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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 **626 - 650** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
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: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: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: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: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:4724	brain edema Aliases: intracranial swelling wet brain	ACADM BCKDHA BCKDHB CPT2 DBT ICAM1	1376 1629 3383 34 593 594	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: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: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:0090031	D-bifunctional protein deficiency	ACADM CPT1A EHHADH HSD17B4 PFKM PGAM2	1374 1962 3295 34 5213 5224	Homo sapiens (human)
DOID:1607	hypoglycemic coma	ACADM GCK HADH HMGCL	2645 3033 3155 34	Homo sapiens (human)
DOID:0080154	short chain acyl-CoA dehydrogenase deficiency	ACADS ACADSB DLD	1738 35 36	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: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:0060578	Noonan syndrome 1 Aliases: NS1	ACADS ACHE AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GBE1 GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2632 2653 2720 2731 275 2821 3339 35 410 412 414 43 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:12506	Bell's palsy Aliases: Bell palsy Bell's (facial) palsy	ACADS ACSL4 AGRN ALG13 ALG14 ALG2 ASAH1 CHKB DPAGT1 FKRP GFPT1 GMPPB GNE HPGDS IL1RAPL1 LARGE1 MTM1 MTMR14 MTMR2 POMT1 POMT2 PTDSS1 SMUG1	10020 10585 11141 1120 1798 199857 2182 23583 2673 27306 29925 29954 35 375790 427 4534 64419 79147 79868 85365 8898 9215 9791	Homo sapiens (human)
DOID:1756	facial nerve disease	ACADS ACSL4 AGRN ALG13 ALG14 ALG2 ASAH1 CHKB DPAGT1 FKRP GFPT1 GMPPB GNE HPGDS IL1RAPL1 LARGE1 MTM1 MTMR14 MTMR2 POMT1 POMT2 PTDSS1 SMUG1	10020 10585 11141 1120 1798 199857 2182 23583 2673 27306 29925 29954 35 375790 427 4534 64419 79147 79868 85365 8898 9215 9791	Homo sapiens (human)
DOID:13934	facial paralysis Aliases: Facial Palsy	ACADS ACSL4 AGRN ALG13 ALG14 ALG2 ASAH1 CHKB DPAGT1 FKRP GFPT1 GMPPB GNE HPGDS IL1RAPL1 LARGE1 MTM1 MTMR14 MTMR2 POMT1 POMT2 PTDSS1 SMUG1	10020 10585 11141 1120 1798 199857 2182 23583 2673 27306 29925 29954 35 375790 427 4534 64419 79147 79868 85365 8898 9215 9791	Homo sapiens (human)
DOID:0050426	Stevens-Johnson syndrome	ACADS ACSS2 AKR1B1 ALOX5 CD33 CYP2B6 CYP2C19 CYP2C9 CYP3A4 FOLR1 FOLR2 HSPG2 MASP2 MICA PARP1 PLA2G15 PTGIS PTGS2 SDHD SGSH SLC17A5 TNF UPP1	100507436 10747 142 1555 1557 1559 1576 231 2348 2350 23659 240 26503 3339 35 55902 5740 5743 6392 6448 7124 7378 945	Homo sapiens (human)
DOID:0050185	erythema multiforme	ACADS ACSS2 CYP2C19 FOLR1 FOLR2 HSPG2 MASP2 PLA2G15	10747 1557 2348 2350 23659 3339 35 55902	Homo sapiens (human)
DOID:2962	Cockayne syndrome Aliases: Neill-Dingwall syndrome	ACADS AKR1B1 ALDH2 AMT ANXA5 ARSA ARSD B4GALT7 BAAT CAT CD38 CHPT1 COMT CYP11A1 CYP3A5 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 OLR1 PARP1 PCYT1A PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PKM PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 1312 142 1577 1583 1605 1634 217 231 2348 2597 2653 2720 2731 275 2821 308 3339 35 410 412 414 4968 4973 5130 5224 5290 5291 5293 5294 5315 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365 952	Homo sapiens (human)
DOID:0060585	Noonan syndrome 7 Aliases: NS7	ACADS AMT ARSA ARSD B4GALT7 BAAT BRAF CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 673 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS EXT1 FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2131 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:11983	Prader-Willi syndrome Aliases: Prader Willi syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GHRL GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 51738 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)

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