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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 **851 - 875** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080190	malignant epithelioid hemangioendothelioma	SMUG1	23583	Homo sapiens (human)
DOID:0080191	PTEN hamartoma tumor syndrome	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	CEACAM5 FASN IDH2 INPP5K MBD4 MRC1 PARP1 PIK3CA PTEN PTGES PTGS2 SULF1 VCAM1	1048 142 2194 23213 3418 4360 51763 5290 5728 5743 7412 8930 9536	Homo sapiens (human)
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)
DOID:0080198	infantile histiocytoid cardiomyopathy	IL1RL1	9173	Homo sapiens (human)
DOID:0080199	colorectal carcinoma	ABO ACACA ACACB ACADM ACAT1 ACE ACHE ACLY ACO2 ACOX1 ACSL1 ACSL4 ACSL5 ACSS2 ACYP2 ADH1B ADH1C ADH7 AKR1A1 AKR1B10 AKR1B1 AKR1C1 ALDH1A3 ALDH1B1 ALDH2 ALDOB ALOX12 ALOX15B ALOX5 ALPI ALPP AMACR AMDHD2 AMT ANXA4 ANXA5 ANXA7 ANXA9 APRT ARSA ARSB ART1 ASAH1 ATP6AP2 ATP6V1A B3GALT4 B3GAT1 B3GNT6 B4GALNT3 B4GALT1 B4GALT2 B4GALT3 B4GALT5 B4GALT6 BAAT BST2 C1GALT1 C1GALT1C1 CA4 CACNA2D2 CALR CAT CBR1 CD109 CD14 CD177 CD209 CD248 CD33 CD38 CD44 CD55 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS4 CERS6 CHI3L1 CHIT1 CHKA CHPF2 CHPT1 CHST7 CHST8 CHSY1 CHSY3 CLC CLEC3A CMAS CNTN1 CNTN4 COG8 COMT CPM CPO CPT1A CPT2 CTSA CYB5R1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2R1 CYP3A5 CYP46A1 CYP4F3 CYP7A1 CYP7B1 DCN DEGS1 DEGS2 DGKB DGKE DGKG DHDDS DHRS11 DLD DPAGT1 DPEP1 DSEL EBP EFNA1 ELOVL5 ENO1 ENOSF1 ENPP1 EXTL3 FADS1 FADS2 FASN FBP1 FCGR3B FCN1 FCN2 FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT5 FUT6 FUT8 FUT9 G6PD GAD2 GALK1 GALM GALNS GALNT11 GALNT12 GALNT14 GALNT15 GALNT1 GALNT3 GALNT6 GALNT7 GAPDH GAS1 GCDH GCNT1 GCNT2 GCNT3 GCNT7 GDPD5 GFRA1 GFRA2 GGT1 GLB1 GLO1 GLTP GMDS GML GOLPH3 GPAA1 GPC1 GPC3 GPC6 GPI GPNMB GPX1 GPX2 GPX3 GUSB HADHB HAS2 HIBCH HK1 HK2 HK3 HKDC1 HMGCS2 HMMR HPGDS HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD17B7 HSPG2 HYAL1 HYAL2 ICAM1 ICAM5 IDH1 IDH2 IDUA IGF2R IL18R1 IL1RL1 INPP1 INPP4B INPPL1 ISYNA1 KL KLRC1 KLRK1 L1CAM LCT LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS9 LIPC LPCAT2 LPCAT4 LPIN1 LTA4H LY6G6D LYPD5 MACROD1 MACROD2 MANBA MAPK14 MASP2 MBD4 MBL2 MCAT ME1 MECR MELTF MGLL MMUT MPG MRC1 MSLN MTMR3 MTMR7 MUTYH NAAA NAMPT NCAM1 NDST4 NEU1 NT5E NTHL1 NTNG1 OGA OGDH OGDHL OGG1 OGT OLR1 OVGP1 PARP1 PARP6 PARP8 PCCA PCCB PCK1 PCYT1A PDHX PDIA3 PFKFB3 PGAM1 PGK1 PGM1 PGM5 PGP PIGF PIGK PIGN PIGO PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD1L2 PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAAT3 PLAUR PLB1 PLCD1 PLCE1 PLCG1 PLD1 PLD2 PMM2 PNPLA2 POC1B-GALNT4 POFUT1 POGLUT1 PPP1R3A PPP1R3C PRG2 PRKAA2 PRNP PRPS1 PSMD10 PTEN PTGDS PTGES2 PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGMB RGN RPIA RPN2 RTN4R RTN4RL2 SCD SDC1 SDC2 SDCBP2 SDHB SDHC SDHD SELE SGMS1 