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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 **1126 - 1150** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:2089	obsolete constipation	ACE ACHE ADH1C AKR1A1 ALDOB ALPP ATRNL1 B3GAT1 CHAT CHST14 COG2 COMT CTNS DDOST EXT2 GAD1 GBA1 HPSE2 MANBA MDH2 MGAM MLYCD OCRL PAFAH1B1 PCCA PCCB PIK3CA PRNP PTEN SDC1 SDHA SDHB SDHC SLC35A2 UGT1A9	10327 1103 113189 126 1312 1497 1636 1650 2132 22796 229 23417 250 2571 26033 2629 27087 4126 4191 43 4952 5048 5095 5096 5290 54600 5621 5728 60495 6382 6389 6390 6391 7355 8972	Homo sapiens (human)
DOID:1699	obsolete congenital ichthyosiform erythroderma	ACE ADH5 ALDH3A1 ALDH3A2 ALOX12B AMY2B CD44 CERS3 COG7 DGAT1 EBP ELOVL4 FCER2 GBA1 HSD17B6 LPIN2 MPDU1 MRC1 NSDHL PIGA PNPLA2 PNPLA6 PRSS8 SGPL1 STS SULT2B1	10682 10908 128 1636 204219 218 2208 224 242 2629 280 412 4360 50814 5277 5652 57104 6785 6820 8630 8694 8879 91949 9526 960 9663	Homo sapiens (human)
DOID:13364	obsolete chronobiology disease	ACE	1636	Homo sapiens (human)
DOID:0110466	obsolete autosomal recessive nonsyndromic deafness 105	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:0110286	obsolete autosomal recessive limb-girdle muscular dystrophy type 2R	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:0110302	obsolete autosomal dominant limb-girdle muscular dystrophy type 1C	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:0110301	obsolete autosomal dominant limb-girdle muscular dystrophy type 1B	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:0110300	obsolete autosomal dominant limb-girdle muscular dystrophy type 1A	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:10141	obsolete asthenopia	ALDH2 ALDH3A2 CA4 CACNA2D4 CHST6 CTNS ELOVL1 HADHA HGSNAT HK1 IDH3A IDH3B PCYT1A PIKFYVE PLCD1 PNPLA6 POMGNT1 SPHK2	10908 138050 1497 200576 217 224 3030 3098 3419 3420 4166 5130 5333 55624 56848 64834 762 93589	Homo sapiens (human)
DOID:0060605	obsolete anterior segment mesenchymal dysgenesis	CYP1B1	1545	Homo sapiens (human)
DOID:715	obsolete T-cell lymphoblastic leukemia/lymphoma	CD209 CD38 CD44 CNTN2 COMT CYP19A1 FCGR3B FUT4 ICAM1 LGALS1 LGALS9 MRC1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN SACM1L SELL SIGLEC7 SOAT1 TALDO1 TMED9 VCAM1	1312 1588 2215 22908 2526 27036 30835 3383 3956 3965 4360 4507 4684 4860 5290 5291 5293 5294 54732 5728 6402 6646 6888 6900 7412 952 960	Homo sapiens (human)
DOID:613	obsolete T lymphocyte deficiency	PNP SFTPA1	4860 653509	Homo sapiens (human)
DOID:0050536	obsolete SC phocomelia syndrome Aliases: Hypomelia Hypotrichosis Facial hemangioma syndrome SC PSEUDOTHALIDOMIDE SYNDROME	MELTF SMC3	4241 9126	Homo sapiens (human)
