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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1601 - 1625** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110200	Charcot-Marie-Tooth disease dominant intermediate D Aliases: CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)
DOID:12365	malaria Aliases: induced malaria	ABO ACACA ACE ACHE ACOT7 ADH1B AKR1A1 ALOX5 ANXA4 ANXA7 B3GAT1 CAT CD14 CD1D CD55 CDH13 CEL CERS1 CFC1 CHI3L1 CHIT1 CS CYP1A2 CYP2B6 CYP2C19 CYP2C8 CYP3A4 ENO2 ENOSF1 FCGR3B FCN2 FUT9 G6PD GAPDH GLO1 GOLPH3 GPX1 H6PD HK1 HPGDS HPRT1 HPSE HSD11B1 ICAM1 IL18R1 IL1R1 ISYNA1 LMAN1 MASP2 MBL2 MCAT MOGS MPPE1 NANP PGAM1 PGD PGLS PGM1 PKLR PNP POFUT2 POMGNT2 PSAP PTGS2 SDC1 SELE SPHK1 TMED9 TNF UMPS VNN1 VNN2	1012 10327 1056 10690 10715 10747 10855 1116 1118 11332 125 140838 1431 1544 1555 1557 1558 1576 1604 1636 2026 2215 2220 23275 240 2539 25796 2597 27087 27306 27349 2739 28 2876 307 3098 31 310 3251 3290 3383 3554 3998 4153 43 4860 51477 5223 5226 5236 5313 54732 55556 55997 5660 5743 6382 6401 64083 65258 7124 7372 7841 847 84892 8809 8875 8876 8877 912 929 9563	Homo sapiens (human)
DOID:0060599	Nance-Horan syndrome	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0060718	autosomal recessive congenital ichthyosis 9 Aliases: ARCI9	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:0080216	duodenal atresia	GAS1 PIGN	23556 2619	Homo sapiens (human)
DOID:5003	eunuchism	B4GALNT1 CD44 CD55 CTNS CYP2R1 G6PC3 HS6ST1 NT5E SEMA7A STS	120227 1497 1604 2583 412 4907 8482 92579 9394 960	Homo sapiens (human)
DOID:14701	propionic acidemia Aliases: GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency	GPX3 MMUT OGG1 PCCA PCCB	2878 4594 4968 5095 5096	Homo sapiens (human)
DOID:14286	neurogenic arthropathy Aliases: Arthropathy associated with neurological disorder Charcot's arthropathy Neuropathic arthropathy	ACAN ALOX5 CD14 CHI3L1 CHST3 CNTN2 CPT2 DCN DHCR24 ENPP1 GPI HJV HK1 IL1R1 LGALS3 MBL2 PTGS1 PTGS2 SFTPD SMUG1 VCAN VTCN1	1116 1376 1462 148738 1634 1718 176 23583 240 2821 3098 3554 3958 4153 5167 5742 5743 6441 6900 79679 929 9469	Homo sapiens (human)
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	ABO ACE ACHE ACO2 ADRB3 AKR1B10 ANXA5 APRT ARSB ASAH1 ASAH2 CALR CAT CD14 CD1D CEACAM5 CEACAM6 CEL CHI3L1 CHIT1 CLEC6A CLEC7A CYP1A1 CYP1A2 CYP2C19 CYP3A4 DCN EBP EDEM1 EFNA5 ENPP7 FCGR3B FCN1 FUT1 FUT2 FUT3 FUT4 GBA2 GBA3 GCLC GLB1 GPNMB GUSB HEXA HPGDS HSD11B2 HSPG2 ICAM1 INPP5D ISYNA1 LCT LEP LPCAT1 MASP1 MASP2 MBL2 MGAM MOGS MPI PARP3 PARP9 PCK1 PGD PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G2A PLA2G4A PLB1 PLCB3 PLCD1 PLCZ1 PPARA PRKAA2 PRNP PRSS8 PTEN PTGES3 PTGS2 RECK RGMA SELP SFTPA1 SFTPA2 SFTPC SFTPD SI SIRT2 SLC27A5 SMPD1 SPHK2 STS SULT1E1 SUMF1 TLR4 TNF UGT1A1 VCAM1	10039 