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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 **4301 - 4325** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:5378	hemoglobin D disease Aliases: Hb-D disease	ABO FUT1 G6PD NT5E SCD UGT1A1	2523 2539 28 4907 54658 6319	Homo sapiens (human)
DOID:0090119	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Aliases: AEC syndrome Hay-Wells syndrome ankyloblepharon-ectodermal defects-cleft lip and palate syndrome	ACACA ANXA5 CD38 DHCR7 G6PD GOLPH3 PGK1 PTEN PTGS2 SFTPC	1717 2539 308 31 5230 5728 5743 64083 6440 952	Homo sapiens (human)
DOID:0060484	EAST syndrome Aliases: SeSAME syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance	PI4KB	5298	Homo sapiens (human)
DOID:0060550	ablepharon macrostomia syndrome	ACE	1636	Homo sapiens (human)
DOID:5742	pancreatic acinar cell adenocarcinoma Aliases: pancreatic acinar cell carcinoma	BRAF	673	Homo sapiens (human)
DOID:9602	necrotizing fasciitis	GALNS RECK	2588 8434	Homo sapiens (human)
DOID:8456	choline deficiency disease Aliases: choline deficiency	MLYCD PEMT	10400 23417	Homo sapiens (human)
DOID:12679	nephrocalcinosis	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)
DOID:5577	gastrinoma Aliases: Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma	CD44 CHGA PYGM SIGLEC7 SLC2A2	1113 27036 5837 6514 960	Homo sapiens (human)
DOID:4007	bladder carcinoma Aliases: carcinoma of urinary bladder	ABO ACHE ACSS1 ACSS2 ADH1B ADH1C AGL AGPAT4 AKR1A1 AKR1B10 AKR1C1 AKR1C3 AKR1C4 ALDH2 ALOX5 ALPI ALPP AMACR APRT B4GALT1 B4GALT3 BCAN BST2 CALR CAT CD14 CD44 CD74 CDH13 CEACAM5 CEACAM7 CERS2 CHGA CHPT1 CNTN2 COMT CPT1B CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP3A4 CYP3A5 DCN DHCR24 DHDDS EBP ECHDC1 EFNA1 ENO1 ENO2 ENPP2 FASN FH FUT4 G6PD GAPDH GAS1 GLB1 GLO1 GOLPH3 GPAA1 GPNMB GPX1 GPX2 GUSB HAS1 HAS2 HK1 HMMR HPGDS HPSE2 HPSE HS3ST3B1 HSD3B1 HSD3B2 HYAL1 ICAM1 IGF2R IL18R1 INPP4A INPP4B INPP5K ISYNA1 KL LDHA LDHB LGALS1 LGALS3 LGALS4 LY6K MAN1B1 MBD4 MCAT MRC1 MUTYH NAAA NAMPT NCAN NT5E OGG1 OPCML PARP1 PEMT PFKFB3 PFKFB4 PGAM1 PGM5 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLAUR PLCE1 PNP PNPLA2 PRKAA2 PRSS8 PTEN PTGIS PTGS1 PTGS2 RECK RENBP SCD SDC1 SDHB SELL SHMT1 SIGLEC1 SIRT2 SIRT6 SLC2A3 SLC35A2 SMUG1 SOAT1 SORD SPAM1 SPHK1 ST3GAL1 ST6GAL1 ST6GALNAC1 STS TM7SF2 TNFRSF10C TNKS TYMP UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMOD UMPS VCAN VTCN1 XYLT2	1012 10135 10327 10400 10457 1048 10682 10855 1087 1109 1113 11253 125 126 128869 1312 1375 142 1462 1463 1543 1544 1545 1555 1557 1571 1576 1577 1588 1593 1594 1634 1645 1718 178 1890 1942 2023 2026 217 2194 2271 22933 23583 23600 240 248 250 2526 2539 2597 2619 2683 27163 2720 27306 27349 2739 28 2876 2877 2990 29956 3036 3037 3098 3161 3283 3284 3373 3383 3482 353 3631 3939 3945 3956 3958 3960 412 43 4360 4595 4860 4907 4968 4978 51196 51477 51548 5168 51763 5209 5210 5223 5239 5289 5290 5291 5293 5294 5311 5315 5329 54575 54576 54577 54578 54600 54658 54742 5563 55808 55862 55902 5652 56895 56994 57016 57104 5728 5740 5742 5743 5973 60495 6319 6382 63827 6390 6402 64083 64132 6470 6480 6482 6515 6614 6646 6652 6677 684 6900 7108 7355 7364 7369 7372 79679 79947 811 8434 84532 847 8644 8658 8703 8733 8794 8809 8821 8877 8930 929 9365 960 972 9953	Homo sapiens (human)
