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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 **676 - 700** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:2214	obsolete inherited blood coagulation disease	ACOT7 AKR1D1 ALDOB AMACR ARSA BAAT CAT CD14 CLEC1B COG4 CYP7B1 DDOST ENO1 ENPP2 GOLPH3 HPSE HSD3B7 LGALS3 LMAN1 MCFD2 MPI NAAA PC PIK3CA PLA2G4A PLB1 PTGS1 RFT1 SDC1 SELP	10855 11332 151056 1650 2023 229 23600 25839 27163 3958 3998 410 4351 5091 51266 5168 5290 5321 570 5742 6382 6403 64083 6718 80270 847 90411 91869 929 9420	Homo sapiens (human)
DOID:0110336	osteogenesis imperfecta type 8 Aliases: OI8 osteogenesis imperfecta type VIII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:12549	hepatitis A Aliases: Viral hepatitis, type A	ACE ACOT7 AKR1D1 ALDH2 CALR CAT CD1D COLGALT2 CYP19A1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 DLAT ECHS1 EXT1 FUT8 G6PD GOLPH3 GPC3 HAS1 HAS3 HPGDS KLRB1 KLRC1 KLRK1 LGALS1 LGALS3 LGALS9 MICA MRC1 NAMPT NCAM1 OGG1 PARP1 PARP2 PTGES PTGS2 SGMS1 SLC17A5 TIPARP TNF UGT1A1 UMOD	10038 100507436 10135 11332 142 1555 1557 1559 1571 1588 1593 1636 1737 1892 2131 217 22914 23127 2530 2539 259230 25976 26503 2719 27306 3036 3038 3820 3821 3956 3958 3965 4360 4684 4968 54658 5743 64083 6718 7124 7369 811 847 912 9536	Homo sapiens (human)
DOID:0070111	Niemann-Pick disease type A	CHIT1 GBA1 SMPD1	1118 2629 6609	Homo sapiens (human)
DOID:0090041	torsion dystonia 4	ALDH5A1	7915	Homo sapiens (human)
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	ARSA B3GAT1 CD38 CD44 CEACAM5 CHSY1 CYP2E1 DCN G6PD HMMR IL1R1 LGALS1 NCAM1 PARP1 PARP2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 RECK SIGLEC7 SMUG1 SOAT1 STS TP53 VCAN	10038 1048 142 1462 1571 1634 22856 23583 2539 27036 27087 3161 3554 3956 410 412 4684 5290 5291 5293 5294 5621 5728 5743 6646 7157 8434 952 960	Homo sapiens (human)
DOID:758	situs inversus Aliases: Complete transposition Laterality sequence situs inversus viscerum	ABO ACAN ACE ACHE ACSM3 ACSS2 ADH1B ADH1C AKR1C1 AKR1C4 AKR1D1 ALDH1A3 ALDH2 ALG9 ALOX5 ALPP AMACR ANXA5 APRT ARSD ARSH ATRNL1 B3GAT3 CANX CAT CBR1 CD109 CD44 CEACAM5 CEACAM7 CFC1 CH25H CHAT CHST14 CLEC1B CYP17A1 CYP1A2 CYP1B1 CYP2B6 DAG1 DCN DGKK DHCR24 DHCR7 DOLK EBP ENOSF1 EXT2 FBP1 FCGR3B FCN2 FIG4 FUT2 G6PC3 GAL3ST1 GAS1 GCK GLDC GLUL GPC3 GPC5 HEXD HPRT1 ICAM1 IDH1 IDS IL1RAPL1 INPP4A INPP5D KLRC1 LFNG LIPA MAG MASP1 MLYCD MRC1 NAAA NDUFAB1 NEU1 OGA OGG1 PAFAH1B1 PAPSS2 PDHA2 PGAP3 PGD PGM1 PIGA PIGN PIGO PIGP PIGT PIGV PIGY PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLB1 PLCD1 PMM2 POMT1 POMT2 PRKAA2 PRKCSH PRNP PSAP PTEN PTGDS PTGS1 PTGS2 SC5D SCD SDC2 SDHB SGPL1 SHMT1 SIGLEC1 SIGLEC7 SIRT6 SLC33A1 SLC35A1 SLC35A3 SLC3A1 SMC3 SRD5A3 SULT1E1 TECR TGDS TMEM165 VCAN	1048 10559 10585 10682 10724 1087 1103 1109 11141 113189 125 126 135228 139189 1462 151056 1544 1545 1555 1586 1605 1634 1636 1645 1717 1718 176 2132 217 220 2203 2215 2220 2262 22845 23417 23443 23483 23556 23600 23659 240 