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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 **5751 - 5775** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:11824	multicentric reticulohistiocytosis Aliases: Lipoid dermatoarthritis	SMUG1	23583	Homo sapiens (human)
DOID:1076	chronic pyelonephritis	CD55 NAGLU UMOD	1604 4669 7369	Homo sapiens (human)
DOID:10095	intracranial abscess	ICAM1 SMUG1	23583 3383	Homo sapiens (human)
DOID:0050650	familial atrial fibrillation Aliases: ATFB	KCNQ1	3784	Homo sapiens (human)
DOID:47	prostate disease	CAT CYP17A1 CYP19A1 FMOD GLCE GPX1 PTEN SRD5A2 TM7SF2	1586 1588 2331 26035 2876 5728 6716 7108 847	Homo sapiens (human)
DOID:13094	branch retinal artery occlusion Aliases: Arterial retinal branch occlusion retinal arterial branch occlusion	CYP1B1	1545	Homo sapiens (human)
DOID:0090065	familial cold autoinflammatory syndrome 4	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:11615	penile cancer Aliases: Ca penis Penile Ca malignant Penile tumor malignant neoplasm of body of penis penile neoplasm	PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 5290 5291 5293 5294	Homo sapiens (human)
DOID:5520	head and neck squamous cell carcinoma Aliases: carcinoma of the head and neck squamous cell carcinoma of the head and neck squamous cell carcinomas of head and neck	ACACA ACACB ACHE ACOT7 ADH1B ADH1C ADH7 AKR1A1 AKR1C1 ALDH2 ALDH3A1 ALG3 ALOX15B ALOX5 ANXA5 APRT ASAH1 BST2 C1GALT1 CALR CANX CAT CBR1 CD33 CD44 CDH13 CEACAM6 CERS1 CERS6 CMAS COMT CSPG4 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP2R1 DHCR24 DLAT ENO1 EXT1 EXTL3 FCGR3B FOLR2 FUT1 FUT4 GALC GALNS GGT1 GLB1 GPAA1 GPD1L GPI GPNMB GPX1 GPX3 GUSB HK2 HPGDS HPSE2 HPSE HSD17B12 HYAL1 IDH2 IDUA IGF2R IL18R1 IL1RAP ISYNA1 JMJD7-PLA2G4B KL LDHA LGALS1 LGALS3 LGALS9 LY6K ME1 MICA MMP17 MRC1 MUTYH NAMPT NANS NCAM1 NEIL1 NEU1 NSDHL NT5E NTNG1 OGG1 PARP1 PDHA1 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4B PLAUR PLCE1 PNP PRKAA2 PRNP PSMD10 PTEN PTGES PTGIS PTGS1 PTGS2 PYGM REG3G SCD SDC1 SELL SELP SHMT1 SHMT2 SIGLEC1 SIRT4 SIRT6 SLC17A5 SLC2A3 SLC2A4 SMPD1 SMUG1 SOAT1 SPTLC3 SULF1 SULT1E1 TALDO1 THEM4 TKTL1 TPI1 TYMP UGCG UGT1A1 UGT1A6 UGT1A7 UGT2B17 ULBP1	100137049 100507436 1012 10135 10195 10327 10457 10715 10855 11332 117145 120227 125 126 130120 131 1312 142 1464 1543 1544 1545 1555 1557 1559 1571 1573 1645 1718 1737 1890 2023 2131 2137 217 218 2215 22854 23171 23213 23409 2350 23583 240 247 2523 2526 253782 2581 2588 26503 2678 2720 27306 2821 2876 2878 2990 308 3099 31 32 3373 3418 3425 3482 353 3556 3939 3956 3958 3965 4199 427 43 4326 4360 4595 4680 4684 4758 4860 4907 4968 50814 51144 51196 51477 51548 5160 5209 5290 5291 5293 5294 5315 5329 54187 54577 54578 54658 54742 55304 5563 55907 5621 56913 5716 5728 5740 5742 5743 5837 60495 6319 6382 6402 6403 6470 6472 6515 6517 6609 6614 6646 6783 684 6888 7167 7357 7367 79661 80329 811 821 8277 847 8681 873 8733 8809 9365 945 9536 960	Homo sapiens (human)
DOID:0080476	peroxisome biogenesis disorder 1A Aliases: peroxisome biogenesis disorder 1A (Zellweger)	ACOX2 AGPS CAT GNPAT GPD1 HSD17B4 HSD17B7 PAFAH1B1	2819 3295 5048 51478 8309 8443 847 8540	Homo sapiens (human)
DOID:0070314	obstructive nephropathy Aliases: CON congenital obstructive nephropathy	PIK3CA PIK3CB PIK3CD PIK3CG VNN1	5290 5291 5293 5294 8876	Homo sapiens (human)
