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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 **5026 - 5050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060840	isolated microphthalmia 1 Aliases: MCOP1	ALDH1A3	220	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110959	Gaucher's disease type III Aliases: GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type	ACE CHIT1 GBA1	1118 1636 2629	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110163	Charcot-Marie-Tooth disease axonal type 2F Aliases: CMT2F Charcot-Marie-Tooth neuronal type 2F Charcot-Marie-Tooth neuropathy type 2F autosomal dominant Charcot-Marie-Tooth disease type 2F	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080089	tubular aggregate myopathy 1	CLEC10A CYP19A1 GFPT1 MTM1 MTMR14 OVGP1 SIRT4	10462 1588 23409 2673 4534 5016 64419	Homo sapiens (human)	DisGeNET
DOID:4927	Klatskin's tumor Aliases: Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma	ARSA HK1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC2 SMUG1	23583 3098 3958 410 5290 5291 5293 5294 5315 6383	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4661	multiple chemical sensitivity Aliases: 20th century disease chemical AIDS environmental illness idiopathic environmental illness total allergy syndrome	CYP2C19	1557	Homo sapiens (human)	Alliance of Genome Resources
DOID:5295	intestinal disease	ACE ALG8 CAT CD44 CEACAM5 CEACAM6 CEACAM7 COG6 DGAT1 G6PC1 GP2 GUSB LCT LPIN2 LYZ MICA MUTYH NCAM1 OGA PARP1 PTGS1 PTGS2 REG1B SI STS	100507436 1048 10724 1087 142 1636 2538 2813 2990 3938 4069 412 4595 4680 4684 5742 5743 57511 5968 6476 79053 847 8694 960 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	ARSA ASAH1 CHIT1 CYP11A1 GALC GBA1 GLA GLB1 IDUA OGA PSAP SGPL1 SMPD1 SMPD2 SMPDL3A	10724 10924 1118 1583 2581 2629 2717 2720 3425 410 427 5660 6609 6610 8879	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:10488	imperforate anus Aliases: Congenital atresia of anus Congenital or infantile occlusion of anus anal atresia	B3GLCT COMT FKRP FKTN LARGE1 PIGN PIGO POMT1 POMT2	10585 1312 145173 2218 23556 29954 79147 84720 9215	Homo sapiens (human)	DisGeNET
DOID:0060578	Noonan syndrome 1 Aliases: NS1	ACADS ACHE AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GBE1 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 2632 2653 2720 2731 275 2821 3339 35 410 412 414 43 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:12531	von Willebrand's disease Aliases: vascular hemophilia vascular pseudohemophilia von Willebrand disease von Willebrand disorder von Willebrand's-Jurgens' disease von Willebrand-Jrgens disease	ABO ACADVL ATP6V0A2 BAAT CANX GPI HADHA HPSE OTOA PDIA3 SACM1L SELP	10855 146183 22908 23545 28 2821 2923 3030 37 570 6403 821	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111141	delayed sleep phase syndrome Aliases: DSPD	CRY1	1407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080146	childhood B-cell acute lymphoblastic leukemia	CD22 CD38 FCN2 FUT4 LIPA MBL2 PIK3CA PIK3CB PIK3CG SLC2A5	2220 2526 3988 4153 5290 5291 5294 6518 933 952	Homo sapiens (human)	DisGeNET