DOID:12098	trigeminal neuralgia Aliases: Trifacial neuralgia trifocal neuralgia	ACLY DHCR24 PARP1 PRNP	142 1718 47 5621	Homo sapiens (human)
DOID:0110823	hereditary spastic paraplegia 8 Aliases: SPG8 autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:3429	inclusion body myositis	ACLY ACOT7 CAT CD38 CD44 CHST3 CYP11A1 CYP17A1 CYP2C19 DAG1 DCN GNE HK1 ICAM1 ISYNA1 PAFAH1B1 PRNP PTEN RENBP SDC1 SIRT2	10020 11332 1557 1583 1586 1605 1634 22933 3098 3383 47 5048 51477 5621 5728 5973 6382 847 9469 952 960	Homo sapiens (human)
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	ACADVL ACE CAT CYP21A2 HADHA MAN1B1 OTOA SERPINA12 UGGT1	11253 145264 146183 1589 1636 3030 37 56886 847	Homo sapiens (human)
DOID:14686	Axenfeld-Rieger syndrome Aliases: Anomaly, Rieger's Axenfeld syndrome RGS - Rieger syndrome Rieger's anomaly	B3GLCT CRPPA CYP1B1 FKRP FKTN LARGE1 POMT1 POMT2 PTGDS	10585 145173 1545 2218 29954 5730 729920 79147 9215	Homo sapiens (human)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	PIGV	55650	Homo sapiens (human)
DOID:1572	normal pressure hydrocephalus Aliases: Low pressure hydrocephalus	ACE ALDH3A2 MLYCD NCAN PRNP PSMD10 SMUG1 UMOD	1463 1636 224 23417 23583 5621 5716 7369	Homo sapiens (human)
DOID:4647	trilateral retinoblastoma	APRT CBR3 CD44 CDH13 CEACAM5 CEACAM7 CEMIP EBP EFNA2 ENO1 ENO2 FASN FOLR1 FUT7 GLB1 GPC6 GPI HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS3 LIPG MICA MMUT MPG MTAP NCAM1 PGP PIGF PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 PTEN PTGES3 PTGS2 RPE SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 5716 57214 5728 5743 6120 6646 80328 874 8803 9388 960	Homo sapiens (human)
DOID:3660	wheat allergy Aliases: allergy to wheat wheat allergic reaction	ENPP3 HACD1	5169 9200	Homo sapiens (human)
DOID:6595	gastric tubular adenocarcinoma Aliases: tubular adenocarcinoma of stomach	CBR1 PTGS2	5743 873	Homo sapiens (human)
DOID:768	retinoblastoma Aliases: RB RB - Retinoblastoma neuroblastoma of Retina	APRT ASAH1 CBR3 CD177 CD44 CDH13 CEACAM5 CEACAM7 CEMIP CYP24A1 CYP27B1 EBP EFNA2 ENO1 ENO2 FASN FOLR1 FUT7 GLB1 GPC6 GPI HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS3 LIPG MICA MMUT MPG MTAP NCAM1 PGP PIGF PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 PTEN PTGES3 PTGS2 RENBP RPE SDHD SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1591 1594 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 427 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 57126 5716 57214 5728 5743 5973 6120 6392 6646 80328 874 8803 9388 960	Homo sapiens (human)
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	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:0060867	macrocephaly-autism syndrome Aliases: macrocephaly-intellectual disability-autism syndrome	PTEN	5728	Homo sapiens (human)