250 2524 26033 2619 26229 2645 27036 27163 2719 2731 2752 28 284004 29954 308 3251 3383 3417 3423 347527 353 3631 3635 3821 3955 3988 4099 414 43 4360 4706 4758 4968 5048 51227 51266 51548 51604 5161 5226 5236 5277 5289 5290 5291 5293 5294 5310 5311 5333 5373 55556 5563 55650 55858 5589 55902 55997 5621 5648 5660 5728 5730 5742 5743 6296 6309 6319 6383 6390 6470 6519 6614 6718 6783 79644 79796 821 847 84720 84992 873 8879 9023 9060 9126 9197 92579 93210 9514 9524 960 9896	Homo sapiens (human)
DOID:11612	polycystic ovary syndrome Aliases: Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary	ACACA ACAN ACE ADIPOQ ADRB3 AGPAT2 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKT2 ALDH1A3 ANXA5 APRT ARSD BAAT CAT CD44 CHST3 COMT CPT1A CPT2 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP21A2 CYP2B6 CYP2R1 CYP51A1 DCN DHCR7 DHRS11 ENPP1 FADS1 FADS2 FBXO44 FUT7 G6PC1 GGT1 GPX1 GPX3 GYS2 H6PD HACD1 HAS1 HAS2 HAS3 HMMR HPGDS HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 ICAM1 IL1R1 ISYNA1 ITLN1 LALBA LCT LGALS3 LPCAT2 LPIN1 LPL MANEA MELTF MGAT5B MIOX MPG NAMPT NANS NEIL2 PAFAH1B1 PAPSS2 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLAUR PNPLA2 PNPLA3 PPT1 PRKAA2 PTEN PTGS2 RENBP SCD SFTPC SLC2A4 SLC33A1 SLC35G1 SLC37A4 SRD5A1 SRD5A2 STS SULT1E1 VCAM1 VCAN	10135 10555 120227 1312 1374 1376 1462 146664 1543 1545 155 1555 1583 1584 1586 1588 1589 159371 1595 1634 1636 1645 1646 1717 176 208 220 231 23175 2529 252969 2538 2542 2678 27306 2876 2878 2998 3036 3037 3038 308 31 3161 3283 3284 3290 3291 3292 3294 3295 3383 353 3554 3906 3938 3958 3992 4023 412 414 4241 4350 5048 51477 51478 5167 5290 5291 5293 5294 5310 5329 54187 54947 5538 55586 55600 5563 570 57104 5728 5743 5973 6319 6440 6517 6715 6716 6783 7412 79154 7941 79694 80339 847 8630 8644 9060 9197 9200 93611 9370 9415 9469 9563 960	Homo sapiens (human)
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	SLC25A13	10165	Homo sapiens (human)
DOID:0110346	osteogenesis imperfecta type 10 Aliases: OI10 osteogenesis imperfecta type X	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	ABAT ABO ACADM ACADS ACADSB ACAT1 ACE ACHE ACO2 ACOT7 ACOX1 ACSM3 ADPRS AGA AGPS AGRN AKR1C3 ALDH3A2 ALDH5A1 ALDH6A1 ALDH7A1 ALDOB ALG11 ALG13 ALG1 ALG2 ALG3 ALG6 ALG9 ALOX15 ALPL AMACR AMT APRT ARSA ARSD ASAH1 ATP1A2 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GLCT BCKDHA BCKDHB CACNA2D1 CACNA2D2 CAT CD38 CD44 CHAT CHI3L1 CHKA CHKB CLC CLEC7A CLN5 CNTN2 CNTN4 CNTN6 COG2 COG5 COG6 COG8 COLGALT1 COMT CPT1A CPT2 CRPPA CTSA CYB5R3 CYP11A1 CYP19A1 CYP1A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP4F3 DAG1 DBT DDOST DEGS1 DGCR2 DGKD DGKE DHCR24 DHDDS DLD DPAGT1 DPM2 EBP ECHS1 ELOVL4 ENO2 EOGT EPM2A ETNK1 ETNK2 EXT1 EXT2 FBP1 FCSK FDFT1 FH FIG4 FKRP FKTN FOLR1 FUCA1 FUT8 G6PC1 G6PD GAD1 GAD2 GALC GAPDH GAS1 GCDH GCK GCSH GLA GLB1 GLDC GLO1 GLUL GLYCTK GM2A GMPPA GMPPB GNE GNS GPAA1 GPC1 GPC3 GPX1 GYS2 HACD1 HADHA HADHB HEXA HEXB HGSNAT HIBCH HK1 HMGCL HMGCS2 HPGDS HPRT1 