SHMT1 SHMT2 SI SIGLEC6 SIGLEC7 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC2A3 SLC2A4 SLC33A1 SLC35A2 SLC35G1 SLC39A8 SMUG1 SOAT1 SPHK1 SPHK2 SQLE SRGN ST3GAL4 ST3GAL6 ST6GAL1 ST6GALNAC2 ST8SIA1 ST8SIA4 STS SULF1 SULF2 SULT1E1 TIGAR TKTL1 TMED6 TMTC1 TNKS TP53 TPI1 TPST1 TUSC3 TYMP UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B15 UGT2B17 UGT2B28 UGT2B7 UGT3A2 UMPS UNG UPP1 VCAM1 VCAN VNN1 VTCN1	10026 100528030 10082 1012 10135 10143 10159 10232 10327 1040 10402 10457 1048 10610 10682 10690 10724 10747 10855 10858 1087 11145 1116 1118 1119 11226 11343 114780 117248 1178 120227 123099 125 126 1272 128869 130589 130749 131 1312 135228 1368 1374 1376 140687 140733 142 1432 1462 146456 151056 152330 1543 1544 1545 1555 1557 1559 1571 1577 1581 1586 1588 1591 159371 1594 1604 1607 1608 1634 1636 1645 167127 1738 1798 1800 1890 192134 1942 2023 2137 217 2180 2182 219 2194 220 2203 2215 2219 2220 22854 22856 229 22914 22933 22934 231 23175 23213 23409 2350 23509 23556 23583 23600 23659 239 240 247 248 250 2517 2523 2524 2525 2526 2527 2528 2530 253782 2539 254531 2572 2584 2588 2589 2591 259230 2597 2619 26275 2639 2650 2651 2674 2675 2678 2683 27036 27087 27111 27163 27180 2719 2720 27306 27349 2739 275 2762 2765 28 2817 2821 283358 283871 284348 285704 2876 2877 2878 28992 29071 2923 2990 3032 3037 307 308 30835 3098 3099 31 310 3101 3158 3161 32 3290 3291 3292 3294 3295 3339 3373 337876 3383 34 3417 3418 3425 3482 349667 353 3628 3636 38 3821 3897 3938 3939 3945 3956 3958 3960 3965 3990 3992 4048 4051 410 411 412 4126 4153 417 4199 4241 427 43 4350 4360 4594 4595 4680 4684 47 4758 4907 4913 4967 4968 4973 50 5016 5095 5096 51 51005 5105 51102 51196 51228 5130 51477 51478 51548 5167 51703 51706 51809 5209 5223 523 5230 5236 5239 5281 5289 5290 5291 5293 5294 5310 5313 5315 5319 5320 5321 5329 5333 5335 5337 5338 5373 54480 54490 54575 54576 54577 54578 54600 54657 54658 5476 54947 5506 5507 5552 5553 55556 5563 55753 55902 55907 55959 5621 5631 56548 56848 56913 56965 56983 56994 570 57016 57103 57104 57124 57126 5716 57214 5728 5730 5740 5742 5743 58530 5968 5973 60481 6185 6319 6382 6383 6390 6391 63917 6392 6401 64083 64116 64377 64579 6470 6472 6476 6480 6484 6489 65078 6515 6517 6646 6713 6783 684 7087 7157 7167 7355 7364 7366 7367 7372 7374 7378 7412 762 7903 79154 79603 79623 79668 79679 79695 7991 79947 80142 80201 8050 811 81544 8277 83857 8398 8399 8416 8434 84342 8460 847 84720 8473 8526 85329 8560 8658 8692 8703 8704 8705 873 8733 8809 8821 8876 8877 8897 8930 9104 9108 9173 9197 92126 9245 9254 929 9331 9334 9365 9415 9420 945 946 952 9536 960 98	Homo sapiens (human)
DOID:0080200	bilateral renal aplasia	DHCR24 DHCR7 FREM1 GAS1 HS6ST1 NSDHL	158326 1717 1718 2619 50814 9394	Homo sapiens (human)
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3GALT1 B3GLCT POFUT2	145173 23275 8708	Homo sapiens (human)