DOID:11612	polycystic ovary syndrome Aliases: Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary	ACACA ACAN ACE ADIPOQ ADRB3 AGPAT2 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKT2 ALDH1A3 ANXA5 APRT ARSD BAAT CAT CD44 CHST3 COMT CPT1A CPT2 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP21A2 CYP2B6 CYP2R1 CYP51A1 DCN DHCR7 DHRS11 ENPP1 FADS1 FADS2 FBXO44 FUT7 G6PC1 GGT1 GPX1 GPX3 GYS2 H6PD HACD1 HAS1 HAS2 HAS3 HMMR HPGDS HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 ICAM1 IL1R1 ISYNA1 ITLN1 LALBA LCT LGALS3 LPCAT2 LPIN1 LPL MANEA MELTF MGAT5B MIOX MPG NAMPT NANS NEIL2 PAFAH1B1 PAPSS2 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLAUR PNPLA2 PNPLA3 PPT1 PRKAA2 PTEN PTGS2 RENBP SCD SFTPC SLC2A4 SLC33A1 SLC35G1 SLC37A4 SRD5A1 SRD5A2 STS SULT1E1 VCAM1 VCAN	10135 10555 120227 1312 1374 1376 1462 146664 1543 1545 155 1555 1583 1584 1586 1588 1589 159371 1595 1634 1636 1645 1646 1717 176 208 220 231 23175 2529 252969 2538 2542 2678 27306 2876 2878 2998 3036 3037 3038 308 31 3161 3283 3284 3290 3291 3292 3294 3295 3383 353 3554 3906 3938 3958 3992 4023 412 414 4241 4350 5048 51477 51478 5167 5290 5291 5293 5294 5310 5329 54187 54947 5538 55586 55600 5563 570 57104 5728 5743 5973 6319 6440 6517 6715 6716 6783 7412 79154 7941 79694 80339 847 8630 8644 9060 9197 9200 93611 9370 9415 9469 9563 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2366	West Nile fever	ABO CD14 CD48 GAD2 GBA1 GBA3 MBL2 NAMPT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLB1 PLCE1 PSMD10 TMED5	10135 151056 2572 2629 28 4153 50999 51196 5290 5291 5293 5294 5319 5716 57733 929 962	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110208	Charcot-Marie-Tooth disease X-linked recessive 2 Aliases: CMTX2 Charcot-Marie-Tooth neuropathy X-linked recessive 2 X-linked Charcot-Marie-Tooth disease type 2	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3410	carotid artery thrombosis	ACE ARSA ART4 CD14 CD74 CHIT1 CYP2C19 FCGR3B KL LIPC LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 SACM1L SMUG1 ST8SIA4 TM7SF2 VCAM1	1118 1557 1636 2215 22908 23583 3990 4023 410 420 5130 5290 5291 5293 5294 7108 7412 7903 7941 929 9365 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:10459	common cold Aliases: Acute viral rhinopharyngitis Nasopharyngitis - acute Nasopharyngitis, acute acute coryza acute nasopharyngitis acute rhinitis rhino-sinusitis	ALOX5 CD14 CYP2C19 G6PD GPI HACD1 ICAM1 LYZ MBL2 PLAAT3 SDHD SELP SIGLEC1 SLC17A5	11145 1557 240 2539 26503 2821 3383 4069 4153 6392 6403 6614 9200 929	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3196	cellular schwannoma Aliases: cellular Neurinoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4254	osteosclerosis	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050585	congenital generalized lipodystrophy	AGPAT2 AGPS PCYT1A PNPLA2	10555 5130 57104 8540	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:13001	carotid stenosis Aliases: Carotid artery stenosis Stenosis, carotid artery	ACE ARSA ART4 CD14 CD74 CDS1 CHIT1 CYP2C19 FCGR3B KL LIPC LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PTGIS PTGS2 SACM1L SMUG1 ST8SIA4 TLR2 TLR4 TM7SF2 VCAM1	1040 1118 1557 1636 2215 22908 23583 3990 4023 410 420 5130 5290 5291 5293 5294 5740 5743 7097 7099 7108 7412 7903 7941 929 9365 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2050	acute maxillary sinusitis Aliases: acute antritis	NT5E	4907	Homo sapiens (human)	DisGeNET
DOID:6740	cervix small cell carcinoma Aliases: small cell carcinoma of the Cervix Uteri	CHGA	1113	Homo sapiens (human)	DisGeNET

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