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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 **4151 - 4175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0050990	episodic ataxia type 2	PRKCSH	5589	Homo sapiens (human)
DOID:0110110	atrial heart septal defect 5 Aliases: ASD5 atrial septal defect 5	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:11212	hydrophthalmos	ARSD B3GAT3 CHST3 CYP1B1 CYP2B6 DAG1 FKRP FKTN FUT8 LARGE1 OCRL POMGNT1 POMT1 POMT2 PTEN	10585 1545 1555 1605 2218 2530 26229 29954 414 4952 55624 5728 79147 9215 9469	Homo sapiens (human)
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	COL6A1 CSPG4	1291 1464	Homo sapiens (human)
DOID:0111132	focal segmental glomerulosclerosis 7 Aliases: FSGS7	ACE	1636	Homo sapiens (human)
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	ABO ACACA ACADL ACOT7 ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH7 AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKT1 ALDH2 ALDH7A1 ALG3 ALOX12 ALOX15 ALOX5 ANXA5 APRT BAAT BST2 C1GALT1 CACNA2D3 CALR CD14 CD44 CDH13 CEACAM5 CEACAM7 CHI3L1 CHKA CHPT1 CHST15 CNTN1 COMT CPT1A CYP11A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 DCTD DGKA DHDDS DHDH EFNA1 FASN FUT4 G6PD GALNT14 GALNT7 GAPDH GBE1 GCNT2 GLO1 GOLPH3 GPC1 GPD2 GPX3 HAS3 HK2 HMGCS2 HPGDS HPSE ICAM1 IDH1 IDH2 KAT2B KLRK1 L1CAM LDHA LDHB LGALS9 LY6K LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MICA MRC1 MTAP MUTYH NEIL1 NT5E OGG1 OPCML PARG PARP1 PARP4 PDHA1 PFKFB3 PGD PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G2A PLA2G4A PLCD1 PLCE1 PRSS8 PTEN PTGES2 PTGES PTGS1 PTGS2 RECK RPN2 SDC2 SHMT1 SHMT2 SIGLEC7 SIRT4 SLC27A5 SMUG1 SOAT1 SPHK1 SQLE SRGN ST6GALNAC1 TIGAR TKTL1 TP53 TPI1 TUSC3 TYMP UGT1A1 UGT1A8 UGT2B17 UGT2B4 UMPS UNG UPP1 VTCN1	100507436 1012 10195 10327 1048 10747 10855 1087 10998 1116 1119 11332 124 125 126 127 1272 128 131 1312 1374 142 143 1543 1544 1545 1555 1557 1559 1571 1576 1577 1583 1591 1606 1635 1645 1646 1890 1942 207 217 2194 22914 23409 23583 239 240 246 2526 2539 2597 2632 2651 27036 27294 27306 27349 2739 28 2817 2820 284348 2878 3038 308 3099 31 3158 33 3383 3417 3418 353 3897 3939 3945 3965 4153 4360 4507 4595 4907 4968 4978 501 51196 51363 5160 51809 5209 5226 5287 5290 5291 5293 5294 5315 5320 5321 5333 54576 54658 54742 5552 55750 55799 55808 55902 5648 5652 56913 56994 570 57016 57103 5728 5742 5743 6185 6383 64083 6470 6472 6646 6713 684 7157 7167 7363 7367 7372 7374 7378 79623 79661 79679 7991 79947 80142 811 8277 8434 8505 8850 8877 8930 929 9536 960	Homo sapiens (human)
DOID:0111046	platelet-type bleeding disorder 10 Aliases: BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency	NAAA	27163	Homo sapiens (human)
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	ACAN SMUG1	176 23583	Homo sapiens (human)
DOID:10792	chronic maxillary sinusitis Aliases: chronic antritis	NT5E	4907	Homo sapiens (human)
DOID:2275	pharyngitis Aliases: Inflamed throat Persistent sore throat Pharyngeal disorder Pharyngitis - acute Sore throat - chronic acute pharyngitis acute sore throat chronic pharyn/nasopharyngitis chronic pharyngitis chronic pharyngitis and nasopharyngitis chronic sore throat	CYP2C19 GALNS PTGS2 UGCG	1557 2588 5743 7357	Homo sapiens (human)
DOID:0080480	peroxisome biogenesis disorder 5A Aliases: peroxisome biogenesis disorder 5A (Zellweger)	ACAN	176	Homo sapiens (human)
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	SYNJ1	8867	Homo sapiens (human)
