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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 **3101 - 3125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	ABO ACACA ACE ACOT7 ADIPOQ AGA APOD ATP6AP2 B3GAT1 CAT CD209 CD44 CYB5R4 CYP19A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP7A1 DCN DGAT1 ENPP1 FADS1 FASN FCN2 FCN3 FOLR2 G6PC1 G6PC2 GAD1 GAD2 GAS1 GCK GGT1 GLO1 GPX1 GYS2 HKDC1 HPSE2 HSD11B1 HSD11B2 HSPG2 ICAM1 IL1R1 INS KLB LCT LDHA LEP LGALS1 LIPG LPIN1 LPL MBL2 MCAT MGAT1 MGAT2 MGLL MICA NAMPT NANS OGA OGG1 OLR1 PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PLA2G7 PNPLA2 PNPLA3 PRKAA2 PTEN PTGS2 RBP4 SCD SDHC SFTPC SLC2A2 SLC2A3 SLC2A4 SOAT1 ST3GAL4 ST6GALNAC3 VCAM1	100507436 10135 10159 10724 11332 11343 120227 152831 1545 1581 1588 1591 1594 1634 1636 175 200576 2194 2220 23175 2350 2538 256435 2571 2572 2619 2645 2678 27087 27349 2739 28 2876 2998 30835 31 3290 3291 3339 3383 347 3554 3630 3938 3939 3952 3956 3992 4023 4153 4245 4247 4968 4973 5105 51167 5167 5290 5291 5293 5294 54187 5563 57104 5728 5743 57818 5950 60495 6319 6391 6440 6484 6514 6515 6517 6646 7412 7941 80201 80339 847 8547 8694 9370 9388 960	Homo sapiens (human)
DOID:0060671	cerebral cavernous malformation 3	SMUG1	23583	Homo sapiens (human)
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	ARSA CALR CD22 CHIT1 CPT1A CYP11A1 FASN FCER2 FCN2 GALC GBA1 GBA2 GLA GLB1 GNPDA2 GPC1 ICAM1 IDUA LGALS9 LIPA NPC1 OGA PIK3CA PSAP SGPL1 SMPD1 SMPD2 SMPDL3A ST3GAL5 UGCG	10724 10924 1118 132789 1374 1583 2194 2208 2220 2581 2629 2717 2720 2817 3383 3425 3965 3988 410 4864 5290 5660 57704 6609 6610 7357 811 8869 8879 933	Homo sapiens (human)
DOID:8771	contagious pustular dermatitis Aliases: Ecthyma contagiosum Ecthyma, Contagious Orf scabby mouth sheep pox thistle disease	ABO CYB5R3 FCN2 IL18R1	1727 2220 28 8809	Homo sapiens (human)
DOID:0110106	atrial heart septal defect 1 Aliases: ASD1 atrial septal defect 1	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:649	prion disease Aliases: Prion disease pathway Prion protein disease Spongiform Encephalopathy prion induced disorder transmissible spongiform encephalopathy	ACHE BST1 CD14 CD44 CHI3L1 GPI LGALS1 OGG1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PRNP PTGS2 SMUG1	1116 23583 2821 2923 3956 43 4968 5290 5291 5293 5294 5563 5621 5743 683 929 960	Homo sapiens (human)
DOID:0070230	benign recurrent intrahepatic cholestasis Aliases: BRIC Summerskill-Walshe-Tygstrup syndrome	GGT1	2678	Homo sapiens (human)