10457 1048 1056 10682 10728 10747 10998 1116 1118 151056 1543 1544 155 1557 1576 1634 1636 1946 2215 2219 22933 2523 2524 2525 2526 2720 2729 27306 28 285362 2990 3073 308 3291 3339 3383 339221 353 3635 3938 3952 411 412 4153 427 43 4351 4680 50 5105 51477 5226 5238 5290 5291 5293 5294 5310 5315 5320 5321 5331 5333 5465 54658 5563 5621 5648 5652 56624 56848 56963 57016 5728 5743 57704 57733 6403 6440 6441 64581 6476 653509 6609 6783 7099 7124 729238 7412 7841 79888 811 83666 8434 847 8972 89869 912 929 93978 9695	Homo sapiens (human)
DOID:268	liver angiosarcoma Aliases: angiosarcoma of liver hemangiosarcoma of the Liver	PIK3CA PLCG1 PTEN QTRT1	5290 5335 5728 81890	Homo sapiens (human)
DOID:0110851	rhizomelic chondrodysplasia punctata type 1 Aliases: Pbd9 Peroxisome Biogenesis Disorder 9 Rcdp1	AGPS ARSH DHCR24 EBP FAR1 GNPAT HSD17B4 NSDHL STS SUMF1	10682 1718 285362 3295 347527 412 50814 84188 8443 8540	Homo sapiens (human)
DOID:3962	thyroid gland follicular carcinoma Aliases: Follicular adenocarcinoma Follicular adenocarcinoma, well differentiated Follicular carcinoma Thyroid adenocarcinoma follicular thyroid carcinoma	ACACA ACE CD44 CEACAM5 CYP24A1 CYP27B1 CYP2R1 DPEP1 ENPP2 GPC3 ICAM1 IDH1 IDH2 KL KLB LGALS3 MINPP1 NCAM1 NTHL1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGES3 PTGS2 QPRT SDHB SDHC SDHD SLC2A3 SPHK1 ST6GAL2 ST6GALNAC2 ST6GALNAC4 ST8SIA4 STT3A	1048 10610 10728 120227 152831 1591 1594 1636 1800 23475 27090 2719 31 3383 3417 3418 3703 3958 4684 4913 4968 5168 5290 5291 5293 5294 5728 5743 6390 6391 6392 6515 7903 84620 8877 9365 9562 960	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:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	AGA ALG11 ALG12 ALG13 ALG1 ALG1L2 ALG2 ALG3 ALG6 ALG8 ALG9 ALPI ALPP APRT ATP6AP1 ATP6AP2 ATP6V0A2 B4GALT1 CCDC115 COG2 COG5 COG6 COG7 COG8 DAG1 DCN DDOST DLD DPAGT1 FCSK FUT8 GOLPH3 GPI MAN1A1 MAN1B1 MGAM MGAT2 MOGS MPDU1 MPI PGAP1 PGAP3 PGM1 PGM3 PMM2 POFUT2 RFT1 RXYLT1 SI SLC35A1 SLC35A2 SLC35A3 SLC39A8 SRD5A3 ST3GAL3 STT3A STT3B TMEM165 TUSC3	10159 10195 10329 10466 10559 11253 1605 1634 1650 1738 175 1798 197258 201595 22796 23275 23443 23545 248 250 2530 2683 2821 29929 353 3703 4121 4247 4351 440138 5236 5238 537 5373 55858 56052 57511 64083 64116 644974 6476 6487 7355 7841 79053 79087 79644 79796 79868 7991 80055 84317 84342 85365 8972 91869 91949 93210 9526	Homo sapiens (human)
