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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 **7301 - 7325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:5418	schizoaffective disorder	ACADS ACHE ACOT7 ACSL6 ADH1B AGA ALDH2 ALDH5A1 ALG9 ARSA ARSB B3GAT1 CALR CHI3L1 CHPT1 COMT CYP27B1 CYP2B6 DHDDS EPM2A G6PD GAD1 GAD2 GLUL HPGDS LGALS3 ME2 MGAT1 NPL PAFAH1B1 PIK3C2A PLA2G1B PLA2G4A PLCB4 PPT1 PRNP RPN2 RTN4R SLC27A5 SMUG1 SPTLC1 ST3GAL1 UXS1 VCAM1	10558 10998 1116 11332 125 1312 1555 1594 175 217 23305 23583 2539 2571 2572 27087 27306 2752 35 3958 410 411 4200 4245 43 5048 5286 5319 5321 5332 5538 5621 56994 6185 6482 65078 7412 7915 7957 79796 79947 80146 80896 811	Homo sapiens (human)
DOID:11328	schizophreniform disorder	ACADS ACHE ACOT7 ACSL6 ADH1B AGA ALDH2 ALDH5A1 ALG9 ARSA ARSB B3GAT1 CALR CHI3L1 CHPT1 COMT CYP27B1 CYP2B6 DHDDS EPM2A G6PD GAD1 GAD2 GLUL HPGDS LGALS3 ME2 MGAT1 NPL PAFAH1B1 PIK3C2A PLA2G1B PLA2G4A PLCB4 PPT1 PRNP RPN2 RTN4R SLC27A5 SMUG1 SPTLC1 ST3GAL1 UXS1 VCAM1	10558 10998 1116 11332 125 1312 1555 1594 175 217 23305 23583 2539 2571 2572 27087 27306 2752 35 3958 410 411 4200 4245 43 5048 5286 5319 5321 5332 5538 5621 56994 6185 6482 65078 7412 7915 7957 79796 79947 80146 80896 811	Homo sapiens (human)
DOID:0060249	scoliosis	ACADS ACAN AGA AGPAT2 AGRN ALDH3A2 ALG11 ALG14 ALG1 ALG2 ASAH1 ATP6AP2 ATP6V0A2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT7 CD38 CHAT CHI3L1 CHST11 CHST14 CHST3 COG1 COG8 COLEC10 COLEC11 COMT CRPPA CYP7B1 DEGS1 DHCR7 DPAGT1 DPM2 EBP ENPP1 EXT1 EXT2 EXTL3 FKRP FKTN FUCA1 FUT8 GAD1 GALNS GAS1 GBA2 GFPT1 GLB1 GMPPB GNE GNPAT GNPTAB GNPTG GPC3 GPC5 GUSB HACD1 HGSNAT HSD17B4 HSPG2 IDH1 IDH2 IDUA INPP5E INPP5K INPPL1 LARGE1 LFNG MASP1 MTM1 MTMR2 NEU1 NGLY1 NSDHL OCRL PAPSS2 PCYT1A PGAP2 PGAP3 PGM3 PIGL PIGO PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PLOD3 PMM2 POMK POMT1 POMT2 PRPS1 PTDSS1 PTEN SDHB SDHC SDHD SGMS2 SLC26A2 SLC2A10 SLC35A2 SLC35A3 SYNJ1 TGDS TMEM165 XYLT1	10020 10159 10555 10584 10585 10682 1103 1116 11285 113189 126792 128869 1312 138050 145173 166929 1717 175 176 1798 1836 199857 2131 2132 2137 2218 224 2262 23443 23483 23545 2517 2530 2571 2583 2588 2619 26229 2673 2719 2720 27315 284098 2990 29925 29954 3295 3339 3417 3418 3425 35 3636 375790 3955 427 440138 4534 4758 4952 50515 50814 5130 51604 5167 51763 5238 5286 5290 5373 55650 55768 55858 56052 5631 5648 56623 5728 57704 6390 6391 6392 64131 729920 7355 78989 79147 79158 81031 84197 84342 8443 84572 84720 84992 85365 8560 8818 8867 8898 8985 9060 9200 9215 93210 9382 9420 9469 9487 952 9791	Homo sapiens (human)
DOID:0080154	short chain acyl-CoA dehydrogenase deficiency	ACADS ACADSB DLD	1738 35 36	Homo sapiens (human)
DOID:1607	hypoglycemic coma	ACADM GCK HADH HMGCL	2645 3033 3155 34	Homo sapiens (human)
DOID:0090031	D-bifunctional protein deficiency	ACADM CPT1A EHHADH HSD17B4 PFKM PGAM2	1374 1962 3295 34 5213 5224	Homo sapiens (human)