HS6ST1 HSD17B4 HSPG2 ICAM1 IDH1 IDH2 IDS IMPA1 INPP5E INPP5K ISYNA1 KL L1CAM L2HGDH LARGE1 LGALS3 LMAN2L LPL LSS MAN1B1 MANBA MBL2 MBOAT7 MCAT MDH2 ME1 ME2 MGAT1 MGAT2 MGLL MICA MLYCD MMUT MOGS MPI MRC1 MTM1 MYORG NAGA NAGLU NANS NDST1 NEU1 NGLY1 NPL NRN1L NSDHL NT5E NTNG1 OCRL OGA PAFAH1B1 PARP1 PC PCCA PCCB PCK1 PCYT1A PDHA1 PDHX PDIA3 PGAP1 PGAP3 PGK1 PGM3 PIGA PIGB PIGC PIGG PIGH PIGL PIGM PIGN PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB1 PLCG1 PLD1 PLD2 PMM2 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRNP PRPS1 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 RECK RFT1 RGMA RPIA RXYLT1 SACM1L SC5D SDHA SDHC SDHD SEMA7A SGPL1 SGSH SHMT1 SIGLEC7 SLC17A5 SLC2A3 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC35F1 SLC35G1 SLC39A8 SLC3A1 SMC3 SMUG1 SRD5A3 ST3GAL3 ST8SIA2 STS STT3B SUCLA2 SUCLG1 SUMF1 SYNJ1 TECR TGDS TIGAR TMED9 TMTC3 TNF TPI1 TUSC3 UGCG UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B15 UGT2B7 UGT8 VCAM1	10020 100507436 10159 10195 10329 10466 10559 10585 10682 10724 10908 1103 1116 1119 1120 11253 11332 11343 1178 1203 123904 128869 1312 132158 1374 1376 138050 142 145173 148789 152330 1543 1544 1555 1557 1559 1571 1576 1577 1583 1588 1593 159371 160418 1605 1629 1636 1650 1718 1727 1738 175 1798 18 1892 197258 201595 2026 2131 2132 2203 2218 2222 222553 224 2271 22796 22854 229 22908 22934 23236 23417 23443 2348 23483 23545 23556 23583 23600 246 249 2517 2530 2538 2539 2571 2572 2581 2597 2619 26275 2639 2645 26503 2653 27036 2717 2719 2720 27255 27306 2731 27349 2739 275 2752 2760 2799 28 2817 284098 285203 285362 2876 2923 29925 29926 29929 29954 2998 3030 3032 3073 3074 3098 3155 3158 3251 3295 3339 3340 3383 34 3417 3418 3423 35 353 36 3612 375790 38 3897 3958 4023 4047 4051 410 412 4126 414 4153 4191 4199 4200 4245 4247 427 43 4329 4351 4360 440138 4534 4594 4668 4669 4758 477 4907 4952 50 501 5048 50814 5091 5095 5096 51 5105 51227 5130 51477 5160 51604 51763 523 5230 5238 5277 5279 5283 5290 5291 5293 5294 5310 5319 5320 5321 5329 5335 5337 5338 5373 54187 54575 54576 54577 54578 54579 54600 54657 54658 54659 54732 5476 54872 54936 55224 5538 55500 55624 55650 55768 56052 5621 5631 5660 56623 56886 56963 57103 5716 5728 5742 5743 57462 57511 593 594 6296 6309 6389 6391 6392 64116 6448 64581 6470 6487 6515 6519 6785 6900 7124 7167 729920 7355 7357 7364 7366 7368 7412 781 7841 79143 79147 7915 7957 79644 79709 79796 79868 7991 79944 79947 80055 8050 80896 8128 81562 8398 8399 84197 8434 84342 847 8482 84892 84992 8526 8527 85365 8540 8560 8644 8733 8802 8803 8818 8867 8879 9091 9126 91869 9197 9200 9215 9254 93183 93210 9365 9394 94005 9487 9488 952 9524 9536 960 9896 9993	Homo sapiens (human)
