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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 **2326 - 2350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:11260	rabies Aliases: Lyssa	CH25H CYP1A2 CYP2C9 CYP3A4 ENOSF1 FUT2 GAS1 HPSE MTM1 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1C SOAT1	10855 1544 1559 1576 23396 2524 2619 4534 5290 5291 5293 5294 55556 6646 9023	Homo sapiens (human)	DisGeNET
DOID:12697	locked-in syndrome Aliases: Locked in syndrome Locked-in state	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)	DisGeNET DisGeNET DisGeNET
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)	DisGeNET DisGeNET DisGeNET
DOID:11256	typhus Aliases: Endemic Typhus fever Exanthematic Typhus fever Flea typhus Louse-borne [epidemic] typhus Moscow typhus Murine [endemic] typhus Typhus fever endemic flea-borne typhus epidemic louse-borne typhus	ACHE ALPI ALPP APRT CS DHCR24 LSS MTAP PTGS2 SMUG1	1431 1718 23583 248 250 353 4047 43 4507 5743	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:11100	Q fever Aliases: Infection due to Coxiella burnetii	ACHE ALPI ALPP APRT CS DHCR24 LSS MTAP PTGS2 SMUG1	1431 1718 23583 248 250 353 4047 43 4507 5743	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:10113	trypanosomiasis	ABO ACAT1 ACE ACHE ALOX5 ALPI ALPP APRT CALR COLEC11 CS CYP21A2 CYP2B6 CYP51A1 DDOST DHCR24 FCN2 FDPS G6PD GAD1 GAPDH GCK GLUL LGALS3 LGALS9 LSS MASP2 MBL2 MICA MTAP NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PLCB4 PNP PTGS2 RPIA SDC4 SIRT2 SMPD1 SMUG1 SOAT1 STS STT3A STT3B TPI1	100507436 10747 142 1431 1555 1589 1595 1636 1650 1718 201595 2220 2224 22933 22934 23236 23583 240 248 250 2539 2571 2597 2645 2752 28 353 3703 38 3958 3965 4047 412 4153 43 4507 4860 4907 5290 5291 5293 5294 5332 5743 6385 6609 6646 7167 78989 811	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	ACE CHPT1 DHDDS DLAT DLD ECHS1 OGDH PC PCK1 PCK2 PDHA1 PDHA2 PDHB PDHX	1636 1737 1738 1892 4967 5091 5105 5106 5160 5161 5162 56994 79947 8050	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3651	pyruvate carboxylase deficiency disease Aliases: deficiency of pyruvic carboxylase	ACE CHPT1 DHDDS DLAT DLD ECHS1 OGDH PC PCK1 PCK2 PDHA1 PDHA2 PDHB PDHX	1636 1737 1738 1892 4967 5091 5105 5106 5160 5161 5162 56994 79947 8050	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:4223	pyoderma	GALNS	2588	Homo sapiens (human)	DisGeNET
DOID:12639	pyloric stenosis	ACSL4 AGPAT2 ALG13 FIG4 IL1RAPL1 MTM1 SLC2A10 SLC35A2 SMC3 TMTC3	10555 11141 160418 2182 4534 7355 79868 81031 9126 9896	Homo sapiens (human)	DisGeNET
DOID:10772	thrombotic thrombocytopenic purpura Aliases: Moschcowitz's syndrome	ABO ACSS2 CD248 CD55 CLEC1B DGKE GPI PIGA PIK3CB PLA2G15 PTGS2	1604 23659 28 2821 51266 5277 5291 55902 57124 5743 8526	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:9809	hypersensitivity vasculitis	ABO ACE B3GAT1 B4GALNT1 C1GALT1 CPT1C CYP19A1 CYP2U1 CYP7B1 FCGR3B GBA2 ICAM1 L1CAM MBL2 MGAT5 NAAA PARP1 PLA2G6 PLD3 PNPLA6 SLC33A1	10908 113612 126129 142 1588 1636 2215 23646 2583 27087 27163 28 3383 3897 4153 4249 56913 57704 8398 9197 9420	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:11123	Henoch-Schoenlein purpura Aliases: Allergic purpura Autoimmune purpura Henoch-Sch?nlein purpura Henoch-Sch@nlein purpura Henoch-Scholein purpura Henoch-Schonlein Purpura Purpura, autoimmune	ACE B4GALNT1 C1GALT1 CPT1C CYP19A1 CYP2U1 CYP7B1 GBA2 ICAM1 L1CAM MBL2 MGAT5 NAAA PARP1 PLA2G6 PLD3 PNPLA6 SLC33A1	10908 113612 126129 142 1588 1636 23646 2583 27163 3383 3897 4153 4249 56913 57704 8398 9197 9420	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:11121	pulpitis Aliases: pulp stones	IL18R1 IL1R1 SIRT6 TLR4	3554 51548 7099 8809	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:6420	pulmonary valve stenosis	ARSD B3GLCT B4GALT7 CHST3 CYP24A1 ENPP1 FKTN G6PC3 GALNT1 PIGQ PMM2 SMC3	11285 145173 1591 2218 2589 414 5167 5373 9091 9126 92579 9469	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14265	pulmonary valve insufficiency Aliases: Pulmonic insufficiency Pulmonic valve regurgitation pulmonary incompetence pulmonary incompetence, non-rheumatic pulmonary insufficiency following trauma and surgery pulmonary regurg. pulmonary regurgitation	SFTPA1 SFTPA2 SFTPC	6440 653509 729238	Homo sapiens (human)	DisGeNET
