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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 **3326 - 3350** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110064	amelogenesis imperfecta type 1H Aliases: AI1H amelogenesis imperfecta type IH	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:3488	cellulitis	PIK3CD PLCG2 SLC35A1 SLC35C1	10559 5293 5336 55343	Homo sapiens (human)
DOID:1790	malignant mesothelioma Aliases: Diffuse malignant Mesothelioma advanced malignant mesothelioma asbestos-related malignant mesothelioma malignant tumor of Mesothelium	ACACA AKR1C1 AKR1C2 AKR1C3 ALOX12 ALOX15 ALOX5 ANXA4 APRT BST1 CALR CAT CD14 CD44 CD74 CEACAM5 CEACAM7 CSPG4 CYP19A1 CYP1A1 DLD FCN2 FOLR1 FOLR2 FUT4 GLB1 GPC1 GPC3 GPI HPGDS HPSE ICAM1 ICAM2 IDUA ITLN1 KLRK1 L1CAM LGALS3 LGALS9 MRC1 MSLN MTAP MTMR4 NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PTEN PTGS2 SDC1 SDC2 SIGLEC7 SLC26A2 SMUG1 SPHK1 TBXAS1 TM7SF2 TNFRSF10C TYMP VCAM1 VCAN	10232 1048 10855 1087 142 1462 1464 151056 1543 1588 1645 1646 1738 1836 1890 2220 22914 2348 2350 23583 239 240 246 2526 27036 2719 2720 27306 2817 2821 307 31 3383 3384 3425 353 3897 3958 3965 4360 4507 4907 5290 5291 5293 5294 5321 55600 5728 5743 6382 6383 683 6916 7108 7412 811 847 8644 8794 8877 9110 929 960 972	Homo sapiens (human)
DOID:0060169	benign familial infantile epilepsy Aliases: BFIC BFIE benign familial infantile convulsion benign familial infantile seizures	GALE	2582	Homo sapiens (human)
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	ABO ACE ACHE ACO2 ACYP2 AKR1C3 ALDH9A1 ALOX5 AMACR ANXA5 APRT CAT CD44 CD74 CEACAM5 CEACAM7 COMT CYP11B1 CYP11B2 CYP17A1 CYP1A1 CYP1B1 CYP3A4 CYP4F3 DHCR24 FASN FH G6PD GLO1 GPX1 HPGDS ICAM1 IDH1 KL L1CAM LDHA LGALS3 ME1 MICA MRC1 NAMPT NT5E OGG1 PDHX PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2R1 PLCG2 PPARGC1A PTEN PTGS2 RGN SDHB SDHD SMUG1 SORD SPHK1 ST6GALNAC6 UGT2B7 VCAM1 VCAN	100507436 10135 1048 1087 10891 1312 1462 1543 1545 1576 1584 1585 1586 1636 1718 2194 223 2271 22925 23583 23600 240 2539 27306 2739 28 283871 2876 308 30815 3383 3417 353 3897 3939 3958 4051 4199 43 4360 4907 4968 50 5290 5291 5293 5294 5310 5315 5336 5728 5743 6390 6392 6652 7364 7412 8050 847 8644 8877 9104 9365 960 972 98	Homo sapiens (human)
DOID:890	mitochondrial encephalomyopathy	SDHB SUCLA2 SUCLG1 TYMP	1890 6390 8802 8803	Homo sapiens (human)
DOID:5847	posterior myocardial infarction	DLD	1738	Homo sapiens (human)
DOID:5485	synovial sarcoma	ACE CD38 ENO2 GLB1 GLO1 HPSE NANS PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SELE SIRT2 SLC3A1 SMUG1 VCAM1 VTCN1	10855 1636 2026 22933 23583 2720 2739 5091 5290 5291 5293 5294 54187 5728 5743 6401 6519 7412 79679 952	Homo sapiens (human)
DOID:2696	Leydig cell tumor Aliases: Leydig cell neoplasm	CYP19A1 LCT LGALS3 PTGES PTGS2 SMUG1	1588 23583 3938 3958 5743 9536	Homo sapiens (human)
DOID:10456	tonsillitis Aliases: Throat infection - tonsillitis chronic tonsillitis	FCN2 GALNS GPX1 MBL2 NT5E	2220 2588 2876 4153 4907	Homo sapiens (human)
DOID:2001	neuroma	PIK3CA	5290	Homo sapiens (human)
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	ACACA ACE ACO1 APRT CAT CHGA CNTN4 COMT CS DGCR2 DHRS11 DLST FH G6PD GUSB HPSE HSD17B7 IDH1 IDH2 L1CAM LGALS3 MDH2 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PTEN PTGS2 SDHA SDHB SDHC SDHD SMPD1 SMUG1 SORD	10855 1113 1312 142 1431 152330 1636 1743 2271 23583 2539 2990 31 3417 3418 353 3897 3958 4191 48 51478 5290 5291 5293 5294 5311 5728 5743 6389 6390 6391 6392 6609 6652 79154 847 9993	Homo sapiens (human)