DOID:308	early myoclonic encephalopathy Aliases: Epileptic seizures - myoclonic Epileptic seizures, myoclonic Myoclonic seizure Myoclonic seizure disorder myoclonia epileptica myoclonic epilepsy	ALDH7A1 AMT ARSA ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS EPM2A GBA1 GCSH GLDC GLYCTK HEXB HIBCH HMGCL INPP4A ISYNA1 MECR NAGA NEU1 NGLY1 PFKL PGAP2 PGAP3 PIGA PIGL PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1 TMED9	10715 1203 132158 1557 1593 23236 26275 2629 2653 2731 27315 275 284098 3074 3155 3631 410 427 4668 4758 501 51102 51227 51477 5211 523 5277 5286 54732 5538 55624 55650 55768 5621 5660 6309 6389 6392 6487 6900 7957 79947 8398 84342 84720 84992 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:0110720	neuronal ceroid lipofuscinosis 4 Aliases: CLN4B disease autosomal dominant neuronal ceroid lipofuscinosis 4B neuronal ceroid lipofuscinosis 4 Parry type neuronal ceroid lipofuscinosis 4B	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:3304	germinoma	ACE AKR1C1 AKR1C3 ALPP AMACR ATRNL1 BRAF CALR CD44 CLEC10A CYP19A1 DHDH GOLPH3 GPC3 HPGDS IDH2 LGALS3 LIPG LPL PARP1 PCYT1A PIGF PIK3CA PIK3CB PIK3CD PIK3CG PRSS21 PSMD10 PTEN SLC2A3 SMUG1 TKTL1	10462 10942 142 1588 1636 1645 23583 23600 250 26033 2719 27294 27306 3418 3958 4023 5130 5281 5290 5291 5293 5294 5716 5728 64083 6515 673 811 8277 8644 9388 960	Homo sapiens (human)
DOID:0080031	fibrous dysplasia	APRT B3GAT1 PTGS2 SMUG1	23583 27087 353 5743	Homo sapiens (human)
DOID:0060390	distal 10q deletion syndrome Aliases: chromosome 10q26 deletion syndrome distal monosomy 10q monosomy 10qter telomeric deletion 10q terminal chromosome 10q26 deletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:12550	hepatic coma Aliases: Hepatocerebral intoxication	CD14 DLD G6PD GLUL ISYNA1 PCK1 PTGS1 SMUG1 STS	1738 23583 2539 2752 412 5105 51477 5742 929	Homo sapiens (human)
DOID:14261	fragile X syndrome Aliases: FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME	ALPI ALPP APRT ARSD CAT CD44 DGKK DLD G6PD HSPG2 ICAM5 IDS INPP5K LGALS4 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SDC2 ST8SIA4	139189 1738 248 250 2539 3339 3423 353 3960 414 51763 5226 5290 5291 5293 5294 5335 5728 6383 7087 7903 847 960	Homo sapiens (human)
DOID:0050562	West syndrome	ABAT ALG13 CACNA2D1 HIBCH HSD17B4 NGLY1 PAFAH1B1 PDHA1 PIGA PIGP PIGQ PIGW PLCB1 PMM2 RFT1 SLC35A2 ST3GAL3	18 23236 26275 284098 3295 5048 51227 5160 5277 5373 55768 6487 7355 781 79868 9091 91869	Homo sapiens (human)
DOID:0060305	megalocornea Aliases: anterior megalophthalmos congenital anterior megalophthalmia	FKRP FKTN GMPPB GNPTAB LARGE1 POMGNT1 POMK POMT1 POMT2 SLC2A10	10585 2218 29925 29954 55624 79147 79158 81031 84197 9215	Homo sapiens (human)
DOID:0112147	retinitis pigmentosa 90 Aliases: RP90	IDH3A	3419	Homo sapiens (human)
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	DAG1	1605	Homo sapiens (human)
DOID:0060840	isolated microphthalmia 1 Aliases: MCOP1	ALDH1A3	220	Homo sapiens (human)
DOID:13945	CADASIL Aliases: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy hereditary multi-infarct dementia	CTSA DCN	1634 5476	Homo sapiens (human)
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	RPE	6120	Homo sapiens (human)

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