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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 **2476 - 2500** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:12705	Friedreich ataxia Aliases: Friedreich's ataxia Friedreich's tabes	ACO2 CAT COG5 DLD GAA GPAA1 GPX1 HPGDS HSD17B4 ICAM1 LPL PIP5K1B PRKAA2 PRNP PTGS2 VCAM1	10466 1738 2548 27306 2876 3295 3383 4023 50 5563 5621 5743 7412 8395 847 8733	Homo sapiens (human)
DOID:1271	capillary disease Aliases: disease of capillaries	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 84720 84992 8526 8813 93210 9487	Homo sapiens (human)
DOID:12711	black piedra	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:12712	nephronophthisis Aliases: medullary cystic disease medullary cystic kidney	ACE AGXT ALDH3A2 LGALS1 MLYCD UMOD	1636 189 224 23417 3956 7369	Homo sapiens (human)
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	ABO ACAA2 ACACA ACE ACO2 AKR1B10 AKR1B1 ALDH7A1 ARSD CAT CD14 CD44 CEL CLEC1B CYP1A1 CYP1A2 CYP1B1 CYP3A5 CYP3A7 DCN DPM2 EPHX2 GAD1 HADHA HPGDS HSD11B2 ICAM1 IL1R1 KL LCT LGALS3 LPCAT1 MBL2 MDH1 MTM1 NAAA NAMPT NDST1 NT5E PAFAH1B1 PARP9 PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLD1 PTGS2 RENBP SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SLC2A10 SMPD1 SMUG1 SRGN TM7SF2 TPI1 UGT1A1 UGT8	10135 10449 1056 10998 151056 1543 1544 1545 1551 1577 1634 1636 2053 231 23583 2571 27163 27306 28 3030 31 3291 3340 3383 3554 3938 3958 414 4153 4190 4534 4907 50 501 5048 51266 5290 5291 5293 5294 5319 5320 5321 5329 5337 54658 5552 57016 5743 5973 6440 6441 653509 6609 7108 7167 729238 7368 7941 79888 81031 83666 8398 8399 847 8818 929 9365 9468 960	Homo sapiens (human)
DOID:1272	telangiectasis Aliases: telangiectasia	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 84720 84992 8526 8813 93210 9487	Homo sapiens (human)
DOID:12720	cerebral atherosclerosis	ACE ACHE IMPA1	1636 3612 43	Homo sapiens (human)
DOID:12721	multiple epiphyseal dysplasia Aliases: polyepiphyseal dysplasia	ACAN ACHE AKR1B1 ALDH3A2 ALG9 ALPL B3GAT3 B4GALT7 CD38 CHST1 CHST3 COL9A2 CTSA CYP2B6 CYP2C19 CYP2C9 EBP ENPP1 EXTL3 GALNS GLB1 GNPTAB HS6ST1 HSPG2 IDUA LFNG MICA NAGLU NANS NEU1 PAPSS2 PGM3 PTEN SGSH SLC26A2 SLC35A3 SLC35D1 SMUG1 XYLT1	100507436 10682 11285 1298 1555 1557 1559 176 1836 2137 224 231 23169 23443 23583 249 2588 26229 2720 3339 3425 3955 43 4669 4758 5167 5238 54187 5476 5728 64131 6448 79158 79796 8534 9060 9394 9469 952	Homo sapiens (human)
DOID:1273	respiratory syncytial virus infectious disease Aliases: RSV respiratory syncytial virus	ACE CD14 CHI3L1 FCGR3B GPI HPGDS ICAM1 IL18R1 ISYNA1 MICA NCAM1 PTGDS PTGIS PTGS2 SFTPA1 SFTPA2 SFTPC SFTPD SIGLEC1 SMPD1 STS TLR4	100507436 1116 1636 2215 27306 2821 3383 412 4684 51477 5730 5740 5743 6440 6441 653509 6609 6614 7099 729238 8809 929	Homo sapiens (human)
DOID:12732	intermediate uveitis Aliases: chronic cyclitis peripheral uveoretinitis	PTEN TNF	5728 7124	Homo sapiens (human)
DOID:12733	hypercementosis Aliases: Cementation hyperplasia	ENPP1	5167	Homo sapiens (human)
DOID:12783	migraine without aura Aliases: common migraine	ACE CAT COMT DHCR24 ENO2 GFRA1 HPGDS PLAUR PNPLA6 TNF	10908 1312 1636 1718 2026 2674 27306 5329 7124 847	Homo sapiens (human)
