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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 **4726 - 4750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	PIGS	94005	Homo sapiens (human)
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	NYX	60506	Homo sapiens (human)
DOID:0110347	osteogenesis imperfecta type 15 Aliases: OI15 osteogenesis imperfecta type XV	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0050425	restless legs syndrome Aliases: WED Willis-Ekbom disease Wittmaack-Ekbom syndrome	ADH1B ATRN CHKB CNTN3 CPT1B GLO1 L1CAM NANS	1120 125 1375 2739 3897 5067 54187 8455	Homo sapiens (human)
DOID:0080784	urinary tract infection Aliases: UTI	TLR2 TLR4	7097 7099	Homo sapiens (human)
DOID:0111412	exudative vitreoretinopathy 1 Aliases: EVR1	ACE CAT EPHX2 FCN2 HPSE ICAM1 LGALS1 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 TM7SF2 TMED5	10855 1636 2053 2220 27349 3383 3956 50999 5290 5291 5293 5294 57104 5716 7108 847	Homo sapiens (human)
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	ACACA ACSL4 AGA ALDH2 ALG13 APRT ARSD ATP6V1A B4GALT2 CD38 CDH13 CHPT1 CNTFR CNTN1 CNTN5 CNTN6 COMT CPT2 CYP2B6 CYP3A4 CYP4F3 DGKH DHDDS FADS1 FADS2 GAD1 GNE GNPAT GPC6 HK1 HPRT1 HSPG2 IL1RAPL1 LGALS3 LMAN2L MAN2A2 MANBA MBOAT7 NANS NCAM1 NCAN NTM OCRL PC PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGDS SCD SDHA SDHD SLC2A3 SLC39A8 SMC3 SMPD1 SMUG1 ST3GAL3 STS STT3A SYNJ1 THEM4 UST	10020 10082 10090 1012 11141 117145 1271 1272 1312 1376 1463 1555 1576 160851 175 217 2182 23583 2571 27255 3098 31 3251 3339 353 3703 3958 3992 4051 412 4122 4126 414 4684 4952 50863 5091 523 5290 5291 5293 5294 53942 54187 55300 5621 56994 5728 5730 6319 6389 6392 64116 6487 6515 6609 79143 79868 79947 81562 8443 8704 8867 9126 9415 952	Homo sapiens (human)
DOID:11719	oculopharyngeal muscular dystrophy Aliases: Muscular dystrophy, oculopharyngeal	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:0060706	X-linked lymphoproliferative syndrome 2 Aliases: XIAP deficiency XLP2	ALPI ALPP CD1D DPEP1 FUT1 HPGDS HPRT1 PLCG1	1800 248 250 2523 27306 3251 5335 912	Homo sapiens (human)
DOID:0060604	ankyloglossia Aliases: tongue-tie	EBP	10682	Homo sapiens (human)
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	ABO ACE AKR1B1 ALDH7A1 CD38 CYP1B1 DGKD GMDS GPNMB PLCE1 PMM2 PTGDS PTGS2 TNF	10457 1545 1636 231 2762 28 501 51196 5373 5730 5743 7124 8527 952	Homo sapiens (human)
DOID:0050861	colorectal adenocarcinoma	BRAF CD44 CYP24A1 CYP4F8 GSK3B TP53 TPST1	11283 1591 2932 673 7157 8460 960	Homo sapiens (human)
DOID:657	adenoma Aliases: acinar cell adenoma acinic cell adenoma adenomas	A4GALT A4GNT ABO ACACA ACAT1 ACE ACOT7 ACSL4 ACSL5 ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1B1 AKR1C2 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALOX12 ALOX12B ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 ANXA7 APRT ARSA ATP6AP2 B3GALT1 B3GALT5 BAAT C1GALT1 CALR CAT CBR1 CD109 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHPT1 CHST3 CHST5 CNTN1 COMT CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2C9 CYP2E1 CYP2R1 CYP3A5 CYP7B1 DAG1 DGKZ DHCR24 DHDDS DLD DPEP1 EFNA1 ENO1 ENO2 ENPP7 EPHX2 EXT1 FASN FCGR3B FDFT1 FOLR2 FUT4 FUT8 G6PC1 G6PD GAL3ST1 GALNS GALNT12 GALNT3 GALNT6 GCNT1 GFRA2 GGT1 GLUL GPC1 GPC3 GPNMB GPX1 GPX2 GPX3 GUSB HAS1 HAS2 HAS3 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B7 HSD3B1 HSPG2 HYAL2 ICAM1 IDH1 IDH2 IGF2R INPP4B ISYNA1 ITLN1 KL KLRK1 LDHA LDHB LGALS1 LGALS3 LGALS4 LMAN1 LPL LTA4H LYPD5 LYZ MBD4 