DOID:0050780	obsolete Opitz-GBBB syndrome	GPC3 HK2 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 SMUG1	23583 2719 3099 5290 5291 5293 5294 5563	Homo sapiens (human)
DOID:0050819	obsolete Matthew-Wood syndrome	ABO ACE ACYP2 AKR1B10 ALDH7A1 APRT ARSA ARSH C1GALT1 C1GALT1C1 CALR CD177 CD38 CD44 CEACAM5 CEACAM7 CEL CEMIP CERK CHKA CHST15 CYP3A5 DPEP1 ENO1 FASN FBP1 FCGR3B FCN2 FDPS FUT3 FUT4 GAD1 GALNT3 GAPDH GLUL GOLPH3 GP2 GPC1 GPC5 GPI GPX1 HAS2 HK1 HK2 HMMR HYAL2 IDH1 INPP5D KL L1CAM LDHB LGALS1 LGALS3 LGALS4 LPCAT2 MCAT MDH1 ME2 MLYCD MMUT MRC1 MSLN NT5E OGA OGT PAFAH1B2 PARG PARP1 PDHX PGAM1 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR PLCD1 PLCD3 PLD1 PNPLA2 PRNP PTEN PTGS2 REG1B REG3G SDC1 SDC2 SIGLEC7 SIRT6 SLC17A5 SLC35F6 SMUG1 SOAT1 SQLE ST6GAL1 VCAM1 VCAN VTCN1	10232 1048 1056 10724 1087 1119 113026 130120 142 1462 1577 1636 1800 2023 2194 2203 2215 2220 2224 2262 23417 23583 2525 2526 2571 2591 2597 26503 27036 27349 2752 28 2813 2817 2821 2876 29071 3037 3098 3099 3161 3417 347527 353 3635 3897 3945 3956 3958 3960 410 4190 4200 4360 4594 4907 501 5049 51363 51548 5223 5226 5230 5290 5291 5293 5294 5315 5329 5333 5337 54947 54978 5621 56913 57016 57104 57126 57214 5728 5743 5968 6382 6383 64083 64781 6480 6646 6713 7412 79679 8050 811 8473 8505 8692 9365 952 960 98	Homo sapiens (human)
DOID:0060171	obsolete Dravet syndrome	ALDH7A1 EPM2A	501 7957	Homo sapiens (human)
DOID:12252	obsolete Cushing's syndrome	ACAT1 ACE AKR1B1 APRT CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP3A4 CYP4F3 FASN FH HSD11B1 HSD11B2 HSD3B1 HSD3B2 SMUG1	1576 1584 1585 1586 1588 1636 2194 2271 231 23583 3283 3284 3290 3291 353 38 4051	Homo sapiens (human)
DOID:1442	obsolete Alpers syndrome	PRNP	5621	Homo sapiens (human)
DOID:10932	obsessive-compulsive personality disorder Aliases: OCPD	ACAN COMT	1312 176	Homo sapiens (human)
DOID:10933	obsessive-compulsive disorder Aliases: Anancastic neurosis obsessive compulsive disorder	ABO ACACA ACAN COMT CYP19A1 CYP2C19 DGKD EFNA5 FCGR3B GAD2 HTR2A LCT	1312 1557 1588 176 1946 2215 2572 28 31 3356 3938 8527	Homo sapiens (human)
DOID:9970	obesity	AACS ABO ACACA ACACB ACADM ACADVL ACAN ACAT1 ACE ACHE ACLY ACOX1 ACSL1 ACSL4 ACSL5 ACSM3 ACSS2 ADH1B ADIPOQ ADRB3 AGPAT2 AKR1A1 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKT2 ALDH1B1 ALDH2 ALDH6A1 ALDOB ALG13 ALOX12 ALOX5 ALPL AMACR AMY1A AMY1B AMY1C APOD APRT ARSA ARSD ASAH1 ASAH2 ATP6AP2 ATRN B4GALT5 BAAT BAD CA4 CALR CANX CAT CBR1 CD14 CD1D CD248 CD33 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEL CEPT1 CERK CERS6 CHGA CHI3L1 CHIT1 CHPT1 CHST3 CLEC7A CMAS CNTN3 CNTN4 COMT CPT1A CPT1C CPT2 CS CYP11A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP4F2 CYP4F3 CYP7A1 DAG1 DCN DEGS1 DEGS2 DGAT1 DGAT2 DGKE DGKG EBP ECHS1 ELOVL5 ELOVL6 ENO2 ENPP1 ENPP2 