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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 **7701 - 7725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0050847	sleep apnea	ACE ADIPOQ CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LEPR LGALS3 NANS PTEN PTGS2	10020 1544 1573 1636 3423 3953 3958 54187 55556 5728 5743 79158 9370	Homo sapiens (human)
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	ACE CYP11B1 CYP11B2 CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2 SLC2A10	10020 1544 1573 1584 1585 1636 3423 3958 54187 55556 5728 5743 79158 81031	Homo sapiens (human)
DOID:0060478	Zika fever Aliases: Zika virus disease	ALDH5A1 B3GAT1 CAT CD14 CD48 CH25H FCGR3B GAPDH GNE ISYNA1 MOGS PARP12 PARP1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG RPE SELP SMPD3 SOAT1	10020 142 2215 2597 27087 2923 51477 5290 5291 5293 5294 55512 6120 6403 64761 6646 7841 7915 847 9023 929 962	Homo sapiens (human)
DOID:12802	mucopolysaccharidosis I Aliases: Hurler syndrome Hurler-Scheie syndrome Lipochondrodystrophy MPS I - Hurler syndrome Mucopolysaccharidosis, MPS-I Mucopolysaccharidosis, type 1 iduronidase deficiency disease	AGA ARSB CAT CTSA FUCA1 FUT1 GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT IDS IDUA MAN2B1 NAGLU NEU1 SGSH SUMF1	10020 138050 175 2517 2523 2720 2799 285362 2990 3423 3425 411 4125 4669 4758 5476 6448 79158 84572 847	Homo sapiens (human)
DOID:0111390	mucopolysaccharidosis Ih Aliases: Dysostosis multiplex syndrome Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form dysostosis multiplex gargoylism	AGA ARSB CAT CTSA FUCA1 FUT1 GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT IDS IDUA MAN2B1 NAGLU NEU1 SGSH SUMF1	10020 138050 175 2517 2523 2720 2799 285362 2990 3423 3425 411 4125 4669 4758 5476 6448 79158 84572 847	Homo sapiens (human)
DOID:0111078	tibial muscular dystrophy Aliases: Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy	COMT GNE PIK3C2A	10020 1312 5286	Homo sapiens (human)
DOID:0060320	inguinal hernia	AGA ARSA ARSB ATP6V0A2 ATP6V1A B3GLCT COMT CYP19A1 DSE ELOVL4 GALNS GLB1 GNE GNPTAB GPC3 GUSB IDS IDUA INPP5E LFNG MAN2B1 NEU1 OCRL PAFAH1B1 PIGQ PIGY PLD1 PTDSS1 SLC26A2 SLC2A10 SMC3 SRD5A3 TGDS	10020 1312 145173 1588 175 1836 23483 23545 2588 2719 2720 2990 29940 3423 3425 3955 410 411 4125 4758 4952 5048 523 5337 56623 6785 79158 79644 81031 84992 9091 9126 9791	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:11963	esophagitis Aliases: acute esophagitis	ABAT ACE AGRN ALPP ARSA ATP6V1A ATRNL1 CALR CHAT COG7 COMT CYP2C19 DDOST DEGS1 ECI1 EXT2 FCSK FUT3 GNE HPGDS IL18R1 IL1R1 MCEE NT5E NTM NTNG1 OCRL PGM3 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PLCE1 PRKCSH PTGES PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPC SLC2A10 SLC35A2 SMC3 SYNJ1 TNF	10020 1103 1312 151056 1557 1632 1636 1650 18 197258 2132 22854 23556 250 2525 26033 27306 3554 375790 410 4907 4952 50863 51196 523 5238 5277 5290 5291 5293 5294 5589 5742 5743 6440 653509 7124 729238 7355 81031 811 84693 8560 8809 8867 9126 91949 9536	Homo sapiens (human)
