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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 **1101 - 1125** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:3868	melanotic medulloblastoma Aliases: Medulloblastoma, melanotic	ACHE ALOX5 APRT ASAH1 CALR CANX CD1D CHPT1 COL9A2 CYP1A1 CYP1B1 CYP2B6 CYP3A5 DAG1 DHDDS EFNA5 FOLR1 FUT4 GPC3 GYS2 HK2 HPGDS HPSE IDH1 IDH2 IDUA INPP5E LDHA LDHB MMUT NT5E PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKM POMGNT1 PTEN PTGDS PTGS2 SDC1 SIGLEC7 SULT1E1 TDG TNKS TREH VCAN	10855 11181 1298 142 1462 1543 1545 1555 1577 1605 1946 2348 240 2526 27036 2719 27306 2998 3099 3417 3418 3425 353 3939 3945 427 43 4594 4907 5048 5130 5290 5291 5293 5294 5315 55624 56623 56994 5728 5730 5743 6382 6783 6996 79947 811 821 8658 912	Homo sapiens (human)
DOID:3864	adult medulloblastoma Aliases: adult brain medulloblastoma	ACHE ALOX5 APRT ASAH1 CALR CANX CD1D CHPT1 COL9A2 CYP1A1 CYP1B1 CYP2B6 CYP3A5 DAG1 DHDDS EFNA5 FOLR1 FUT4 GPC3 GYS2 HK2 HPGDS HPSE IDH1 IDH2 IDUA INPP5E LDHA LDHB MMUT NT5E PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKM POMGNT1 PTEN PTGDS PTGS2 SDC1 SIGLEC7 SULT1E1 TDG TNKS TREH VCAN	10855 11181 1298 142 1462 1543 1545 1555 1577 1605 1946 2348 240 2526 27036 2719 27306 2998 3099 3417 3418 3425 353 3939 3945 427 43 4594 4907 5048 5130 5290 5291 5293 5294 5315 55624 56623 56994 5728 5730 5743 6382 6783 6996 79947 811 821 8658 912	Homo sapiens (human)
DOID:3861	medullomyoblastoma	ACHE ALOX5 APRT ASAH1 CALR CANX CD1D CHPT1 COL9A2 CYP1A1 CYP1B1 CYP2B6 CYP3A5 DAG1 DHDDS EFNA5 FOLR1 FUT4 GPC3 GYS2 HK2 HPGDS HPSE IDH1 IDH2 IDUA INPP5E LDHA LDHB MMUT NT5E PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKM POMGNT1 PTEN PTGDS PTGS2 SDC1 SIGLEC7 SULT1E1 TDG TNKS TREH VCAN	10855 11181 1298 142 1462 1543 1545 1555 1577 1605 1946 2348 240 2526 27036 2719 27306 2998 3099 3417 3418 3425 353 3939 3945 427 43 4594 4907 5048 5130 5290 5291 5293 5294 5315 55624 56623 56994 5728 5730 5743 6382 6783 6996 79947 811 821 8658 912	Homo sapiens (human)
DOID:3857	large cell medulloblastoma Aliases: Anaplastic medulloblastoma	PARP1	142	Homo sapiens (human)
DOID:3852	Peutz-Jeghers syndrome Aliases: Colonic hamartomatous polyp Peutz Jeghers colon polyp Peutz Jeghers polyp Peutz-Jeghers polyp of small Intestine gastric Peutz-Jeghers polyp peutz-jeghers small bowel hamartoma	ACHE APRT CHGA CYP19A1 CYP1B1 CYP2B6 IDH2 KLRD1 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PRKAA2 PTEN PTGS2 PYGM SDHB SDHC SDHD SLC2A3 SMUG1 SORD TUSC3	10908 1113 1545 1555 1588 23583 3418 353 3824 43 4595 5290 5291 5293 5294 5563 5728 5743 5837 6390 6391 6392 6515 6652 7991	Homo sapiens (human)
DOID:3847	papillary craniopharyngioma Aliases: Papillary Rathke's Pouch tumor craniopharyngioma, papillary	ATP6AP2 CD44 CEL CYP2E1 GAD1 GPX1 HSD11B1 IDH1 LGALS1 NDUFAB1	10159 1056 1571 2571 2876 3290 3417 3956 4706 960	Homo sapiens (human)