DOID:9923	developmental coordination disorder	ACADSB ACAT1 AGK AGRN ALDH5A1 ALG14 ALG2 ARSD ASAH1 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 CAT CHAT CHKB CHST14 CHST3 COG4 COG5 CRPPA CYP27B1 CYP2R1 CYP2U1 DAG1 DGKK DPAGT1 EXT2 EXTL3 FKRP FKTN GBA1 GFPT1 GMPPB HACD1 HADH HADHA HADHB HGSNAT HIBCH HPRT1 INPP5K LARGE1 LMAN2L MAN1B1 MBOAT7 MTMR14 MTMR2 NDST1 OGG1 PGAP1 PIGC PNP PNPLA2 POMGNT1 POMK POMT1 POMT2 PRPS1 PTEN SDHA SDHB SDHD SRD5A3 ST3GAL3 TECR TUSC3	10159 10466 10585 1103 1120 11253 113189 113612 120227 138050 139189 148789 1594 1605 1798 199857 2132 2137 2218 23545 25839 26275 2629 2673 29925 29954 3030 3032 3033 3251 3340 36 375790 38 414 427 4860 4968 51763 523 5279 55624 55750 5631 57104 5728 6389 6390 6392 64419 6487 729920 79143 79147 7915 79644 7991 80055 81562 84197 847 85365 8898 9200 9215 9469 9524	Homo sapiens (human)
DOID:0080886	vitamin D-dependent rickets type 1A	CYP27B1	1594	Homo sapiens (human)
DOID:0060125	heavy chain disease	ASAH2 SDC1	56624 6382	Homo sapiens (human)
DOID:0060295	complement component 2 deficiency	ACADVL ACE CALR CD55 CYP21A2 FCN3 MASP2 MBL2 OTOA	10747 146183 1589 1604 1636 37 4153 811 8547	Homo sapiens (human)
DOID:2964	periarthritis	ACAN ACLY ADH1B B3GALT6 CD14 CD44 DCN ENPP1 EXT1 EXT2 EXTL3 FMOD HPSE HSPG2 IDH1 IDH2 KL PTEN	10855 125 126792 1634 176 2131 2132 2137 2331 3339 3417 3418 47 5167 5728 929 9365 960	Homo sapiens (human)
DOID:4015	sarcomatoid carcinoma Aliases: spindle cell carcinoma	ABO ACACA ACACB ACE ACSL1 ACSL5 ACSM1 AGXT AKR1B10 AKR1B1 AKR1C3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALOX15 ALOX15B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ARSA ASAH1 B3GAT1 B4GALNT2 BAAT C1GALT1 CACNA2D3 CALR CAT CBR1 CD109 CD14 CD1D CD248 CD38 CD44 CD55 CD74 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CERS2 CHGA CHPT1 CPT1A CPT2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP3A5 CYP3A7 CYP4F3 DAG1 DCN DCXR DHCR24 DHDH EFNA1 ENO1 ENO2 ENPP1 FASN FBP1 FCGR3B FH FOLR1 FUT1 FUT3 FUT4 FUT6 G6PC1 GALNT3 GALNT6 GAPDH GCNT1 GGT1 GLB1 GLO1 GLUL GOLPH3 GPC3 GPLD1 GPX2 GPX3 GUSB HAGH HAS1 HAS2 HAS3 HK2 HMGCS2 HMMR HPGDS HPSE HSD17B12 HSD3B1 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 INPP4B ITLN1 L1CAM LDHA LDHB LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LMAN1 LPIN1 LPL LY6K LYPD5 LYPLA1 MAN2C1 MBD4 MCAT MDH2 MELTF MGAT5 MICA MINPP1 MMP25 MPG MRC1 MSLN MTAP MUTYH NAMPT NCAM1 NEIL1 NEU1 NEU3 NT5E NTHL1 OGG1 OPCML PARP1 PDHA1 PDIA3 PFKM PGAM1 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G6 PLAUR PLCD1 PLCE1 PLCG1 PLD1 PLD2 PLPP2 PNP PPP1R3A PRKAA2 PRNP PRPS1 PTEN PTGDS PTGES3 PTGES PTGS1 PTGS2 PYGM QTRT1 RECK SCD SDC1 SELE SFTPC SHMT1 SIGLEC12 SIGLEC9 SIRT2 SIRT6 SLC2A2 SLC35A2 SMC3 SMUG1 SPHK1 SPHK2 SRGN ST3GAL4 ST3GAL6 ST6GAL1 ST8SIA4 STS TKT TKTL1 TM7SF2 TNKS TYMP UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMPS VCAN VTCN1	100507436 1012 10135 10232 1040 10402 10434 1048 10728 10825 10855 1087 1113 11226 