DOID:0090129	carnitine palmitoyltransferase I deficiency Aliases: CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency	ACADM CPT1A CPT2 HSD17B4 PFKM PGAM2	1374 1376 3295 34 5213 5224	Homo sapiens (human)
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	ACADM CD55 CHPT1 CPT1A CPT1B CPT2 IMPA1 LFNG MBL2 PNPLA2 SCD5 SCD SFTPD	1374 1375 1376 1604 34 3612 3955 4153 56994 57104 6319 6441 79966	Homo sapiens (human)
DOID:9281	phenylketonuria Aliases: Folling's disease PKU maternal phenylketonuria phenylalaninemia	ACADM CAT G6PD GPX3 OGDH OXCT1 PGM1	2539 2878 34 4967 5019 5236 847	Homo sapiens (human)
DOID:4724	brain edema Aliases: intracranial swelling wet brain	ACADM BCKDHA BCKDHB CPT2 DBT ICAM1	1376 1629 3383 34 593 594	Homo sapiens (human)
DOID:9007	sudden infant death syndrome Aliases: Cot death Crib death SIDS Sudden death of nonspecific cause in infancy	ACADM B3GAT1 CD14 CHAT CPT1A CYP1A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP4F3 EPHX2 FUT2 G6PC1 GPD1L HADHA HPGDS IDS MBL2 PIK3CA PRNP SFTPD SI SLC37A4	1103 1374 1543 1555 1557 1558 1559 2053 23171 2524 2538 2542 27087 27306 3030 34 3423 4051 4153 5290 5621 6441 6476 929	Homo sapiens (human)
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKG2 PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5261 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKB PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5257 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKA2 PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5256 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:0111040	glycogen storage disease IXd Aliases: GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKA1 PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5255 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	ACADM ACSM3 AGPAT2 ALDH7A1 ARSB B3GALNT2 B3GAT3 B3GLCT B4GAT1 CHST14 CHST3 CNTN5 CNTN6 COG6 COG8 COMT CPT2 CRPPA DAG1 DHCR24 DHCR7 EBP EOGT EXT1 FBP1 FIG4 FKRP FKTN GALC GBA1 GLB1 GLDC GLUL GMPPB GPC3 GUSB HIBCH HSD17B4 IDS IDUA INPP5E L1CAM LARGE1 MBOAT7 MTM1 MYORG NANS NGLY1 NT5E NTNG1 OCRL OGDH PAFAH1B1 PDHA1 PIGN PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 POMGNT2 POMK POMT1 POMT2 PPARA PRNP PTDSS1 PTEN RXYLT1 SFTPA1 SFTPA2 SFTPC SFTPD SLC17A5 SLC39A8 SMC3 SUCLA2 SUMF1 TGDS TMTC3 UGCG	10329 10555 10585 10682 11041 113189 1312 1376 145173 148789 160418 1605 1717 1718 2131 2203 2218 22854 23483 23556 2581 26229 26275 2629 26503 2719 2720 27255 2731 2752 285203 285362 2990 29925 29954 3295 34 3423 3425 3897 411 4534 4907 4952 4967 501 5048 5160 5290 5291 5293 5294 53942 54187 5465 55624 55768 5621 56623 5728 57462 57511 6296 64116 6440 6441 653509 729238 729920 7357 79143 79147 84197 84342 84892 8803 9126 9215 9469 9791 9896	Homo sapiens (human)
