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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 **151 - 175** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:9275	tyrosinemia	ACAT1 IDUA OGG1	3425 38 4968	Homo sapiens (human)
DOID:9274	hyperlysinemia	GAD1 GCDH HMGCL PC	2571 2639 3155 5091	Homo sapiens (human)
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ACOX1 ARSD GGT1 GPD2 SLC25A12 SLC25A13	10165 2678 2820 414 51 8604	Homo sapiens (human)
DOID:9271	ornithine carbamoyltransferase deficiency Aliases: deficiency of citrulline phosphorylase ornithine transcarbamylase deficiency	CYP21A2 GLUL	1589 2752	Homo sapiens (human)
DOID:9270	alkaptonuria Aliases: Homogentisate 1,2-dioxygenase deficiency alcaptonuria	CHIT1 SMUG1	1118 23583	Homo sapiens (human)
DOID:9269	maple syrup urine disease Aliases: Ketoacidaemia branched chain ketoaciduria	BCKDHA BCKDHB CACNA2D2 CYB5R3 DBT DLD HADH LPL UMOD	1629 1727 1738 3033 4023 593 594 7369 9254	Homo sapiens (human)
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT B3GAT1 GCSH GLDC GLYCTK MGAT1 UGCG	132158 2653 27087 2731 275 4245 7357	Homo sapiens (human)
DOID:9267	urea cycle disorder Aliases: disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorder of urea cycle metabolism urea cycle defect	ACADL ACADM ACADVL ACAT1 AMT CAT CPT1A CPT2 CYP2C9 DLD GCK GCSH GLUL HADH HADHA HADHB HMGCL MMUT OGDH PC PCCA PCCB	1374 1376 1559 1738 2645 2653 275 2752 3030 3032 3033 3155 33 34 37 38 4594 4967 5091 5095 5096 847	Homo sapiens (human)
DOID:9266	cystinuria	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT CYP4F3 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALT GBE1 GLA GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PGAM2 PGK1 PGM1 PYGL PYGM SI SLC2A2 SLC35A2 SLC37A4 SLC3A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2717 27306 28 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 4245 4534 4706 5211 5213 5224 5230 5236 54575 54576 54577 54578 54657 54658 57818 5836 5837 6476 6514 6519 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 9526	Homo sapiens (human)
DOID:9263	homocystinuria Aliases: CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency	ALDH7A1 CAT CYP7A1 MMUT PEMT SCD	10400 1581 4594 501 6319 847	Homo sapiens (human)
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	ABO ACE ADH1B AGK AKR1B10 ALDH2 ALPI ALPP AMACR ANXA5 ANXA7 APRT ARSA ART1 BDH2 BST2 CACNA2D2 CACNA2D3 CALR CD209 CD38 CD44 CD93 CDH13 CEL CLC CPT1A CYB5R2 CYP2E1 DHCR24 EFNA2 ENO1 FASN FCER2 FH FOLR1 GALC GALNT7 GFPT1 GGT1 GPX1 GPX2 GUSB HPGDS HPSE ICAM1 INPP4B KLRK1 LDHA LGALS1 LGALS9 LYPD5 MAPK14 MICA MLYCD MMUT MRC1 MTAP OGG1 OPCML PARP1 PFKFB3 PIGU PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G6 PLA2G7 PLAAT3 PLB1 PLCD3 PNPLA2 PRKAA2 PTEN PTGS2 RECK RPN2 RTN4R RTN4RL1 SDC1 SELP SIRT2 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SRGN TIGAR TKT TKTL1 TM7SF2 TP53 TYMP UGT2B17 VCAM1	100507436 1012 1056 10855 11145 113026 1178 125 128869 1374 142 1432 146760 151056 1571 1636 1718 1890 1943 2023 217 2194 2208 2271 22914 22918 22933 23417 2348 23583 23600 248 250 2581 2673 2678 27306 28 284348 2876 2877 2990 308 30835 310 3383 353 3939 3956 3965 410 417 4360 4507 4594 4968 4978 51548 51700 51809 5209 5290 5291 5293 5294 5315 5319 5552 5563 55750 55799 56898 57016 57103 57104 5728 5743 6185 6382 6403 65078 6609 6646 684 7086 7108 7157 7367 7412 7941 811 8277 8398 8434 8821 8877 9254 952 960	Homo sapiens (human)