116285 124872 128869 135228 1374 1376 142 1462 1543 1544 1545 1551 1571 1577 1586 1588 1591 1594 1604 1605 1634 1636 1718 189 1890 1942 2023 2026 217 218 2180 2194 2203 2215 226 2271 22933 231 23175 2348 23583 23600 240 246 247 248 250 2523 2525 2526 2528 2538 2591 2597 2650 2678 27087 27180 2719 2720 27294 27306 27349 2739 2752 28 2822 284348 2877 2878 2923 2990 29956 3029 3036 3037 3038 307 308 3099 31 3158 3161 32 3283 3339 3373 3383 3417 3418 353 3897 3939 3945 3956 3958 3960 3964 3965 3998 4023 4051 410 412 4123 4191 4241 4249 427 4350 4360 4507 4595 4680 4684 4758 4860 4907 4913 4968 4978 501 51144 51181 51196 51548 5160 5167 51703 5213 5223 5230 5289 5290 5291 5293 5294 5315 5319 5320 5329 5333 5335 5337 5338 54575 54576 54577 54578 54579 54600 54657 54658 54659 54742 5506 5552 55600 5563 55799 5621 5631 56848 56886 56913 56994 570 57016 57124 5728 5730 5742 5743 5837 6319 6382 6401 64083 64386 6440 6470 6480 6484 6514 7086 7108 7355 7364 7372 7903 79661 79679 811 81890 8277 8372 8398 8434 847 8612 8644 8658 8692 873 8821 8877 8930 89858 912 9126 929 952 9536 9562 960 972	Homo sapiens (human)
DOID:0060444	granular corneal dystrophy 2 Aliases: CGD2 avellino corneal dystrophy combined granular-lattice corneal dystrophy corneal dystrophy, Avellino type granular corneal dystrophy type 2	ACE CAT CD1D GCDH LPIN2 PARP1 SDC1	142 1636 2639 6382 847 912 9663	Homo sapiens (human)
DOID:3973	thyroid gland medullary carcinoma Aliases: Medullary carcinoma of the Thyroid gland Ultimobranchial thyroid tumor Ultimobranchial thyroid tumour medullary thyroid carcinoma	APRT CBR1 CEACAM5 CEACAM7 CHGA CHPT1 CYP1A2 DHDDS FCN2 FUT4 G6PD GFRA1 GLB1 HK2 ICAM1 MCAT MRC1 NTM PIK3CA PIK3CB PIK3CD PIK3CG PNP PTGS1 PTGS2 RPIA SDHB SDHC SDHD SHMT1 SMUG1 SOAT1 SORD TYMP	1048 1087 1113 1544 1890 2220 22934 23583 2526 2539 2674 2720 27349 3099 3383 353 4360 4860 50863 5290 5291 5293 5294 56994 5742 5743 6390 6391 6392 6470 6646 6652 79947 873	Homo sapiens (human)
DOID:14717	centronuclear myopathy Aliases: myotubular myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 MTMR6 MTMR7 MTMR8 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55613 55624 64419 6517 79147 8776 8898 9107 9108 9200 9215 952	Homo sapiens (human)
DOID:4031	eosinophilic gastroenteritis	SIGLEC8	27181	Homo sapiens (human)
DOID:1412	bacteriuria	CYP1A1	1543	Homo sapiens (human)
DOID:0080490	mucolipidosis type IV	HEXA	3073	Homo sapiens (human)
DOID:5363	myxoid liposarcoma Aliases: Myxoid/round cell liposarcoma	EBP PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	10682 23583 5290 5291 5293 5294	Homo sapiens (human)
DOID:4723	intracranial hypotension	IDUA	3425	Homo sapiens (human)