DOID:8544	chronic fatigue syndrome Aliases: CFS Myalgic encephalitis Myalgic encephalomyelitis Postviral fatigue syndrome	ACE ADH5 ALOX5 APRT ARSA B3GAT1 CAT CD14 CD1D CD38 CD44 CD48 CD74 CD93 CEMIP CERS2 CERS6 CH25H CHAT CHGA CLEC12A COMT CPT1A CPT2 CYP17A1 CYP27B1 CYP46A1 DEGS1 DGAT1 FASN FCN1 FOLR2 FUT7 FUT8 GANAB GAPDH GCK GLUL GPI HPGDS HPRT1 HPSE ICAM1 ICAM5 IL1R1 ISYNA1 KL KLRK1 LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LY75 MASP2 MBL2 MGLL NCAM1 NDST1 NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PSMD10 PTEN PTGDS PTGES PTGS2 RGMA RTN4R SDC1 SELE SELP SEMA7A SIGLEC12 SIGLEC1 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 STS SULT1E1 TMED5 TPI1 VCAM1	10747 10855 10858 1103 1113 11343 128 1312 1374 1376 142 151056 1586 1594 160364 1636 2194 2219 22914 22918 23193 2350 23583 240 2529 2530 253782 2597 2645 27087 27306 2752 2821 29956 3251 3340 3383 353 3554 3939 3956 3958 3960 3964 3965 4065 410 412 4153 4684 4907 50999 51477 51548 5290 5291 5293 5294 5315 5319 5320 5321 56848 56963 5716 57214 5728 5730 5743 6382 6401 6403 6484 65078 6609 6614 6646 6783 7087 7167 7412 8398 847 8482 8560 8694 8877 89858 9023 912 929 9365 952 9536 960 962 972	Homo sapiens (human)
DOID:1099	alpha thalassemia Aliases: Alpha thalassaemia alpha-Thalassemia	COL9A2 G6PD GPX1 PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 2876 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)
DOID:0111420	familial GPIHBP1 deficiency Aliases: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency hyperlipoproteinemia type 1D hyperlipoproteinemia type ID	GPIHBP1	338328	Homo sapiens (human)
DOID:11257	social phobia	ABO CAT COMT GAD1 MANEA NANS PSAP	1312 2571 28 54187 5660 79694 847	Homo sapiens (human)
DOID:0050783	secondary progressive multiple sclerosis Aliases: SPMS Secondary-progressive MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)
DOID:3001	female reproductive endometrioid cancer Aliases: endometrioid neoplasm endometrioid tumor	PTEN	5728	Homo sapiens (human)
DOID:13206	nodular prostate	ACE ACSS2 AKR1B10 ALDH7A1 ALOX12 ALOX15 ALOX15B ALOX5 AMACR ANXA7 CANX CAT CD177 CD44 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP2B6 CYP3A4 CYP3A5 EFNA2 ELOVL6 ENO2 ENPP1 ENPP2 GALNT3 GGT1 GLCE GOLPH3 GPC1 HMMR HPGDS HPSE HSD17B1 HSD17B2 HSD17B3 HSD17B7 ISYNA1 KLB LDHA LGALS8 LPL LYZ MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLD1 PRG2 PTEN PTGS2 RECK RENBP SLC33A1 SRD5A1 SRD5A2 STS SULF1 SULT1E1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B15 UGT2B17 VCAN	10855 1312 1462 152831 1543 1545 1555 1576 1577 1583 1586 1588 1636 1943 2026 23213 23600 23659 239 240 246 247 2591 26035 2678 27306 2817 310 3161 3292 3293 3294 3939 3964 4023 4069 412 4360 501 51477 51478 5167 5168 5290 5291 5293 5294 5337 54575 54576 54577 54578 54657 54658 5553 55902 57016 57126 5728 5743 5973 64083 6715 6716 6783 7366 7367 79071 821 8434 847 9197 960	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:0110202	Charcot-Marie-Tooth disease dominant intermediate A Aliases: CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	HSD11B1	3290	Homo sapiens (human)

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