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	ACADM ACSBG1 ALG10 ALG10B CNTN3 CYP1A1 KCNQ1 PTEN SCD SLC2A5 SQLE	144245 1543 23205 34 3784 5067 5728 6319 6518 6713 84920	Homo sapiens (human)
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	ACADM ACOT7 ACSS2 AGXT ALDH1A3 ALOX15 ALOX5 ALPP ANXA5 APRT ATRNL1 CAT CD14 CD44 CEACAM5 CEACAM7 CHI3L1 CHST14 CNTN3 CYP19A1 CYP1A2 CYP2B6 EFNA1 ENO1 FBP1 FCGR3B FIG4 FUT1 GGT1 GPC3 GPNMB HK2 ICAM1 IDH1 IDH2 KLRK1 LDHA LGALS1 LGALS3 MCAT MICA MRC1 MSLN MUTYH NEIL1 OGG1 OPCML PAFAH1B1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G15 PLA2G4A PLA2G7 PSMD10 PTEN PTGES PTGS2 RECK SCP2 SIRT2 SMUG1 SPHK1 STS TNFRSF10C UNG	100507436 10232 10457 1048 1087 1116 113189 11332 142 1544 1555 1588 189 1942 2023 220 2203 2215 22914 22933 23583 23659 240 246 250 2523 26033 2678 2719 27349 308 3099 3383 34 3417 3418 353 3939 3956 3958 412 4360 4595 4968 4978 5048 5067 5290 5291 5293 5294 5311 5315 5321 55902 5716 5728 5743 6342 7374 7941 79661 8434 847 8794 8877 929 9536 960 9896	Homo sapiens (human)
DOID:13884	sick sinus syndrome Aliases: sinus node infection	ACADM ACE ACOT7 ALDH2 ALG10 ALG10B APRT CACNA2D1 CACNA2D2 CALR CAT CD38 CHI3L1 CHPT1 CPT1A CPT2 CYP19A1 EPHX2 GLA GPC3 GPD1L GYG1 HACD1 HADHA HADHB HJV HSPG2 ICAM1 IDS ITPKB LGALS3 PCCA PCCB PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PRKAA2 PTGS2 SCD SELP SIGLEC7 SLC33A1 SMUG1 SQLE UGCG VCAM1	1116 11332 1374 1376 144245 148738 151056 1588 1636 2053 217 23171 23583 27036 2717 2719 2992 3030 3032 3339 3383 34 3423 353 3707 3958 5095 5096 5130 5236 5290 5291 5293 5294 5563 56994 5743 6319 6403 6713 7357 7412 781 811 847 84920 9197 9200 9254 952	Homo sapiens (human)
DOID:1289	neurodegenerative disease Aliases: degenerative disease	ACADM ACE ACHE ACO2 ACOX1 ACSBG1 ADPRS AGPAT3 AKR1A1 ALDH2 ALOX12 ALOX5 ALPP ARSA ASAH1 ATP6AP2 ATRNL1 B3GAT1 CAT CCDC115 CD14 CD33 CD38 CHAT CHGA CHI3L1 CHIT1 CLEC10A CLEC16A CLN5 CNTN2 COLEC11 COMT CYP19A1 CYP27A1 CYP2B6 CYP2U1 CYP46A1 CYP7B1 DAG1 DEGS1 DEGS2 DHCR24 DLST ELOVL4 ENO2 EPM2A FCN2 FDPS FIG4 FOLR2 G6PD GAA GAD1 GALC GAPDH GBA1 GDPD5 GLB1 GLO1 GLUL GM2A GPNMB GPX3 GUSB HEXA HEXB HIBCH HK1 HK2 HPGDS HPSE ICAM1 IDH2 INPPL1 KL L2HGDH LGALS3 LIPC LPL MANEAL MGLL MRC1 MTM1 MTMR2 MUTYH MYORG NAGLU NAGPA NAMPT NDUFAB1 OARD1 OGA OGDH OGG1 OGT PARP10 PARP1 PDIA3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G1B PLA2G2A PLA2G4A PLA2G5 PLA2G6 PLB1 PLCG2 PNP PNPLA6 PNPLA7 PPT1 PRKAA2 PRKAG2 PRKAG3 PRNP PTEN PTGES3 PTGES PTGS2 QPRT RENBP RPE SARM1 SCP2 SDHA SFTPA1 SGPL1 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC33A1 SMUG1 SPHK2 SPTLC1 SPTLC3 STS SUCLA2 SYNJ1 TIGAR TKT TMED9 TPI1 UNG VCAN	10135 10159 10327 10457 10462 10558 10724 10728 10855 10858 10908 1103 1113 1116 1118 11343 113612 1203 123099 1312 142 1462 149175 151056 1555 1588 1593 1605 1636 1718 1743 2026 217 221443 2220 2224 22933 23098 23205 23274 23475 2350 23583 239 240 