DOID:13976	peptic esophagitis Aliases: Peptic reflux disease Reflux oesophagitis reflux esophagitis	ABAT ACE AGRN ALPP ARSA ATP6V1A ATRNL1 CALR CHAT COG7 COMT CYP2C19 DDOST DEGS1 ECI1 EXT2 FCSK FUT3 GNE HPGDS IL18R1 IL1R1 MCEE NT5E NTM NTNG1 OCRL PGM3 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PLCE1 PRKCSH PTGES PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPC SLC2A10 SLC35A2 SMC3 SYNJ1 TNF	10020 1103 1312 151056 1557 1632 1636 1650 18 197258 2132 22854 23556 250 2525 26033 27306 3554 375790 410 4907 4952 50863 51196 523 5238 5277 5290 5291 5293 5294 5589 5742 5743 6440 653509 7124 729238 7355 81031 811 84693 8560 8809 8867 9126 91949 9536	Homo sapiens (human)
DOID:8534	gastroesophageal reflux disease Aliases: Acid reflux GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux	ABAT ACE AGRN ALPP ARSA ATP6V1A ATRNL1 CALR CHAT COG7 COMT CYP2C19 DDOST DEGS1 ECI1 EXT2 FCSK FUT3 GNE HPGDS IL18R1 IL1R1 MCEE NT5E NTM NTNG1 OCRL PGM3 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLB1 PLCE1 PRKCSH PTGES PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPC SLC2A10 SLC35A2 SMC3 SYNJ1 TLR2	10020 1103 1312 151056 1557 1632 1636 1650 18 197258 2132 22854 23556 250 2525 26033 27306 3554 375790 410 4907 4952 50863 51196 523 5238 5277 5290 5291 5293 5294 5320 5589 5742 5743 6440 653509 7097 729238 7355 81031 811 84693 8560 8809 8867 9126 91949 9536	Homo sapiens (human)
DOID:12799	mucopolysaccharidosis II Aliases: Hunter syndrome Hunter's syndrome MPS II - Hunter syndrome Mucopolysaccharidosis, MPS-II deficiency of iduronate-2-sulphatase	ACAN AGA APRT ARSA ARSB ARSG ARSH CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1	10020 10724 138050 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 79158 821 84572 847 8692 912 952	Homo sapiens (human)
DOID:12800	mucopolysaccharidosis VI Aliases: MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase	ACAN AGA APRT ARSA ARSB ARSG ARSH CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1 TNF	10020 10724 138050 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 7124 79158 821 84572 847 8692 912 952	Homo sapiens (human)
DOID:12798	mucopolysaccharidosis	ACAN AGA APRT ARSA ARSB ARSG ARSH ARSK CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1	10020 10724 138050 153642 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 79158 821 84572 847 8692 912 952	Homo sapiens (human)
DOID:12801	mucopolysaccharidosis III Aliases: Mucopolysaccharidosis, MPS-III N-sulphoglucosamine sulphohydrolase deficiency Sanfilippo's syndrome heparan sulfate sulfatase deficiency	ACAN AGA APRT ARSA ARSB ARSG ARSH CANX CAT CD1D CD38 CHAT CTSA DPEP1 EXT1 EXT2 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NAGPA NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1	10020 10724 1103 138050 159371 175 176 1800 1836 2131 2132 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 51172 5476 6448 6677 79158 821 84572 847 8692 912 952	Homo sapiens (human)