DOID:3846	adamantinous craniopharyngioma Aliases: Adamantinous Rathke's Pouch tumor craniopharyngioma, adamantinomatous	ATP6AP2 CD44 CEL CYP2E1 GAD1 GPX1 HSD11B1 IDH1 LGALS1 NDUFAB1	10159 1056 1571 2571 2876 3290 3417 3956 4706 960	Homo sapiens (human)
DOID:3840	craniopharyngioma Aliases: neoplasm of Rathke's Pouch	ATP6AP2 CD44 CEL CYP2E1 GAD1 GPX1 HSD11B1 IDH1 LGALS1 NDUFAB1	10159 1056 1571 2571 2876 3290 3417 3956 4706 960	Homo sapiens (human)
DOID:384	Wolff-Parkinson-White syndrome Aliases: Anomalous A-V excitation Wolff-Parkinson-White pattern anomalous atrioventricular excitation	APRT ARSD B3GAT1 CNTN2 FCGR3B PRKAA2 PRKAG2 PRKAG3	2215 27087 353 414 51422 53632 5563 6900	Homo sapiens (human)
DOID:3829	pituitary adenoma Aliases: adenoma of the Pituitary gland	ALDH1A3 ALOX5 ALPL CAT CD33 CD44 CD55 CDH13 CYP19A1 CYP1A1 CYP1B1 CYP2C9 CYP2E1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 HSD11B2 IDH1 IDH2 IL18R1 LARGE1 LDHA LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PRKAA2 PTEN PTGDS PTGS1 PTGS2 SCP2 SDHA SDHB SDHC SDHD SMUG1 SOAT1 STS TBXAS1 TIPARP TMEM165 TNKS VCAN	1012 10232 10724 1462 151056 1543 1545 1559 1571 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3291 3417 3418 3939 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5563 55858 5728 5730 5742 5743 6342 6389 6390 6391 6392 64386 6646 6916 7941 8398 847 8658 8809 9215 945 960	Homo sapiens (human)
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	ACE ACSS2 ASAH2 CD44 CHPT1 CHST14 CYP2C19 CYP2E1 DCN DHDDS DSEL ECI1 FREM1 FUT3 GPC3 GPI HTR2A ICAM1 IGF2 IGF2R LFNG NDST1 PGAP3 PIGN PIGW PLA2G15 PMM2 SDHA SFTPA1 SFTPA2 SFTPC SFTPD SLC2A10 SMC3 TM7SF2 TNF VCAM1	113189 1557 1571 158326 1632 1634 1636 23556 23659 2525 2719 2821 284098 3340 3356 3383 3481 3482 3955 5373 55902 56624 56994 6389 6440 6441 653509 7108 7124 729238 7412 79947 81031 9126 92126 93210 960	Homo sapiens (human)
DOID:3818	photoallergic dermatitis Aliases: Photoallergic contact dermatitis Photoallergic eczema	AGPS	8540	Homo sapiens (human)
DOID:3817	cranial nerve palsy Aliases: Cranial nerve Paralysis	EXT1 EXT2 IDH1 IDH2 PTEN SDHB SDHC SDHD	2131 2132 3417 3418 5728 6390 6391 6392	Homo sapiens (human)
DOID:381	arthropathy Aliases: Ankylosis of joint of ankle and/or foot Ankylosis of joint of forearm Ankylosis of joint of hand Ankylosis of joint of lower leg Ankylosis of joint of upper arm Ankylosis of multiple joints Infectious arthropathy Joint ankylosis of the ankle and foot Joint ankylosis of the ankle and/or foot Joint ankylosis of the forearm Joint ankylosis of the hand Joint ankylosis of the lower leg Joint ankylosis of the pelvic region and thigh Joint ankylosis of the shoulder region Joint ankylosis of the upper arm ankylosis of ankle and foot joint ankylosis of forearm