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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 **2451 - 2475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:2860	hemoglobinopathy Aliases: hemoglobinopathies	ABO ALDOA CD55 FUT1 G6PD GPI HK1 NT5E PKLR SCD TPI1 UGT1A1	1604 226 2523 2539 28 2821 3098 4907 5313 54658 6319 7167	Homo sapiens (human)
DOID:5759	sebaceous gland neoplasm Aliases: Sebaceous neoplasm	MRC1	4360	Homo sapiens (human)
DOID:2411	granular cell tumor Aliases: neoplasm of granular cell	ATP6AP2 FASN PTEN	10159 2194 5728	Homo sapiens (human)
DOID:0111228	Sveinsson chorioretinal atrophy Aliases: HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type	CAT CYP1B1 CYP2C19 ENO2 GAD1 GPNMB GPX3 IDS IGF2R MRC1 PIK3CA PIK3CD PIK3CG RPE	10457 1545 1557 2026 2571 2878 3423 3482 4360 5290 5293 5294 6120 847	Homo sapiens (human)
DOID:5289	uterus leiomyosarcoma Aliases: leiomyosarcoma of Corpus Uteri	CBR1 CD38 FH PIK3CA PTEN SDC1 SMUG1	2271 23583 5290 5728 6382 873 952	Homo sapiens (human)
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5 TNF	26503 308 4153 4684 5091 5337 5648 6382 6402 7124 78989 929	Homo sapiens (human)
DOID:819	mediastinitis	ARSA	410	Homo sapiens (human)
DOID:0111058	platelet-type bleeding disorder 12 Aliases: BDPLT12 PGHS1 deficiency platelet COX1 deficiency platelet cyclooxygenase 1 deficiency platelet prostaglandin-endoperoxide synthase 1 deficiency	PTGS1	5742	Homo sapiens (human)
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	CYP11A1 FREM1 GAD2 NT5M PAFAH1B1 PRNP STS	1583 158326 2572 412 5048 5621 56953	Homo sapiens (human)
DOID:0110307	hypertrophic cardiomyopathy 1 Aliases: CMH1 cardiomyopathy, familial hypertrophic 1 hypertrophic cardiomyopathy 19	ACE APRT CALR3 GLA GNS HGSNAT ICAM1 NAGLU PKD1 PNPLA3 PRKAA2 SGSH	125972 138050 1636 2717 2799 3383 353 4669 5310 5563 6448 80339	Homo sapiens (human)
DOID:8691	mycosis fungoides Aliases: mycosis fungoides lymphoma	ACSBG1 CD44 FUT4 LGALS1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4D PTEN PTGS2 SELL SMUG1	23205 23583 2526 283748 3956 4507 4684 5290 5291 5293 5294 5315 5728 5743 6402 960	Homo sapiens (human)
DOID:203	exostosis Aliases: bone spur bony outgrowth orbital exostosis osteophyte swimmer's exostosis	ACAN ACLY ADH1B APRT B3GALT6 B3GAT1 CD14 CD44 DCN EXT1 EXT2 EXTL3 FMOD HPSE HSPG2 IDH1 IDH2 KL PLCG2 PTEN PTGS2 SMUG1 TNKS	10855 125 126792 1634 176 2131 2132 2137 2331 23583 27087 3339 3417 3418 353 47 5336 5728 5743 8658 929 9365 960	Homo sapiens (human)
DOID:1725	peritoneum cancer	PRG2	5553	Homo sapiens (human)
DOID:7997	thyrotoxicosis	ABO ACACA ACE ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929	Homo sapiens (human)
DOID:0050167	autoimmune polyendocrine syndrome type 1 Aliases: Autoimmune Polyglandular Syndrome I Whitaker syndrome autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy	ADH1A CD1D CLEC7A CYP1A2 CYP2B6 DLAT FCGR3B LYZ VCAM1	124 1544 1555 1737 2215 4069 64581 7412 912	Homo sapiens (human)
DOID:2801	nonspecific interstitial pneumonia Aliases: NSIP	SFTPC	6440	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:0050795	cone dystrophy Aliases: retinal cone dystrophy	CACNA2D4	93589	Homo sapiens (human)
DOID:2476	hereditary spastic paraplegia Aliases: French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM L2HGDH MAG PCYT2 PLA2G6 PNPLA6 PNPLA7 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 375775 3897 4099 51302 57704 5833 79944 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:456	ascariasis Aliases: Ascariasis - roundworm	CAT CHIT1 CYP1A1 SIGLEC1	1118 1543 6614 847	Homo sapiens (human)
DOID:14224	tracheal calcification Aliases: Calcification of trachea	EBP	10682	Homo sapiens (human)
DOID:7213	transitional meningioma Aliases: transitional (mixed) 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:13724	scurvy	AKR1A1 HPGDS RGN	10327 27306 9104	Homo sapiens (human)
DOID:0110734	neurodegeneration with brain iron accumulation Aliases: NBIA	AKR1B10 GLB1 NDUFAB1 PLA2G1B PLA2G4A PLA2G6 PLB1 PRPS1 SGSH	151056 2720 4706 5319 5321 5631 57016 6448 8398	Homo sapiens (human)
DOID:350	mastocytosis Aliases: mast cell hyperplasia	ACLY CALR CD33 CD38 CD44 CD72 CEL DHCR24 DLD ENOSF1 ENPP3 ETNK1 FCER2 FH GPX1 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2E PTGS2 SMPD1	1056 1718 1738 2208 2271 27349 2876 30814 3339 3383 3418 47 5169 5290 5291 5293 5294 55500 55556 5743 6609 811 945 952 960 9653 971	Homo sapiens (human)

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