DOID:12123	postinflammatory pulmonary fibrosis Aliases: Post-inflammatory pulmonary fibrosis	ACE ACO2 ANXA5 APRT ASAH1 ATP6AP2 B3GAT1 B3GAT3 CAT CD44 CEL CHAT CHI3L1 CHIT1 CHST15 CYP27B1 DCN ELOVL6 FASN FCGR3B FOLR2 FUT8 GLB1 HAS2 HPGDS ICAM1 IL1RL1 INPP5D KL LCLAT1 LDHA LGALS1 LGALS3 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 VCAM1	10159 1056 10825 10998 1103 1116 1118 1594 1634 1636 2194 2215 23213 2350 23556 23583 2530 253558 26229 27087 2720 27306 3037 308 3383 353 3635 3939 3956 3958 427 4350 4360 4758 4907 4968 50 51363 51548 5290 5291 5293 5294 5321 5329 5563 55959 56848 5728 5743 6382 6383 6385 6401 6440 6441 653509 6646 7108 729238 7412 79071 83666 847 8482 8879 9173 9365 960	Homo sapiens (human)	DisGeNET
DOID:2797	idiopathic interstitial pneumonia Aliases: Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis	ACE ACO2 ALOX5 ALPI ALPP AMY2A ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GAT1 B3GAT3 CAT CD248 CD44 CD55 CEACAM5 CEACAM7 CEL CEMIP CHAT CHI3L1 CHIT1 CHST15 CTSA CYP27B1 CYP2C9 DCN DEGS1 ELOVL6 ENO1 ENPP2 FASN FCGR3B FOLR2 FUT8 GGT1 GLB1 HAS2 HK2 HPGDS HS6ST1 HS6ST2 ICAM1 IL18R1 IL1RL1 INPP5D KL KLRK1 L1CAM LCLAT1 LDHA LGALS1 LGALS3 LTA4H MICA MPG MRC1 NEU1 NEU3 NT5E OGG1 PARP1 PARP9 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G4A PLAUR PRKAA2 PTEN PTGS1 PTGS2 RECK SDC1 SDC2 SDC4 SELE SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SHMT2 SIRT6 SLC27A5 SLC2A10 SLC2A5 SMUG1 SOAT1 SPHK1 SPHK2 SULF1 SULF2 TM7SF2 VCAM1 VCAN	100507436 10159 1048 1056 10825 1087 10998 1103 1116 1118 142 1462 1559 1594 1604 1634 1636 2023 2194 2215 22914 23213 2350 23556 23583 240 248 250 2530 253558 26229 2678 27087 2720 27306 279 3037 308 3099 3383 353 3635 3897 3939 3956 3958 4048 410 427 4350 4360 4758 4907 4968 50 51363 51548 5168 5290 5291 5293 5294 5310 5311 5321 5329 5476 5563 55959 56848 57124 57214 5728 5742 5743 6382 6383 6385 6401 6440 6441 6472 6518 653509 6646 7108 729238 7412 79071 81031 83666 8434 847 8482 8560 8809 8877 8879 90161 9173 9365 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
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)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:9498	pulmonary eosinophilia	ALPL CEL CHI3L1 IL1R1 IL1RL1 ISYNA1 PARP9 SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 3554 51477 83666 9173	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:9477	pulmonary embolism Aliases: pulmonary artery embolism pulmonary embolus	ABO ACE CAT CD55 CHGA DPEP1 EXTL3 PCYT1A PIGA PTEN QTRT1 SELE SELP SIRT2 TBXAS1 VCAM1	1113 1604 1636 1800 2137 22933 28 5130 5277 5728 6401 6403 6916 7412 81890 847	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11396	pulmonary edema	ACE ALOX5 CAT CYP11B2 SFTPA1 SGMS1 TNF	1585 1636 240 259230 653509 7124 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:12120	pulmonary alveolar proteinosis	CEACAM5 CEL CHI3L1 CYP27A1 ENO2 PARP9 SFTPA1 SFTPC SFTPD SLC27A5 SOAT1	1048 1056 10998 1116 1593 2026 6440 6441 653509 6646 83666	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0090122	aromatase excess syndrome Aliases: AEXS familial hyperestrogenism hereditary prepubertal gynecomastia increased aromatase activity	ACACA AGPAT2 CD44 CFC1 CYP11B1 CYP19A1 CYP21A2 CYP2B6 H6PD IDH1 IDH2 PIGP PIGQ PTEN PTGS2 SLC35A2	10555 1555 1584 1588 1589 31 3417 3418 51227 55997 5728 5743 7355 9091 9563 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0002116	pterygium Aliases: surfer's eye	ACE ALDH3A1 CAT CYP1A1 G6PD GPC6 ICAM2 IL1R1 OGG1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLD1 PTEN PTGS2 SEMA7A ST3GAL3 TP53	10082 1543 1636 218 2539 3384 3554 4968 5130 5290 5291 5293 5294 5337 5728 5743 6487 7157 847 8482	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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