DOID:0080202	adenoid cystic carcinoma	ACACA ACACB CD44 CNTN6 GPC3 HSPG2 ICAM5 IDH1 ISYNA1 LGALS3 LYZ NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 PYGB RECK SDC1 SLC3A2 SMUG1 ST3GAL4 TP53 VCAN	1462 23583 2719 27255 31 32 3339 3417 3958 4069 4684 51477 5290 5291 5293 5294 5728 5743 5834 6382 6484 6520 7087 7157 8434 960	Homo sapiens (human)
DOID:0080204	renal hypoplasia	B3GLCT COMT	1312 145173	Homo sapiens (human)
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	ACE ATP6AP2 FREM1 PIK3CA PIK3CB PIK3CD PIK3CG	10159 158326 1636 5290 5291 5293 5294	Homo sapiens (human)
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	PIGL	9487	Homo sapiens (human)
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	ACACA ACACB ACADM ACADVL ACO1 ADIPOQ ADRB3 ALDH2 CYP2E1 CYP8B1 DGAT2 FASN G6PD GPAM HADHA IRS2 LEP LEPR LPL MLYCD NAMPT PKLR PLA2G7 PNPLA3 PPARGC1A SCD SIRT2 SIRT4 SIRT6 TLR4 TNF UCP2	10135 10891 155 1571 1582 217 2194 22933 23409 23417 2539 3030 31 32 34 37 3952 3953 4023 48 51548 5313 57678 6319 7099 7124 7351 7941 80339 84649 8660 9370	Homo sapiens (human)
DOID:0080210	primary mediastinal B-cell lymphoma Aliases: Large cell lymphoma of the mediastinum Mediastinal diffuse large-cell lymphoma with sclerosis Primary mediastinal clear cell lymphoma of B-cell type	FCER2 FUT4 PIK3CA PIK3CB PIK3CD PIK3CG	2208 2526 5290 5291 5293 5294	Homo sapiens (human)
DOID:0080211	nodal marginal zone lymphoma	CHIT1	1118	Homo sapiens (human)
DOID:0080212	polycystic kidney disease 4	ACE CD44 CYP4A22 CYP7B1 DOLK EOGT HJV INPP5E MPI PIK3CA PKD1 PKD2 PNPLA6 UMOD	10908 148738 1636 22845 284541 285203 4351 5290 5310 5311 56623 7369 9420 960	Homo sapiens (human)
DOID:0080216	duodenal atresia	GAS1 PIGN	23556 2619	Homo sapiens (human)
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	CAT CEL CHIT1 LIPA LIPF NCAM1 SOAT2	1056 1118 3988 4684 8435 847 8513	Homo sapiens (human)
DOID:0080218	primary spontaneous pneumothorax	CERS1	10715	Homo sapiens (human)
DOID:0080220	obsolete major affective disorder 1	ACE COMT DGKH GAD1 IMPA2 NCAM1 NPL PFKL PIP4K2A PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 SMPD1	1312 151056 160851 1636 2571 3613 4684 5211 5305 5320 5321 6609 80896 8398 8399	Homo sapiens (human)
DOID:0080221	obsolete major affective disorder 2	ABO ACE COMT DGKH GAD1 IMPA2 INPP1 NCAM1 NPL PFKL PGP PIP4K2A PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 SMPD1	1312 151056 160851 1636 2571 28 283871 3613 3628 4684 5211 5305 5319 5320 5321 6609 80896 8398 8399	Homo sapiens (human)
DOID:0080222	pseudohypoparathyroidism type IB	ASAH1	427	Homo sapiens (human)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	OGT	8473	Homo sapiens (human)
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)
DOID:0080258	autosomal recessive congenital ichthyosis 14	SULT2B1	6820	Homo sapiens (human)

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