joint ankylosis of hand joint ankylosis of joint of multiple sites ankylosis of joint of pelvic region and thigh ankylosis of joint of shoulder region ankylosis of lower leg joint ankylosis of upper arm joint	ABAT ABO ACAA2 ACACA ACAN ACE ACLY ACO1 ACSL4 ACSL6 ACSS2 AGA AKR1C1 AKR1C2 ALDOA ALOX15 ALOX5 ALPL ANXA5 APRT ARSA ART1 ASAH1 B3GAT1 B4GALNT3 B4GALT7 BCKDHA BST2 CALR CAT CD14 CD209 CD22 CD248 CD38 CD44 CD55 CD74 CEMIP CH25H CHAT CHGA CHI3L1 CHI3L2 CHST11 CHST13 CHST14 CHST3 CHST4 CLC CLEC12A CLEC3A CLEC4E CLEC5A CLEC7A CNTN1 CNTN2 COG5 COL9A2 COMT CPT2 CSPG4 CYP19A1 CYP1B1 CYP2B6 CYP7B1 DCN DCXR DHCR24 DPEP1 ENO1 ENPP1 ENPP2 EXT1 EXT2 FASN FCGR3B FCN1 FH FMOD FUT1 FUT2 FUT4 GAL3ST1 GANAB GAPDH GBA1 GCK GGT1 GLA GLB1 GLO1 GLT8D1 GMDS GPC3 GPD1L GPI GPNMB GPX1 GUSB GYS1 HADHA HAS1 HIBCH HJV HK1 HK2 HMMR HPGDS HPRT1 HPSE HS6ST2 HSD11B1 HSD11B2 HYAL1 HYAL2 ICAM1 IDH2 IDH3A IL18R1 IL1R1 IL1RL2 INPP5D ISYNA1 KL KLRB1 LACC1 LAYN LCTL LGALS1 LGALS3 LGALS8 LGALS9 LYZ MASP1 MBL2 MMP17 MMP25 MRC1 MUTYH NAAA NAMPT NCAM1 NT5E OCRL OLR1 OPCML PAPSS2 PARP1 PDHA1 PDIA3 PFKFB3 PGAM1 PIGQ PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G4F PLA2G6 PLAUR PLB1 PLCD1 PLCG1 PLD1 PNPLA3 PRKAA2 PRNP PTEN PTGDS PTGES PTGS1 PTGS2 RECK RENBP SCD5 SDC1 SDC4 SDHA SELE SELL SFTPD SGSH SHMT2 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC35A1 SLC39A8 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST3GAL5 STS SULF1 SULF2 TKTL1 TM7SF2 TNKS TPI1 UST VCAM1 VCAN VTCN1 XYLT1	10090 10135 10143 10164 10449 10457 10466 10559 10855 1103 1113 1116 1117 11285 113189 1178 1272 1298 1312 1376 142 143903 144811 1462 1464 148738 151056 1545 1555 1588 160364 1604 1634 1636 1645 1646 166012 1718 175 176 18 1800 1836 197021 2023 2131 2132 2182 2194 2215 2219 226 2271 22933 23171 23193 23213 23305 2331 23583 23601 23659 240 246 249 2523 2524 2526 255189 2597 26253 26275 2629 2645 26503 2678 27036 27087 27163 2717 27180 2719 2720 27306 2739 2762 28 2821 283358 2876 2923 2990 2997 3030 3036 308 30835 3098 3099 31 3161 3251 3290 3291 3373 3383 3418 3419 353 3554 3635 3820 3956 3958 3964 3965 4069 410 412 4153 417 427 4326 4360 4595 4684 47 48 4907 4952 4973 4978 50515 51181 51477 51548 5160 5167 5168 5209 5223 5290 5291 5293 5294 5315 5319 5320 5321 5329 5333 5335 5337 5552 5563 55830 55902 55959 5621 5648 56848 57124 57214 5728 5730 5742 5743 593 5973 6382 6385 6389 6401 6402 64116 64131 64386 6441 6448 64581 6472 6646 684 6900 7108 7167 7412 79679 79966 80339 811 8277 8398 8399 8434 847 8658 8692 8808 8809 8869 8877 90161 9023 9060 9091 929 933 9365 9420 9469 9514 952 9536 960 972	Homo sapiens (human)
DOID:3805	porokeratosis Aliases: disseminated superficial actinic porokeratosis	FDPS	2224	Homo sapiens (human)
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	SLC35A2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 7355	Homo sapiens (human)