DOID:8927	learning disability Aliases: Academic skill disorder learning disorder	ACAT1 ACER3 ACHE ACSL4 ADPRS AGA AGPAT2 AGRN ALDH3A2 ALDH5A1 ALDH7A1 ALDOB ALG11 ALG13 ALG14 ALG2 ALG9 ALOX12B AMT AMY1A AMY1B AMY1C ARSA ARSD ARSI ASAH1 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GALT6 B3GLCT B4GALNT1 BCKDHA BCKDHB CA4 CACNA2D1 CALR CAT CD38 CERS1 CHAT CLN5 CMAS CNTN2 CNTN4 CNTN6 COG5 COG6 COG8 COLEC10 COLEC11 COMT CRPPA CTSA CYB5R3 CYP24A1 CYP27A1 CYP2U1 DAG1 DBT DCN DGCR2 DHCR24 DHCR7 DLD DPAGT1 EBP ENOSF1 EOGT EPM2A EXT1 EXT2 EXTL3 FASN FBP1 FCN2 FCSK FDFT1 FKRP FKTN FUCA1 FUT8 G6PC3 G6PD GAD1 GALT GAS1 GBA2 GBE1 GCK GCSH GGT1 GK GLB1 GLDC GLYCTK GMPPA GMPPB GNPAT GNPTAB GNS GPAA1 GPC3 GPC6 GPD2 GPI GUSB HACD1 HADH HADHA HADHB HEXA HGSNAT HK1 HMGCL HPRT1 HS6ST2 HSD17B12 IDH1 IDH2 IDH3A IDH3B IDS IDUA IL1RAP IL1RAPL1 IMPA1 INPP5E INPP5K KDSR KL L1CAM L2HGDH LARGE1 LDHA LDHD LFNG LSS MACROD2 MAG MAN1B1 MAN2B1 MAN2C1 MANBA MASP1 MBOAT7 MMUT NAGA NAGLU NANS NDST1 NEU1 NSDHL NTNG1 OCRL OGT PAFAH1B1 PAFAH1B3 PAPSS2 PARP1 PC PCCA PCCB PCYT1A PDHA1 PDHX PDIA3 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PIGA PIGB PIGC PIGG PIGL PIGN PIGO PIGP PIGQ PIGU PIGV PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLCH2 PMM2 PNP PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRPS1 PTDSS1 PTEN RENBP RXYLT1 SC5D SDHA SDHB SDHC SDHD SGSH SLC17A5 SLC2A10 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC39A8 SMC3 SRD5A3 ST3GAL3 ST3GAL5 STS STT3B SUCLG1 SULT1E1 SUMF1 SYNJ1 TECR TKT TMTC3 TNFRSF10C TPI1 TUSC3 TYMP UGCG UMPS XYLT1 XYLT2	10082 10159 10329 10466 10555 10559 10584 10585 10682 10715 10908 1103 11141 11253 113612 1203 126792 128869 1312 132158 138050 140733 142 145173 148789 152330 1591 1593 160418 1605 1629 1634 1717 1718 1727 1738 175 1798 1890 197257 197258 199857 201595 2131 2132 2137 2182 2194 2203 2218 2220 2222 224 22854 229 23443 23545 23556 242 2517 2530 2531 2539 2571 2583 2592 2619 2632 2645 26503 2653 2678 2710 2719 2720 27255 2731 27315 275 276 277 278 2799 2820 2821 284098 285203 285362 2923 2990 29925 29926 29954 3030 3032 3033 3073 3098 3155 3251 3340 340075 3417 3418 3419 3420 3423 3425 3556 3612 375790 38 3897 3939 3955 4047 4099 410 412 4123 4125 4126 414 427 43 440138 4594 4668 4669 4758 4860 4952 501 5048 5050 50814 5091 5095 5096 51144 51227 5130 5160 51763 523 5230 5238 5277 5279 5290 5291 5293 5294 5373 54187 5476 54872 54936 55331 5538 55556 55624 55650 55907 5631 5648 56623 5728 57511 57704 593 594 5973 6309 6389 6390 6391 6392 64116 64131 64132 6448 6487 6783 6900 7086 7167 729920 7355 7357 7372 762 781 78989 79143 79147 7915 79158 7957 79644 79796 79868 7991 79944 80055 8050 81031 811 84197 84342 8443 847 84720 8473 84892 85365 8733 8794 8802 8867 8869 90161 9060 9091 9126 9197 9200 9215 92579 93210 9365 9487 9488 952 9524 9651 9791 9993	Homo sapiens (human)
DOID:3978	extrinsic cardiomyopathy	PFKFB3	5209	Homo sapiens (human)

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