DOID:0060285	parietal foramina Aliases: Caitlin marks enlarged parietal foramina hereditary cranium bifidum	CAT EXT2 QTRT1 UGT8	2132 7368 81890 847	Homo sapiens (human)
DOID:0060291	oculodentodigital dysplasia Aliases: ODD syndrome	CYP1B1	1545	Homo sapiens (human)
DOID:0060644	chondrodysplasia-pseudohermaphroditism syndrome Aliases: Nivelon-Nivelon-Mabille syndrome chondrodysplasia-disorder of sex development syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT 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 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0110797	hereditary spastic paraplegia 45 Aliases: SPG45 SPG65 autosomal recessive spastic paraplegia 45 autosomal recessive spastic paraplegia type 45 autosomal recessive spastic paraplegia type 65	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:13214	hole retinal cyst Aliases: Macular cyst or hole Macular cyst, hole, or pseudohole of retina Macular pseudohole retinal cyst	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:9534	tuberculous pneumothorax	ACACA ACE ACOT7 ALOX5 CD14 CD209 CD44 CDH13 CEL CLEC4E CYP2E1 ENO2 FCGR3B FCN2 GUSB HSD11B1 ICAM1 IL1R1 LTA4H LYZ MASP1 MBL2 MRC1 NTM PARP9 SELE SELL SFTPA1 SFTPA2 SIGLEC1 SLC27A5 SLC39A8 SMUG1 SOAT1 TM7SF2	1012 1056 10998 11332 1571 1636 2026 2215 2220 23583 240 26253 2990 30835 31 3290 3383 3554 4048 4069 4153 4360 50863 5648 6401 6402 64116 653509 6614 6646 7108 729238 83666 929 960	Homo sapiens (human)
DOID:13789	staphyloma posticum	HADHA	3030	Homo sapiens (human)
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	ABO ACE ACHE ACO2 ADRB3 AKR1B10 ANXA5 APRT ARSB ASAH1 ASAH2 CALR CAT CD14 CD1D CEACAM5 CEACAM6 CEL CHI3L1 CHIT1 CLEC6A CLEC7A CYP1A1 CYP1A2 CYP2C19 CYP3A4 DCN EBP EDEM1 EFNA5 ENPP7 FCGR3B FCN1 FUT1 FUT2 FUT3 FUT4 GBA2 GBA3 GCLC GLB1 GPNMB GUSB HEXA HPGDS HSD11B2 HSPG2 ICAM1 INPP5D ISYNA1 LCT LEP LPCAT1 MASP1 MASP2 MBL2 MGAM MOGS MPI PARP3 PARP9 PCK1 PGD PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G2A PLA2G4A PLB1 PLCB3 PLCD1 PLCZ1 PPARA PRKAA2 PRNP PRSS8 PTEN PTGES3 PTGS2 RECK RGMA SELP SFTPA1 SFTPA2 SFTPC SFTPD SI SIRT2 SLC27A5 SMPD1 SPHK2 STS SULT1E1 SUMF1 TLR4 TNF UGT1A1 VCAM1	10039 10457 1048 1056 10682 10728 10747 10998 1116 1118 151056 1543 1544 155 1557 1576 1634 1636 1946 2215 2219 22933 2523 2524 2525 2526 2720 2729 27306 28 285362 2990 3073 308 3291 3339 3383 339221 353 3635 3938 3952 411 412 4153 427 43 4351 4680 50 5105 51477 5226 5238 5290 5291 5293 5294 5310 5315 5320 5321 5331 5333 5465 54658 5563 5621 5648 5652 56624 56848 56963 57016 5728 5743 57704 57733 6403 6440 6441 64581 6476 653509 6609 6783 7099 7124 729238 7412 7841 79888 811 83666 8434 847 8972 89869 912 929 93978 9695	Homo sapiens (human)
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	AGXT ALPL ALPP ATRNL1 CD44 CYP24A1 CYP27B1 CYP2R1 ENPP1 GALNT3 GPX1 GRHPR HOGA1 HSD11B2 KL OCRL PIGT PTGS2 SLC3A1 SLC5A1 STS	112817 120227 1591 1594 189 249 250 2591 26033 2876 3291 412 4952 51604 5167 5743 6519 6523 9365 9380 960	Homo sapiens (human)
DOID:0070324	systemic Epstein-Barr virus positive T-cell lymphoma of childhood Aliases: EBV-positive T-cell lymphoproliferative disorder of childhood systemic EBV-positive T-cell lymphoma of childhood	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	ARSA COMT CPO DGCR2 GBA1 NAAA NDST1 PLA2G6 SLC25A1 SULT1E1	130749 1312 2629 27163 3340 410 6576 6783 8398 9993	Homo sapiens (human)
DOID:0060389	chromosome 10q23 deletion syndrome	MBL2 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SMUG1	23583 4153 4595 5290 5291 5293 5294 5728 5743	Homo sapiens (human)

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