FADS1 FADS2 FASN FCGR3B FDFT1 FDPS G6PC1 G6PD GAD2 GAL3ST1 GALNT2 GAPDH GCK GFPT1 GGT1 GHRL GK GLB1 GLDC GLO1 GLUL GNPDA2 GPAM GPAT3 GPCPD1 GPD1 GPIHBP1 GPX1 GPX3 H6PD HADH HADHA HAS2 HEXA HGSNAT HJV HK1 HK2 HMGCS1 HPGDS HPSE HS6ST1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B3 HSD17B4 HSPG2 HTR2A ICAM1 IDH3A IDH3B IL1R1 IL1RAP IL1RAPL1 INPP5E INPPL1 ITLN1 KHK KL KLB LALBA LCAT LCT LEP LEPR LGALS1 LGALS3 LIPA LIPC LIPG LPGAT1 LPIN1 LPIN2 LPIN3 LPL LY75 MACROD2 MBL2 MBOAT7 MCAT ME1 MGAM MGAT1 MGAT2 MGLL MIOX MLYCD MMUT MOGS MRC1 MSMO1 MTMR14 NAAA NAMPT NANS NCAM1 NDUFAB1 NEIL1 NPY1R OGA OGG1 OGT OLR1 OXCT1 PARP1 PARP2 PARP9 PC PCK1 PCK2 PDX1 PEMT PFKFB3 PFKP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G15 PLA2G2A PLA2G2E PLA2G4A PLA2G5 PLA2G7 PLAUR PLB1 PLCB1 PLCB2 PLCB3 PLD1 PNLIP PNPLA2 PNPLA3 PNPLA6 POMGNT1 PPARA PPARGC1A PPP1R3B PPP1R3G PRKAA1 PRKAA2 PRNP PTEN PTGDS PTGES2 PTGES PTGS1 PTGS2 RBP4 RENBP RGMA SCD SCP2 SDC1 SDC2 SDC3 SELP SERPINA12 SFTPA1 SFTPA2 SFTPD SGMS2 SGPL1 SI SIGLEC12 SIRT2 SIRT4 SIRT6 SLC17A5 SLC27A5 SLC2A1 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35B2 SLC35D3 SLC35G1 SLC37A4 SLC5A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRD5A1 ST6GAL1 STS SUCLA2 SULF2 SULT1E1 TIGAR TKTL1 TLR4 TM7SF2 TNF TNKS UCP2 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 VCAM1 WDTC1 XXYLT1 XYLT2	10038 1012 10135 10159 10327 10390 10400 1048 10555 10559 1056 10682 10724 10855 10891 10908 10998 1113 11141 1116 1118 11343 120227 123099 125 126129 1312 132789 1374 1376 138050 140733 142 1431 145264 148738 151056 152002 152330 152831 1543 1544 1545 155 1555 1559 1571 1576 1581 1583 1588 1589 1591 1593 159371 1594 1605 1608 1634 1636 1645 1646 166929 176 1892 2026 208 217 2180 2182 219 2194 2215 2222 2224 229 22933 23038 231 23175 23236 23409 23417 23583 23600 23659 239 240 249 253782 2538 2539 2542 2572 2590 2597 2645 26503 266722 2673 2678 2710 27163 2720 27306 2731 27349 2739 2752 276 277 278 28 2819 2876 2878 3030 3033 3037 3073 30814 3098 3099 31 3157 32 3290 3291 3292 3293 3295 3339 3356 3383 338328 34 340146 3419 3420 347 347734 353 3554 3556 3636 3651 37 3795 38 3906 3931 3938 3952 3953 3956 3958 3988 3990 3992 4023 4051 4065 410 412 414 4153 4199 4245 4247 427 43 4329 4360 4594 4684 47 4706 4886 4968 4973 5019 5067 5091 51 5105 5106 51144 51548 5167 5168 51703 51738 5209 5214 5290 5291 5293 5294 5310 5315 5320 5321 5322 5329 5330 5331 5337 5406 54187 54575 54576 54577 54578 54579 54600 5465 54657 54658 54659 55586 55600 5562 55624 5563 55902 55907 55959 5621 56261 56623 56624 56848 56963 56994 570 57103 57104 57124 572 5728 5730 5742 5743 57678 5950 5973 60481 6296 6307 6319 6342 6382 6383 6403 64132 6441 64419 64581 6476 64781 6480 648791 64900 6513 6514 6515 6517 6518 6523 653509 65985 6609 6646 6715 6783 7099 7108 7124 729238 7351 7412 762 7841 79071 79143 7941 79660 79661 79868 80142 80339 811 821 8277 83666 8455 84649 847 8473 84803 8526 8529 8560 8644 8658 8694 873 8803 8877 8879 8972 89858 912 9197 929 9334 9365 9370 9388 9394 9415 945 9469 9514 952 9536 9563 960 962 9663 9672 972 9926	Homo sapiens (human)