250 2539 2548 2571 2581 2597 26033 26275 2629 26503 27036 27087 2720 27306 2739 2752 2760 283871 2878 2923 2990 3073 3074 3098 3099 3383 34 3418 3636 375775 3958 3990 4023 410 412 427 43 4360 4534 4595 4669 4706 4860 4967 4968 50 51 51172 51422 51548 5290 5291 5293 5294 5311 5319 5320 5321 5322 5336 53632 54732 54936 55304 5538 5563 5621 56848 56894 57103 5728 5743 57462 5973 6120 6342 6389 6448 6476 653509 6785 6900 7086 7167 7374 78989 7957 79944 81544 8398 84317 847 8473 84875 8560 8803 8867 8879 8898 9197 929 9365 9420 945 952 9536 9896	Homo sapiens (human)
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	ACADM ACAT1 ACSF3 AGXT ALG11 ALPL CHKB CYP27A1 ECHS1 FUT1 G6PD GALK1 GALT GCDH GLA GLB1 GPD1 HADHA HAO1 HAO2 HEXA HEXB HIBCH HPRT1 HSD11B2 IDUA LCAT LDHB MLYCD MMUT MRC1 PDHA1 PLA2G4A PLA2G7 PMM2 SGPL1 SLC37A4 STS SUMF1 TKT TNKS TPI1 TYMP	1120 1593 189 1890 1892 197322 23417 249 2523 2539 2542 2584 2592 26275 2639 2717 2720 2819 285362 3030 3073 3074 3251 3291 34 3425 38 3931 3945 412 4360 440138 4594 51179 5160 5321 5373 54363 7086 7167 7941 8658 8879	Homo sapiens (human)
DOID:7327	pseudosarcomatous fibromatosis Aliases: Fasciitis - nodular Pseudosarcomatous Fasciitis nodular fasciitis	ACADM ACADVL CPT2 CYP2C8 DCN DPAGT1 FKRP HADHA HADHB HSPG2 LDHA PFKM PGAM2 PGK1 PLA2G2A PLA2G6 PTGS2 PYGM SOAT1	1376 1558 1634 1798 3030 3032 3339 34 37 3939 5213 5224 5230 5320 5743 5837 6646 79147 8398	Homo sapiens (human)
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ACADM ACADVL AGL ALG14 ALG2 B3GALNT2 B4GALT1 B4GAT1 CHKB COG7 COG8 CPT1A CPT2 CRPPA DAG1 DOLK DPAGT1 DPM1 DPM2 DPM3 ENO3 FKRP FKTN GAA GFPT1 GMPPB GNE HSPG2 INPP5K LARGE1 LDHA LPIN1 OCRL PGAM2 PIGY PKD1 PLA2G6 PNPLA2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM SDHA SUCLA2 SYNJ1 TMEM165	10020 10585 11041 1120 1374 1376 148789 1605 178 1798 199857 2027 2218 22845 23175 2548 2673 2683 29925 29954 3339 34 37 3939 4952 51763 5224 5310 54344 55624 55858 56983 57104 5837 6389 729920 79147 8398 84197 84342 84892 84992 85365 8803 8813 8818 8867 91949 9215	Homo sapiens (human)
DOID:3650	lactic acidosis	ACADM ACADVL ACAT1 AGK AGXT ALDH6A1 ALDH7A1 ALDOB AMT BCKDHA BCKDHB CHAT CYP11A1 CYP11B2 CYP27B1 DBT DLAT DLD ECHS1 FBP1 FH G6PC1 GALT GCDH GLYCTK HADH HADHA HADHB HIBCH HMGCL HSD3B2 ICAM1 LCT MCEE MLYCD OGDH PC PCCA PCCB PCK1 PDHA1 PDHB PDHX PTGS1 PYGL SDHA SLC2A2 SLC37A4 SLC3A1 SLC5A1 SUCLA2 SUCLG1	1103 132158 1583 1585 1594 1629 1737 1738 189 1892 2203 2271 229 23417 2538 2542 2592 26275 2639 275 3030 3032 3033 3155 3284 3383 34 37 38 3938 4329 4967 501 5091 5095 5096 5105 5160 5162 55750 5742 5836 593 594 6389 6514 6519 6523 8050 84693 8802 8803	Homo sapiens (human)
DOID:0080153	medium chain acyl-CoA dehydrogenase deficiency	ACADM ACADS ARSA CPT1A CPT2 SLC17A5	1374 1376 26503 34 35 410	Homo sapiens (human)

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