DOID:998	eosinophilia-myalgia syndrome Aliases: Eosinophilia myalgia syndrome	CAT	847	Homo sapiens (human)
DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2 Aliases: AI2A2 amelogenesis imperfecta hypomaturation type IIA2 amelogenesis imperfecta pigmented hypomaturation type 2 amelogenesis imperfecta type IIA2	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:11843	coronary artery anomaly Aliases: Congenital anomaly of coronary artery Coronary artery abnormality Coronary artery anomaly, congenital	PCYT1A POFUT1	23509 5130	Homo sapiens (human)
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:14069	cerebral malaria Aliases: Malarial encephalitis	ACE ALOX5 CAT CHI3L1 ENOSF1 FH ICAM1 IL1R1 ISYNA1 LGALS2 MBL2 MPPE1 PNP PRKAA2 PTGS2 SELE	1116 1636 2271 240 3383 3554 3957 4153 4860 51477 55556 5563 5743 6401 65258 847	Homo sapiens (human)
DOID:0060254	Robinow syndrome Aliases: Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal face 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:13186	megaesophagus	AGA CALR ECI1 FUT3 GMPPA	1632 175 2525 29926 811	Homo sapiens (human)
DOID:3350	mesenchymal cell neoplasm Aliases: benign miscellaneous mesenchymal tumor mesenchymal tumor	PIK3CA PIK3CB PIK3CD PIK3CG SDC1 SORD	5290 5291 5293 5294 6382 6652	Homo sapiens (human)
DOID:14213	hypophosphatasia Aliases: deficiency of alkaline phosphatase	ALDH7A1 ALPL ALPP ATRNL1 PIGT	249 250 26033 501 51604	Homo sapiens (human)
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	ABO ACACA ACADVL ACE ALDH7A1 ATP6AP2 BDH1 CAT CHI3L1 CHKB CPT1A CPT2 CS CYP11B2 CYP19A1 CYP1A1 CYP1A2 CYP2C19 CYP2E1 DAG1 DBT DOLK ECI1 ENO1 FADS2 FASN FKRP FKTN FUT3 GBE1 GLB1 GPX1 GPX3 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 HSD17B2 ICAM1 IDH1 IL18R1 IL1RL1 KL LDHA LEPR LGALS3 LPL LY75 MBL2 MDH1 MGAM MGAT1 MICA MMUT MPI MRC1 MTM1 NAMPT NCAM1 NDUFAB1 PCCA PCCB PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PLB1 PNPLA2 POMT2 PPARGC1A PRG2 PRKAA2 PTEN PTGS2 RBP4 RENBP SCD SDC1 SDC4 SDHA SDHB SDHD SLC2A10 SLC2A4 SLC35B2 SLC5A1 SMUG1 SRGN ST3GAL4 SULF2 SULT1E1 TM7SF2 TNF TP53 UGT8 VTCN1	100507436 10135 10159 10891 1116 1120 1374 1376 1431 148738 151056 1543 1544 1557 1571 1585 1588 1605 1629 1632 1636 2023 2194 2218 22845 23583 2525 2632 2720 28 2876 2878 29954 3030 3032 3033 31 3155 3251 3294 3383 3417 347734 37 3939 3953 3958 4023 4065 4153 4190 4245 4351 4360 4534 4594 4684 4706 501 5095 5096 5130 5236 5290 5291 5293 5294 5552 5553 5563 55959 57104 5728 5743 5950 5973 622 6319 6382 6385 6389 6390 6392 6484 6517 6523 6783 7108 7124 7157 7368 79147 7941 79679 81031 847 8809 8972 9173 9200 9365 9415	Homo sapiens (human)
DOID:271	hemangioma of liver Aliases: Angioma of Liver hepatic angioma	TALDO1	6888	Homo sapiens (human)
DOID:11199	hypoparathyroidism	ADH1A AGA APRT ASAH1 COMT CYP27B1 CYP2R1 DGCR2 HADHA HADHB ST8SIA4 STS	120227 124 1312 1594 175 3030 3032 353 412 427 7903 9993	Homo sapiens (human)
DOID:2556	relapsing polychondritis Aliases: Chondromalacia, systemic	SMUG1	23583	Homo sapiens (human)
DOID:3210	Pelizaeus-Merzbacher disease Aliases: HLD1 Leukodystrophy, sudanophilic PMD Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher brain sclerosis diffuse familial brain sclerosis hypomyelinating leukodystrophy 1 sudanophilic leukodystrophy, Paelizeus-Merzbacher type	MAG	4099	Homo sapiens (human)

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