DOID:1209	nutritional optic neuropathy	ACE ACO2 AKR1B1 PRPS1 PTEN	1636 231 50 5631 5728	Homo sapiens (human)
DOID:374	nutrition disease Aliases: Nutritional disorder	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PRPS1 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3992 47 5091 5106 5290 5291 5293 5294 5338 5631 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)
DOID:13739	nutmeg liver Aliases: chronic passive congestion of liver	ABO ACACB ACADS ACAT1 ACAT2 ACE ACHE ACSS2 ADH1C AKR1A1 AKR1B1 ALDH2 ALOX15B ALOX5 ALPL ANXA5 APRT ARSA ASGR1 CAT CD14 CD44 CDH13 CEL CHI3L1 CHIT1 CLEC1B CLEC7A COMT CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP27A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A5 CYP4A11 CYP4F2 CYP7A1 DHCR7 EBP EFNA5 ENPP1 EPHX2 EXTL3 FADS1 FADS2 FCGR3B FDPS FUT3 GALNT2 GALNT3 GCK GGT1 GLO1 GLUL GPD1L GPIHBP1 GPLD1 GPX1 GPX3 HPGDS HPSE2 HPSE HSD11B1 HSPG2 ICAM1 IL1RL1 ISYNA1 ITLN1 KL LCAT LGALS2 LGALS3 LIPA LIPC LIPG LMAN1 LPCAT3 LPL MBL2 MCFD2 MGAM MPI MTAP NAMPT NCAM1 NDST4 NDUFAB1 NT5E OGG1 OLR1 OXCT1 PCYT1A PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G5 PLA2G6 PLA2G7 PLB1 PLPP3 PRKAA2 PTEN PTGDS PTGS1 PTGS2 RENBP RPN1 SCD SELE SELL SELP SFTPD SI SIGLEC1 SIRT4 SIRT6 SLC33A1 SLC35G1 SLC5A1 SMPD1 SMUG1 SOAT1 SOAT2 SRGN ST6GALNAC5 ST8SIA4 TM7SF2 UGT1A1 UGT1A6 UMOD VCAM1	1012 10135 10162 10327 1056 10682 10855 1116 1118 120227 126 1312 151056 1543 1555 1557 1558 1559 1571 1573 1577 1579 1581 1585 1586 1588 1593 159371 1636 1717 1946 2053 2137 217 2215 2224 231 23171 23409 23583 23659 240 247 249 2525 2590 2591 2645 2678 27306 2739 2752 28 2822 2876 2878 308 32 3290 3339 3383 338328 35 353 38 39 3931 3957 3958 3988 3990 3992 3998 4023 410 4153 43 432 4351 4507 4684 4706 4907 4968 4973 5019 51266 5130 51477 51548 5167 5286 5290 5291 5293 5294 5310 5319 5320 5322 54578 54658 5552 55600 5563 55902 5728 5730 5742 5743 5973 60495 6184 6319 6401 6402 6403 6441 64579 64581 6476 6523 6609 6614 6646 7108 7369 7412 7903 7941 81849 8398 8399 8435 847 8529 8613 8972 90411 9173 9197 929 9365 9388 9415 960	Homo sapiens (human)
DOID:0112072	nuclear type mitochondrial complex I deficiency 20 Aliases: ACAD9 deficiency Acyl-CoA dehydrogenase 9 deficiency MC1DN20 mitochondrial complex 1 deficiency due to ACAD9 deficiency	ACADL	33	Homo sapiens (human)

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