DOID:4543	retrograde amnesia	ACHE ACSF3 ALOX5 ARSA ARSD CAT CD44 CD74 CHAT CHI3L1 COMT CPT1A CYP1A2 CYP1B1 ELOVL3 FKRP FUT10 GAD1 GLUL GNE GPX1 HGSNAT HSD11B1 HSD11B2 IDS INPPL1 KL LGALS3 LGALS4 MYORG NAGLU NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G6 PLD1 PLD2 PPT1 PRKAA2 PRNP PSAP PTEN PTGS1 PTGS2 SDHD SFTPA1 SLC17A5 SMPD1 SMUG1 SPHK2 ST3GAL4 STS SUCLA2 SYNJ1 UGT1A1	10020 10724 1103 1116 1312 1374 138050 142 1544 1545 197322 23583 240 2571 26503 2752 2876 3290 3291 3423 3636 3958 3960 410 412 414 43 4669 4907 5290 5291 5293 5294 5315 5321 5337 5338 54658 5538 5563 5621 5660 56848 5728 5742 5743 57462 6392 6484 653509 6609 79147 83401 8398 847 84750 8803 8867 9365 960 972	Homo sapiens (human)
DOID:12804	mucopolysaccharidosis IV Aliases: Mucopolysaccharidosis, MPS-IV deficiency of N-acetylgalactosamine-6-sulphatase deficiency of chondroitinsulphatase galactosamine-6-sulfatase deficiency	ACAN AGA ALDH3A2 ALG9 ALPL APRT ARSA ARSB ARSG ARSH B3GAT3 B4GALT7 CANX CAT CD1D CD38 CHST1 CHST3 COL9A2 CTSA DPEP1 EBP ENPP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HS6ST1 HSPG2 HYAL1 HYAL2 IDS IDUA L1CAM LFNG MAN2B1 NAGLU NANS NEU1 NT5E OGA PAPSS2 PGM3 PTEN SGSH SLC26A2 SLC35A3 SLC35D1 SLC35G1 SMUG1 SPAM1 ST3GAL1 ST3GAL2 ST3GAL4 SUMF1 XYLT1	10020 10682 10724 11285 1298 138050 159371 175 176 1800 1836 2135 2137 224 22901 23169 23443 23583 249 2517 2523 2588 26229 2720 2799 285362 2990 3339 3373 3423 3425 347527 353 3897 3955 410 411 4125 4669 4758 4907 5167 5238 54187 5476 5728 64131 6448 6482 6483 6484 6677 79158 79796 821 84572 847 8534 8692 9060 912 9394 9469 952	Homo sapiens (human)
DOID:633	myositis Aliases: Inflammatory disorder of muscle	ACADL ACE ACHE ALOX5 APRT ARSF CD177 CD55 CD74 CHI3L1 COMT CPT2 CRPPA DAG1 DGKQ DSE ENO3 EXT1 FKRP FKTN GALNS GLA GNE HADHA HADHB HPGDS HPRT1 HSD11B1 HSPG2 IL1RAPL2 KL LALBA LDHA LPIN1 LPIN2 MBL2 MRC1 PIGT PIK3C2A PKM PNPLA2 POMT1 PTGS1 PTGS2 SLC17A5 SMUG1 TNF	10020 10585 1116 1312 1376 1604 1605 1609 1636 2027 2131 2218 23175 23583 240 2588 26280 26503 2717 27306 29940 3030 3032 3251 3290 33 3339 353 3906 3939 4153 416 43 4360 51604 5286 5315 57104 57126 5742 5743 7124 729920 79147 9365 9663 972	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: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:440	neuromuscular disease	ACE ACHE ACSL4 APRT CHAT DAG1 FKRP GAA GFPT1 GNE GPI MAG MGAM MTM1 PIK3CA PIK3CB PIK3CD PKD1L2 POMT1 PTGS1 TPI1	10020 10585 1103 114780 1605 1636 2182 2548 2673 2821 353 4099 43 4534 5290 5291 5293 5742 7167 79147 8972	Homo sapiens (human)
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	ACE ACHE CEACAM6 CHI3L1 CHIT1 CYP27A1 DLD EXT1 EXT2 FUT10 GFRA2 GLCE GLDC GNE MASP2 PLA2G6 PRNP PSAP SARM1 SMUG1 SPTLC1 ST3GAL4 SUCLA2 TMED9	10020 10558 10747 1116 1118 1593 1636 1738 2131 2132 23098 23583 26035 2675 2731 43 4680 54732 5621 5660 6484 8398 84750 8803	Homo sapiens (human)
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	ABAT ACE ACHE ALOX5 CAT CEACAM6 CHI3L1 CHIT1 CYP27A1 DLD EXT1 EXT2 FUT10 GBA1 GFRA2 GLCE GLDC GNE MASP2 PLA2G6 PRNP PSAP PTEN SARM1 SIGLEC7 SMUG1 SPTLC1 ST3GAL4 SUCLA2 TMED9	10020 10558 10747 1116 1118 1593 1636 1738 18 2131 2132 23098 23583 240 26035 2629 2675 27036 2731 43 4680 54732 5621 5660 5728 6484 8398 847 84750 8803	Homo sapiens (human)

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