DOID:9258	Waardenburg syndrome Aliases: Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome	ABO ALPP	250 28	Homo sapiens (human)
DOID:9256	colorectal cancer	ABO ACACA ACACB ACADM ACAN ACAT1 ACE ACHE ACLY ACO2 ACOT7 ACOX1 ACSBG1 ACSL1 ACSL4 ACSL5 ACSS2 ACYP2 ADH1B ADH1C ADH7 AFMID AGL AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C3 AKT1 AKT2 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOB ALOX12 ALOX12B ALOX15 ALOX15B ALOX5 ALPI ALPP AMACR AMDHD2 AMT ANXA4 ANXA5 ANXA7 ANXA9 APRT ARSA ARSB ART1 ASAH1 ASAH2 ATP6AP2 ATP6V1A ATRNL1 B3GALT4 B3GALT5 B3GAT1 B3GNT6 B3GNT7 B3GNT8 B3GNTL1 B4GALNT3 B4GALT1 B4GALT2 B4GALT3 B4GALT5 B4GALT6 BAAT BPHL BRAF BST2 C1GALT1 C1GALT1C1 CA4 CACNA2D1 CACNA2D2 CALR CAT CBR1 CD109 CD14 CD177 CD209 CD248 CD33 CD38 CD44 CD55 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS4 CERS5 CERS6 CHAT CHGA CHI3L1 CHIT1 CHKA CHPF2 CHPT1 CHST4 CHST7 CHST8 CHSY1 CHSY3 CLC CLEC3A CMAS CNTN1 CNTN4 COG8 COMT CPM CPO CPT1A CPT2 CSGALNACT1 CTBS CTSA CYB5R1 CYB5R3 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP46A1 CYP4F3 CYP7A1 CYP7B1 DAG1 DCN DEGS1 DEGS2 DGKB DGKE DGKG DGKZ DHCR24 DHCR7 DHDDS DHRS11 DLD DPAGT1 DPEP1 DSEL EBP EFNA1 ELOVL5 ENO1 ENOSF1 ENPP1 ENPP3 ENPP7 EXTL3 FADS1 FADS2 FASN FBP1 FCGR3B FCN1 FCN2 FH FMOD FOLR1 FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT5 FUT6 FUT7 FUT8 FUT9 G6PD GAD1 GAD2 GALK1 GALM GALNS GALNT11 GALNT12 GALNT14 GALNT15 GALNT1 GALNT3 GALNT4 GALNT6 GALNT7 GAPDH GAS1 GCDH GCLC GCNT1 GCNT2 GCNT3 GCNT7 GDPD5 GFRA1 GFRA2 GGT1 GLB1 GLO1 GLTP GMDS GML GOLPH3 GPAA1 GPC1 GPC3 GPC6 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GUSB H6PD HADHB HAS2 HAS3 HEXB HIBCH HK1 HK2 HK3 HKDC1 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD17B7 HSPG2 HYAL1 HYAL2 ICAM1 ICAM5 IDH1 IDH2 IDUA IGF2R IL18R1 IL1R1 IL1RL1 IMPA1 INPP1 INPP4B INPP5D INPPL1 ISYNA1 ITPKC KL KLRC1 KLRK1 L1CAM LAYN LCT LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LMAN1 LPCAT2 LPCAT4 LPIN1 LPL LTA4H LTC4S LY6G6D LYNX1 LYPD5 MACROD1 MACROD2 MANBA MASP2 MBD4 MBL2 MCAT ME1 MECR MELTF MGAT4A MGLL MICA MINPP1 MMP25 MMUT MPG MRC1 MSLN MTAP MTM1 MTMR3 MTMR7 MUTYH NAAA NAMPT NANP NCAM1 NDST4 NEIL1 NEIL2 NEU1 NEU3 NT5E NTHL1 NTNG1 OGA OGDH OGDHL OGG1 OGT OLR1 OVGP1 PARG PARP1 PARP4 PARP6 PARP8 PCCA PCCB PCK1 PCYT1A PCYT1B PDHX PDIA3 PFKFB3 PGAM1 PGK1 PGM1 PGM5 PGP PIGF PIGK PIGN PIGO PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKD1 PKD1L2 PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAAT3 PLAUR PLB1 PLCB1 PLCD1 PLCE1 PLCG1 PLCH1 PLD1 PLD2 PLD4 PLEKHA8 PMM2 PNP PNPLA2 POC1B-GALNT4 POFUT1 POGLUT1 PPP1R3A PPP1R3C PPT1 PRG2 PRKAA2 PRNP PRPS1 PSMD10 PTEN PTGDS PTGES2 PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGMB RGN RPE RPIA RPN2 RTN4R RTN4RL2 SCD SDC1 SDC2 SDC4 SDCBP2 SDHB SDHC SDHD SELE SELL SELP SGMS1 SGMS2 SGPL1 SHMT1 SHMT2 SI SIGLEC6 SIGLEC7 