DOID:12785	diabetic polyneuropathy Aliases: Diabetes mellitus with polyneuropathy Polyneuropathy in diabetes	ACE ACSL1 AKR1B1 CAT ENO2 GLO1 GPX1 PARP1 PMM2 PNPLA6 PTEN PTGS2 RENBP SMPD1 ST3GAL4 TKT	10908 142 1636 2026 2180 231 2739 2876 5373 5728 5743 5973 6484 6609 7086 847	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: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: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: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:12803	Sly syndrome Aliases: MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII	GUSB IDUA	2990 3425	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:1283	enterocele Aliases: vaginal enterocele	ACAN ACE AGA ARSA CD38 CD44 CHST3 FUCA1 GALNS GNPTAB GPC6 HGSNAT NEU1 PIK3CA PKM PTGDS SMUG1 SRGN SUCLA2 TMTC3	10082 138050 160418 1636 175 176 23583 2517 2588 410 4758 5290 5315 5552 5730 79158 8803 9469 952 960	Homo sapiens (human)
DOID:12835	quadriplegia Aliases: tetraplegia	ALDH3A2 ARSA COG2 COLGALT1 CYB5R3 DEGS1 ELOVL4 FUCA1 GAD1 GBE1 GLB1 GLYCTK PDHX PLA2G6 PNP POMT1 PRPS1 RPE ST3GAL5 SYNJ1	10585 132158 1727 224 22796 2517 2571 2632 2720 410 4860 5631 6120 6785 79709 8050 8398 8560 8867 8869	Homo sapiens (human)
DOID:12841	ancylostomiasis	CHIT1	1118	Homo sapiens (human)
DOID:12842	Guillain-Barre syndrome Aliases: Infectious neuronitis Post-infectious polyneuritis Postinfectious polyneuritis acute infective polyneuritis acute inflammatory demyelinating polyradiculopathy acute postinfectious polyneuropathy	CNTN1 CNTN2 CSGALNACT1 ENO2 FCGR3B GALE GBE1 GLO1 HPRT1 ICAM1 ISYNA1 MAG MBL2 MRC1 PKD1 PLA2G1B PLB1 PTGDS PTGS1 PTGS2 SIGLEC7 SIGLEC9 SMPD2 SMPD3 ST6GALNAC4	1272 151056 2026 2215 2582 2632 27036 27090 27180 2739 3251 3383 4099 4153 4360 51477 5310 5319 55512 55790 5730 5742 5743 6610 6900	Homo sapiens (human)
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	ABAT ABO ACACA ACADSB ACAN ACE ACSL4 ACSM3 AKR1A1 ALDH1A3 ALDH2 ALDH5A1 ALG13 AMT AMY1A AMY1B AMY1C APRT ARSA ARSD ARSI ATP6AP2 ATP6V1A B3GLCT BST1 CALR CAT CD38 CDH13 CHAT CLEC7A CMAS CNTN2 CNTN3 CNTN4 CNTN5 CNTN6 COMT CS CYP11A1 CYP11B1 CYP11B2 CYP19A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP2C19 CYP2E1 CYP2R1 DGCR2 DHCR24 DHCR7 DLD ELOVL2 ENO2 EPHX2 EXT1 FADS1 FADS2 FH FOLR1 FOLR2 G6PD GAD1 GAD2 GALNT14 GALNT17 GLDC GLO1 GLUL GMDS GNPAT GNPTAB GPX1 HAGH HPGDS IDS IL18RAP IL1RAP IL1RAPL1 IL1RAPL2 L1CAM LDHB LIPG LYZ MACROD2 MAN1B1 MBD4 MBOAT7 MRC1 NAGA NAGLU NCAM1 NTM NTNG1 OCRL OGG1 PAFAH1B1 PC PCYT1A PIGH PIGL PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G12A PLA2G4A PLA2G4C PLAUR PLCB1 POMGNT1 PTDSS1 PTEN PTGES3 PTGES PTGS1 PTGS2 RTN4R SCD SDC2 SDC4 SDHB SDHC SDHD SHMT1 SHMT2 SLC25A12 SLC2A3 SLC33A1 SLC35A3 SLC35G1 SMC3 SOAT1 SPHK2 SRD5A3 ST8SIA2 STS SYNJ1 TM7SF2 TNF TPI1 UGT1A1 UPP2	1012 10159 10327 10728 1103 11141 11253 120227 1312 140733 1431 145173 151531 152330 1544 1545 1557 1571 1583 1584 1585 1588 1589 1593 159371 1636 1717 1718 1738 176 18 2026 2053 2131 217 2182 220 2271 22854 23236 23443 2348 2350 2539 2571 2572 26280 27255 27306 2731 2739 275 2752 276 2762 277 278 28 2876 3029 31 340075 3423 353 3556 36 3897 3945 3992 4069 410 412 414 4360 4668 4669 4684 4952 4968 5048 5067 50863 5091 5130 523 5283 5290 5291 5293 5294 5311 5321 5329 53942 54658 54898 55624 55907 56848 5728 5742 5743 6296 6319 6383 6385 6390 6391 6392 64409 64581 6470 6472 65078 6515 6646 683 6900 7108 7124 7167 79143 7915 79158 79623 79644 79868 811 8128 81579 8443 847 8604 8605 8807 8867 8930 9126 9197 9388 9415 9487 952 9536 9791 9993	Homo sapiens (human)

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