DOID:0111256	hyperferritinemia-cataract syndrome Aliases: Bonneau-Beaumont syndrome HHCS HRFTC cataract-hyperferritinemia syndrome hereditary hyperferritinemia with congenital cataracts hereditary hyperferritinemia-cataract syndrome hyperferritinemia with or without cataract	GCNT2	2651	Homo sapiens (human)
DOID:0110225	Brugada syndrome 8 Aliases: BRGDA8	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:2237	hepatitis Aliases: acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis	ABO ACACA ACADM ACE ACOT7 AKR1D1 ALDH2 ALDOB ALPP APRT ARSH ATRNL1 B4GALT1 BDH1 BST2 CALR CAT CD14 CD1D CD44 CD74 CEL CFC1 CHI3L1 CHPT1 CHST3 CLEC7A COLGALT2 CPT1A CPT1B CPT2 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP7A1 CYP7B1 DLAT ECHS1 ENPP2 EXT1 FADS2 FBP1 FCGR3B FUT8 G6PD GGT1 GPC3 GPI GPNMB GPX1 GUSB HADH HAS1 HAS3 HKDC1 HPGDS HSD11B2 HSD17B3 HSD17B6 HSD3B2 ICAM1 IL1R1 IPMK KLRB1 KLRC1 KLRK1 LGALS1 LGALS3 LGALS9 LIPC LTC4S MBL2 MBOAT7 MGLL MICA MPPE1 NAMPT NCAM1 NCAN NT5E OGG1 PARP1 PARP2 PARP9 PC PDIA3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLD4 PMM1 PNPLA3 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 RGN SDC1 SELP SGMS1 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC27A5 SMPD1 SMUG1 SOAT1 SPHK1 ST6GAL1 SULF1 TIPARP UGT1A1 UGT2B7 UMOD VCAM1	10038 100507436 10135 10457 1056 10998 1116 11332 11343 122618 1374 1375 1376 142 1463 1544 1545 1555 1557 1559 1571 1576 1581 1583 1584 1586 1588 1589 1593 1636 1737 1892 2131 217 2203 2215 229 22914 22933 23127 23213 23583 250 2530 253430 2539 259230 25976 26033 26503 2678 2683 27036 27180 2719 27306 28 2821 2876 2923 2990 3033 3036 3038 31 3284 3291 3293 3383 34 347527 353 3554 3820 3821 3956 3958 3965 3990 4056 4153 4684 4907 4968 5091 51548 5168 5236 5290 5291 5293 5294 5372 54658 5563 55997 56994 5716 5728 5742 5743 622 6382 6403 64581 6480 65258 6609 6646 6718 684 7364 7369 7412 79143 80201 80339 811 83666 847 8630 8877 9104 912 929 9415 9420 9469 9536 960 972	Homo sapiens (human)
DOID:3119	gastrointestinal system cancer Aliases: GI tumor digestive system cancer gastrointestinal tract cancer	ABO ACE ACYP2 AKR1B10 ALOX5 ALPP ASAH1 B4GALNT1 CALR CBR1 CD44 CEACAM5 CEACAM6 CEACAM7 CFC1 CHI3L1 CMAS CYP19A1 CYP2C19 CYP2E1 CYP3A4 CYP3A5 EBP EFNA2 FUT4 HK2 HPGDS HPSE ICAM1 IDH1 IGF2R KLRK1 LGALS1 LGALS9 MBD4 MUTYH OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLCE1 PTEN PTGS1 PTGS2 SDC1 SDHC SDHD SHMT2 SIGLEC7 SIRT2 TYMP UGT1A1 UGT1A7 UMPS	1048 10682 10855 1087 1116 1557 1571 1576 1577 1588 1636 1890 1943 22914 22933 240 250 2526 2583 27036 27306 28 3099 3383 3417 3482 3956 3965 427 4595 4680 4968 51196 5290 5291 5293 5294 5319 54577 54658 55907 55997 57016 5728 5742 5743 6382 6391 6392 6472 7372 811 873 8930 960 98	Homo sapiens (human)

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