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35G1 SLC39A8 SLC3A1 SMC3 SMPD1 SMUG1 SOAT1 SORD SPHK1 SPHK2 SQLE SRGN ST3GAL4 ST3GAL6 ST6GAL1 ST6GALNAC1 ST6GALNAC2 ST8SIA1 ST8SIA4 STS STT3A SULF1 SULF2 SULT1E1 SYNJ2 TDG TIGAR TKT TKTL1 TKTL2 TLR2 TM7SF2 TMED3 TMED6 TMED9 TMTC1 TNKS TP53 TPI1 TPST1 TUSC3 TYMP UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B15 UGT2B17 UGT2B28 UGT2B7 UGT3A2 ULBP2 UMPS UNG UPP1 VCAM1 VCAN VNN1 VTCN1	10026 100507436 100528030 10082 1012 10135 10143 10159 10164 10232 10317 10327 1040 10402 10457 1048 10610 10682 10690 10724 10747 10825 10855 10858 1087 1103 1113 11145 1116 1118 1119 11226 11320 11332 11343 114780 117248 1178 120227 122618 123099 125 125061 126 1272 128869 130589 130749 131 1312 135228 1368 1374 1376 140687 140733 140838 142 143 143903 1462 146456 146712 1486 151056 152330 1543 1544 1545 1555 1557 1559 1571 1576 1577 1581 1586 1588 1591 159371 1594 1604 1605 1607 1608 1634 1636 1645 166929 167127 1717 1718 1727 1738 176 178 1798 1800 1836 1890 192134 1942 2023 207 208 2137 217 218 2180 2182 219 2194 220 2203 2215 2219 2220 2271 22854 22856 229 22914 22933 22934 23007 231 23175 23205 23213 23236 2331 23409 23423 2348 2350 23509 23556 23583 23600 23659 239 240 242 246 247 248 250 2517 2523 2524 2525 2526 2527 2528 2529 252969 2530 253782 2539 254531 2571 2572 2584 2588 2589 2591 259230 2597 26033 2619 26275 26279 2639 2650 26503 2651 2674 2675 2678 2683 27036 27087 27111 27163 27180 2719 2720 2729 27306 27349 2739 275 2762 2765 28 2817 2821 2822 283358 283871 284348 285704 2876 2877 2878 28992 29071 2923 2990 3032 3037 3038 307 3074 308 30835 3098 3099 31 310 3101 3157 3158 3161 32 3251 3290 3291 3292 3294 3295 3339 3373 337876 3383 339221 34 3417 3418 3425 3482 349667 353 3554 3612 3628 3635 3636 3703 374907 38 3821 3897 3938 3939 3945 3956 3958 3960 3964 3965 3990 3992 3998 4023 4048 4051 4056 410 411 412 4126 4153 417 4199 4241 427 43 4350 4360 4507 4534 4594 4595 4680 4684 47 4758 4860 4907 4913 4967 4968 4973 50 501 5016 50487 5095 5096 51 51005 5105 51102 51196 51228 5130 51477 51478 51548 5167 5169 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 54732 5476 54947 5506 5507 5538 5552 5553 55556 5563 55753 55790 55808 55902 55907 55959 5621 5631 56548 56624 56848 56913 56965 56983 56994 570 57016 57103 57104 57124 57126 5716 57214 5728 5730 5740 5742 5743 58530 5968 5973 60481 6120 6185 6319 6382 6383 6385 6390 6391 63917 6392 6401 6402 6403 64083 64116 64377 64386 64579 6470 6472 6476 6480 6484 6489 65078 6514 6515 6517 6518 6519 66004 6609 6646 6652 670 6713 673 6783 684 6996 7086 7087 7097 7108 7157 7167 7355 7364 7366 7367 7372 7374 7378 7412 762 781 7903 79154 7941 79603 79623 79661 79668 79679 79695 7991 79947 80142 80201 80271 80328 8050 811 81544 8277 83857 8394 8398 8399 84076 8416 8434 84342 8460 847 84720 84725 8473 8505 8525 8526 85329 8560 8644 8658 8692 8693 8703 8704 8705 873 8733 8809 8821 8871 8876 8877 8879 8897 8930 91012 9104 9108 9126 9173 9197 92126 9245 9254 929 93010 9331 9334 9365 9415 9420 945 946 9468 952 9536 9562 9563 960 98	Homo sapiens (human)