DOID:3798	pleural empyema Aliases: Empyema of pleura Empyema of pleura without fistula Empyema with no fistula Empyema with pleural fistula Empyema without mention of fistula Empyema, chest Pleural empyema with fistula Purulent pleurisy Thorax abscess abscess of pleural cavity abscess of thorax empyema empyema with fistula lung empyema pleural empyema with no fistula purulent pleuritis pyothorax	CEACAM5 HACD1	1048 9200	Homo sapiens (human)
DOID:379	external ear disease Aliases: Preauricular cyst Preauricular sinus and fistula Preauricular sinus or fistula	SMUG1	23583	Homo sapiens (human)
DOID:3783	Coffin-Lowry syndrome	CRLS1 HSD17B6 IL1RAPL1 PDHA1	11141 5160 54675 8630	Homo sapiens (human)
DOID:3781	anovulation	CYP19A1 PAPSS2	1588 9060	Homo sapiens (human)
DOID:3777	granuloma annulare Aliases: Granulome annulare	ACSL4 AKR1A1 ALDH2 ALDH3A2 CLEC7A COL9A2 EBP ELOVL4 GAPDH ICAM1 KDSR NSDHL PGM3 PIGL PLCG2 PTGS2 RENBP SOAT1 ST3GAL4 SULT2B1	10327 10682 1298 217 2182 224 2531 2597 3383 50814 5238 5336 5743 5973 64581 6484 6646 6785 6820 9487	Homo sapiens (human)
DOID:3772	intraventricular meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	ACE ACO2 ALOX5 ANXA5 APRT ASAH1 ATP6AP2 B3GAT1 B3GAT3 BAD CAT CD44 CEL CHAT CHI3L1 CHIT1 CHST15 CYP27B1 DCN ELOVL6 FASN FCGR3B FOLR2 FUT8 GLB1 HAS2 HPGDS ICAM1 IL18R1 IL1RL1 INPP5D KL LCLAT1 LDHA LGALS1 LGALS3 MBL2 MPG MRC1 NEU1 NEU3 NT5E OGG1 PARP9 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLAUR PRKAA2 PTEN PTGS2 SDC1 SDC2 SDC4 SELE SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SIRT6 SLC27A5 SMUG1 SOAT1 SPHK2 SULF1 SULF2 TM7SF2 TNF VCAM1 VCAN	10159 1056 10825 10998 1103 1116 1118 1462 1594 1634 1636 2194 2215 23213 2350 23556 23583 240 2530 253558 26229 27087 2720 27306 3037 308 3383 353 3635 3939 3956 3958 4153 427 4350 4360 4758 4907 4968 50 51363 51548 5290 5291 5293 5294 5321 5329 5563 55959 56848 572 5728 5743 6382 6383 6385 6401 6440 6441 653509 6646 7108 7124 729238 7412 79071 83666 847 8482 8809 8879 9173 9365 960	Homo sapiens (human)
DOID:3765	pseudohermaphroditism Aliases: Indeterminate sex and pseudohermaphroditism	AKR1C1 AKR1C2 AKR1C3 AKR1C4 CDIPT CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DHCR24 DHRS11 GAS1 HSD17B3 HSD17B7 HSD3B1 HSD3B2 MECR PGD PKD2 PRSS21 SRD5A2	10423 10942 1109 1555 1583 1584 1586 1588 1589 1645 1646 1718 2619 3283 3284 3293 51102 51478 5226 5311 6716 79154 8644	Homo sapiens (human)
DOID:3763	hermaphroditism	AKR1C1 AKR1C2 AKR1C3 AKR1C4 CDIPT CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DHCR24 DHRS11 GAS1 HSD17B3 HSD17B7 HSD3B1 HSD3B2 MECR PGD PKD2 PRSS21 SRD5A2	10423 10942 1109 1555 1583 1584 1586 1588 1589 1645 1646 1718 2619 3283 3284 3293 51102 51478 5226 5311 6716 79154 8644	Homo sapiens (human)

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