MCAT ME1 MGAM MGAT5 MGLL MICA MMP17 MPG MRC1 MSLN MTAP MUTYH NAGLU NAMPT NCAM1 NEU1 NT5E NTHL1 OGG1 OLR1 OPCML PARP1 PCCA PCCB PDHX PDIA3 PFKFB3 PFKM PFKP PGAM1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB1 PLCB2 PLCB3 PLCB4 PLCE1 PLCG1 PNPLA2 PRKAA2 PRNP PSMD10 PTEN PTGES2 PTGES3 PTGES PTGIS PTGS1 PTGS2 QPRT RECK RGN SCD SDC1 SDC2 SDHB SDHC SELL SFTPA1 SFTPA2 SFTPC SFTPD SHMT1 SI SIRT2 SIRT4 SLC26A2 SLC2A10 SLC2A3 SLC2A4 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 SORD SPHK1 ST6GAL1 ST8SIA2 STS SULF2 TEX101 TKT TKTL1 TNFRSF10C TNKS2 TNKS TPI1 TYMP UGT1A1 UGT1A6 UGT2B17 UGT8 VCAM1 VCAN VTCN1	100507436 1012 10135 10159 10232 10317 10327 10457 1048 1056 10728 10855 1087 1113 1116 11226 11332 11343 120227 126 127 1272 131 1312 135228 142 1462 1543 1544 1545 1559 1571 1577 1583 1584 1585 1586 1588 1589 1591 1594 1604 1605 1636 1646 1718 1738 1800 1836 1890 1942 2023 2026 2053 2131 217 2182 219 2194 220 2215 2222 22914 22933 231 23236 23409 23475 2350 23563 23583 23600 239 240 242 247 2526 2530 2538 2539 2588 2591 2650 2675 2678 2719 27306 27349 2752 276 277 278 28 2817 283871 284348 2876 2877 2878 2923 2990 3036 3037 3038 308 31 310 3283 3290 3291 3292 3339 3383 339221 3417 3418 3482 353 38 3939 3945 3956 3958 3960 3998 4023 4048 4069 410 412 4199 4249 4326 4350 4360 4507 4595 4669 4680 4684 4758 4907 4913 4968 4973 4978 5095 5096 51146 51196 51477 51478 51703 5209 5213 5214 5223 5226 5290 5291 5293 5294 5315 5320 5321 5329 5330 5331 5332 5335 53947 54578 54658 55600 5563 55959 5621 56913 56994 570 57016 57104 5716 57214 5728 5740 5742 5743 60495 6319 6382 6383 6390 6391 6402 6440 6441 6470 6476 6480 6515 6517 6523 653509 6646 6652 7086 7167 729238 7367 7368 7412 79679 79695 79947 80142 80351 8050 81031 811 8128 8277 83639 8398 8399 8434 847 8525 8644 8658 8692 8708 873 8794 8821 8877 8930 8972 9104 9126 9197 9365 9420 9469 9514 9536 960 972	Homo sapiens (human)
DOID:9408	acute myocardial infarction	ABO ACACA ACACB ACE ACHE ACOT7 ACSL1 ACSL5 ACSL6 ACSS1 ACSS2 ADH1B ADH1C ADH5 AGPAT2 AKR1A1 AKR1D1 ALDH2 ALOX12 ALOX15 ALOX5 ANXA5 ANXA7 APRT ARSA ATP6AP2 B3GNT2 BAAT CALR CANX CAT CD14 CD44 CD93 CDH13 CEACAM5 CEACAM7 CHAT CHGA CHI3L1 CLEC16A CLEC4E CLEC6A COMT CPT1A CPT1B CPT2 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2J2 CYP2R1 CYP3A4 CYP4A11 CYP4F2 CYP4F3 CYP7A1 DAG1 DCN DEGS1 DGCR2 DGKA DGKZ DHCR24 DLD EFNA1 ELOVL2 ELOVL4 ELOVL5 ELOVL6 ENO1 ENO2 ENPP1 EPHX2 FADS2 FBP1 FCGR3B FCN1 FCN2 FCN3 FOLR1 FOLR2 FUT4 FUT7 G6PD GAL3ST1 GFPT2 GGT1 GLA GLO1 GPI GPLD1 GPNMB GPX1 GPX3 GSK3B GYS1 HADH HK2 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 ICAM1 IGF2R IL18R1 IL1RL1 ISYNA1 ITPK1 KL KLRK1 LARGE2 LCAT LCT LDHA LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPL LTA4H LTC4S MAG MASP1 MBL2 MDH2 MGLL MICA MPI MTAP NAMPT NANS NCAM1 NDST1 NEIL3 NT5E NTM OGA OGG1 OLR1 PARP1 PC PCYT1A PDHB PIGA PIGQ PIK3C2A PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCB2 PLCB3 PLCG1 PLD1 PLPP3 PMM2 PNPLA2 POFUT1 PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 PYGB RENBP SDC1 SDC4 SDHB SELE SELL SELP SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A4 SLC33A1 SLC35A1 SLC3A1 SLC5A1 SMPD1 SMPD2 SMPD4 SMUG1 SOAT1 SPTLC2 ST3GAL4 ST6GALNAC1 SULT1E1 TBXAS1 TM7SF2 TMED5 TMTC3 TNF UGGT2 UGT1A1 VCAM1 VCAN XYLT2	100507436 1012 10135 10159 10327 10457 1048 10555 10559 10678 10724 10855 1087 1103 1113 1116 11332 11343 120071 120227 125 126 128 1312 1374 1375 1376 142 1462 151056 1543 1544 1545 1555 1557 1558 1559 1573 1576 1579 1581 