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	ACE ACHE CEACAM6 CHI3L1 CHIT1 CYP27A1 DLD EXT1 EXT2 FUT10 GFRA2 GLCE GLDC GNE MASP2 PLA2G6 PRNP PSAP SARM1 SMUG1 SPTLC1 ST3GAL4 SUCLA2 TMED9	10020 10558 10747 1116 1118 1593 1636 1738 2131 2132 23098 23583 26035 2675 2731 43 4680 54732 5621 5660 6484 8398 84750 8803	Homo sapiens (human)
DOID:9254	mast-cell leukemia	ACLY CD33 ENPP3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMPD1	47 5169 5290 5291 5293 5294 5743 6609 945	Homo sapiens (human)
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	ALDH7A1 AMACR ANXA5 CD14 CD44 CD55 CMAS CYP1A2 CYP1B1 CYP2C8 EPHX2 FASN HSD11B1 L1CAM LDHA LYZ MCAT MGLL MTAP NCAM1 NDST1 PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCB4 PTEN PTGS2 SDHA SDHB SDHC SDHD SELP SLC2A4 SMUG1 SOAT1 SORD TKTL1 VCAN	11343 1462 1544 1545 1558 1604 2053 2194 23583 23600 27349 308 3290 3340 3897 3939 4069 4507 4684 501 5286 5290 5291 5293 5294 5315 5332 55907 5728 5743 6389 6390 6391 6392 6403 6517 6646 6652 8277 929 960	Homo sapiens (human)
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ALDH6A1 GCSH GLUL HMGCL PCCA PCCB	2653 2752 3155 4329 5095 5096	Homo sapiens (human)
DOID:9246	cerebral amyloid angiopathy Aliases: Cerebral Hemorrhage, Hereditary, with Amyloidosis Hereditary Cerebral Hemorrhage with Amyloidosis	GPC1 HSPG2 OLR1 PRNP SDC2	2817 3339 4973 5621 6383	Homo sapiens (human)
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	GGT1 NAAA	2678 27163	Homo sapiens (human)
DOID:9240	erythromelalgia Aliases: erythermalgia	GLA PGP PTGS1	2717 283871 5742	Homo sapiens (human)
DOID:9230	pompholyx Aliases: Cheiropompholyx DYSHYDROTIC ECZEMA Vesicular eczema of hands and/or feet dyshidrosis	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1	1116 308 3417 3418 3420 3820 4051 6783 79993 8808	Homo sapiens (human)
DOID:9220	central sleep apnea Aliases: primary central sleep apnea	AGRN ALDH2 ANXA5 CAT CHAT COMT CYP3A5 INPP5E OLR1 PCYT1A PLCB4 PRPS1 PSAP SLC35A2	1103 1312 1577 217 308 375790 4973 5130 5332 5631 5660 56623 7355 847	Homo sapiens (human)
DOID:9212	pityriasis rubra pilaris Aliases: Devergie's disease	CAT CNTN3 GAD1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP	2571 5067 5290 5291 5293 5294 5621 847	Homo sapiens (human)
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	AKR1A1 AKR1B10 AKR1C2 AMACR APRT B3GAT2 CALR CAT CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CHST11 CYP17A1 CYP19A1 CYP1A1 DAD1 FASN FH FUT4 GOLPH3 GPX1 GPX2 GPX3 GPX7 HAS2 HPGDS HPSE ICAM1 ICAM2 KLRC1 KLRK1 LGALS9 MCAT MICA MPG MTAP OGG1 PARP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G4A PLB1 PLCE1 PTEN PTGES PTGS1 PTGS2 SI SLC35A2 SMUG1 SOAT1 STS TYMP UGT2B17 UGT8 VCAM1	100507436 1012 10327 1048 10855 1087 135152 142 151056 1543 1586 1588 1603 1604 1646 1890 2194 2271 22914 23583 23600 2526 27306 27349 2876 2877 2878 2882 3037 3383 3384 353 3821 3965 412 4350 4507 4680 4968 50515 51196 5277 5290 5291 5293 5294 5319 5321 57016 5728 5742 5743 64083 6476 6646 7355 7367 7368 7412 811 847 9536 960	Homo sapiens (human)
DOID:9201	lichen planus Aliases: Lichen, ruber planus lichen ruber planus	CAT CHI3L1 PTGS2 VCAM1	1116 5743 7412 847	Homo sapiens (human)

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