DOID:5672	large intestine cancer	ABO ACACA ACACB ACADM ACAN ACAT1 ACE ACHE ACLY ACO2 ACOT7 ACOX1 ACSL1 ACSL4 ACSL5 ACSS2 ACYP2 ADH1B ADH1C ADH7 AFMID AGL AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C3 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 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 EXT2 EXTL3 FADS1 FADS2 FASN FBP1 FCGR3B FCN1 FCN2 FH FOLR1 FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT5 FUT6 FUT7 FUT8 FUT9 G6PD GAD2 GALK1 GALM GALNS GALNT11 GALNT12 GALNT14 GALNT15 GALNT1 GALNT3 GALNT4 GALNT6 GALNT7 GAPDH GAS1 GCDH 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 KL KLRC1 KLRK1 L1CAM LAYN LCT LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LMAN1 LPCAT2 LPCAT4 LPIN1 LPL LTA4H LTC4S LY6G6D LYPD5 MACROD1 MACROD2 MANBA MASP2 MBD4 MBL2 MCAT ME1 MECR MELTF MGAT4A MGLL MICA MINPP1 MMP25 MMUT MPG MRC1 MSLN MTM1 MTMR3 MTMR7 MUTYH NAAA NAMPT NANP NCAM1 NDST4 NEIL1 NEIL2 NEU1 NEU3 NT5E NTHL1 NTNG1 OGA OGDH OGDHL OGG1 OGT OLR1 OVGP1 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 SGMS1 SGMS2 SGPL1 SHMT1 SHMT2 SI SIGLEC6 SIGLEC7 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35G1 SLC39A8 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 TM7SF2 TMED3 TMED6 TMED9 TMTC1 TNKS 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 2132 2137 217 218 2180 2182 219 2194 220 2203 2215 2219 2220 2271 22854 22856 229 22914 22933 22934 23007 231 23175 23213 23236 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 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 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 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 64083 64116 64377 64386 64579 6470 6472 6476 6480 6484 6489 65078 6514 6515 6517 6518 6609 6646 6652 6713 6783 684 6996 7086 7087 7108 7167 7355 7364 7366 7367 7372 7374 7378 7412 762 781 7903 79154 7941 79603 79623 79661 79668 79679 79695 7991 79947 80142 80201 80328 8050 811 81544 8277 83857 8394 8398 8399 84076 8416 8434 84342 8460 847 84720 84725 8473 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:0060359	Sakati-Nyhan syndrome Aliases: ACPS with leg hypoplasia Sakati syndrome Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly Type III acrocephalopolysyndactyly type 3	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:7378	pituitary hypoplasia	SRD5A3	79644	Homo sapiens (human)
DOID:0110525	autosomal recessive nonsyndromic deafness 77 Aliases: DFNB77 autosomal recessive deafness 77	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:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)
DOID:0050689	brachydactyly-syndactyly syndrome	MBOAT1	154141	Homo sapiens (human)
DOID:3076	adult astrocytic tumor Aliases: adult astrocytic tumour adult astrocytoma	CHST15 ENPP1 IDH1 IDH2 LGALS3	3417 3418 3958 51363 5167	Homo sapiens (human)
DOID:5810	adenosine deaminase deficiency Aliases: ADA	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:120	female reproductive organ cancer Aliases: female reproductive cancer malignant Gynecologic tumor malignant neoplasm of female genital organ	AMT HPGDS MRC1 PIK3CA UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	27306 275 4360 5290 54575 54576 54577 54578 54657 54658	Homo sapiens (human)
DOID:3132	porphyria cutanea tarda	CYP1A1 CYP1A2 CYP2E1 HJV HPGDS HPSE KL PTEN SOAT1	10855 148738 1543 1544 1571 27306 5728 6646 9365	Homo sapiens (human)
DOID:5518	penis squamous cell carcinoma Aliases: Epidermoid cell carcinoma of penis	CD109 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	135228 5290 5291 5293 5294 5728	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:9123	eczema herpeticum Aliases: Herpes simplex dermatitis of eyelid Herpes simplex eyelid dermatitis Herpes simplex virus dermatitis herpes simplex dermatitis herpes simplex virus eyelid dermatitis	CD14 FCGR3B	2215 929	Homo sapiens (human)

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