1584 1585 1586 1588 1593 160418 1605 1606 1634 1636 1718 1738 1942 2023 2026 2053 217 2180 2203 2215 2219 2220 22914 22918 22933 23236 23274 23305 23409 2348 2350 23509 23583 23659 239 240 246 2526 2529 2539 26253 2678 2717 27306 2739 28 2821 2822 2876 2878 2932 2997 3033 308 3099 31 310 32 3290 3291 3340 3383 3482 353 3705 3931 3938 3939 3956 3957 3958 3988 3990 4023 4048 4051 4056 4099 410 4153 4191 43 4351 4507 4684 4907 4968 4973 50487 50863 5091 50999 5130 51477 51548 5162 5167 51703 5277 5286 5288 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5330 5331 5335 5337 5373 54187 54658 54898 55247 55627 5563 55757 55808 55902 5621 5648 570 57104 5716 5728 5730 5740 5742 5743 5834 5973 60481 60495 6382 6385 6390 6401 6402 6403 64132 6484 6517 6519 6523 6609 6610 6646 6718 6783 6785 6916 7108 7124 7412 79071 7941 81031 811 821 8398 84532 847 8525 8529 8547 8560 8613 8809 9091 9173 9197 929 9365 9388 93978 9415 9514 9517 9536 960 9945 9993	Homo sapiens (human)
DOID:2883	prostatic adenoma Aliases: adenoma - prostate adenoma of prostate benign adenoma of prostate prostate adenoma	ACE ACSS2 AKR1B10 ALDH7A1 ALOX12 ALOX15 ALOX15B ALOX5 AMACR ANXA7 CANX CAT CD177 CD44 CHIT1 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 UMPS VCAN	10855 1118 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 7372 79071 821 8434 847 9197 960	Homo sapiens (human)
DOID:0111910	spermatogenic failure Aliases: SPGF	PDHA2	5161	Homo sapiens (human)
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	ACE AKR1A1 AKR1B10 ALDH1A3 ALDOA ALOX15 ALOX5 ALPI ALPP ANXA4 ANXA5 APRT ARSA BRAF CALR CAT CBR1 CD14 CD44 CD55 CEACAM5 CEACAM6 CEACAM7 CRYL1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 CYP7A1 ENO1 FBP1 FCGR3B FUT1 FUT2 FUT3 GALNS GGT1 GLUL GNE GPC1 GPC3 H6PD HK2 HPSE HSPG2 ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 ME1 MRC1 MSLN MUTYH NCAM1 NEIL1 NEU1 NT5E OGG1 OPCML PARP1 PCYT1A PDHA1 PFKP PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G4A PSMD10 PTEN PTGES PTGS2 RECK SDC1 SDC2 SGMS1 SHMT2 SIRT2 SMUG1 SPHK1 SPHK2 STS UGDH UGT1A10 UGT2B11 UMPS VTCN1	10020 10232 10327 1048 10720 10855 1087 142 1543 1544 1581 1586 1588 1591 1594 1604 1636 2023 220 2203 2215 226 22914 22933 23583 240 246 248 250 2523 2524 2525 2588 259230 2678 2719 2752 2817 307 308 3099 3339 3383 3417 3418 3482 353 3897 3939 3956 3958 3965 410 412 4199 4360 4595 4680 4684 4758 4907 4968 4978 51084 5130 5160 5214 5290 5291 5293 5294 5311 5315 5321 54575 56848 57016 5716 5728 5743 6382 6383 6472 673 7358 7372 79661 79679 811 8434 847 873 8877 929 9536 9563 960	Homo sapiens (human)
DOID:0070460	hereditary spastic paraplegia 90B Aliases: SPG90B autosomal recessive spastic paraplegia 90B	SPTSSA	171546	Homo sapiens (human)
DOID:2729	dyskeratosis congenita Aliases: DKCD	GALNT3 GOLPH3 HPSE2 TECR TP53	2591 60495 64083 7157 9524	Homo sapiens (human)
DOID:0090042	torsion dystonia 17	ALDH5A1	7915	Homo sapiens (human)
DOID:4851	pilocytic astrocytoma Aliases: Piloid astrocytoma grade I Astrocytic tumor	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:0090080	hypogonadotropic hypogonadism 16 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	ACAN SMUG1	176 23583	Homo sapiens (human)
DOID:14308	skin epithelioid hemangioma Aliases: Angiolymphoid Cutaneous hyperplasia epithelioid hemangioma of skin	LGALS9 SMUG1	23583 3965	Homo sapiens (human)
DOID:0111132	focal segmental glomerulosclerosis 7 Aliases: FSGS7	ACE	1636	Homo sapiens (human)

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