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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 **4001 - 4025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0111120	nephronophthisis 9 Aliases: NPHP9	LGALS1	3956	Homo sapiens (human)
DOID:5574	VIPoma Aliases: VIP- Secreting tumor Vasoactive intestinal peptide-secreting tumor Vipoma, malignant malignant vasoactive intestinal peptide-secreting tumor	SMUG1	23583	Homo sapiens (human)
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	STT3B	201595	Homo sapiens (human)
DOID:0060415	chromosome 2p16.1-p15 deletion syndrome Aliases: 2p15p16.1 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:2848	obsolete melancholia	ABO ACACA ACE ACHE ACOT7 ACOX1 ACSL4 ACSM1 ACSS2 ADH1B ADH1C AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH3A1 ALDH7A1 ALG8 ALOX5 ALPL AMACR AMT AMY1A AMY1B AMY1C ANXA4 APRT ARSA ARSD ARSG ARSI ATP6AP2 B3GALNT2 B3GAT1 B3GLCT BST1 CACNA2D1 CALR CAT CD14 CD38 CDH13 CHAT CHI3L1 CHPF CHPT1 CHST9 CLEC4E CNTN3 CNTN5 COL9A2 COMT CPT1A CRLS1 CS CSPG4 CYP17A1 CYP19A1 CYP1A2 CYP21A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP46A1 CYP7B1 DAG1 DEGS1 DGKB DGKG DGKH DHDDS DLD DPY19L3 EDEM1 ELOVL5 ENO2 EPHX2 EPM2A FADS1 FADS2 FDPS FIG4 FUT3 GAD1 GAD2 GALC GBA1 GLA GLB1 GLO1 GLT8D1 GLUL GOLPH3 GPI GPX1 GPX6 HACD3 HPGDS HPSE HS6ST1 HSD11B1 HSD3B2 ICAM1 IDS IDUA IL18R1 IL1R1 IMPA2 INPP5K INPPL1 KL LARGE1 LDHA LGALS1 LGALS3 LIPA LMAN2L LPGAT1 LTA4H M6PR MAG MAN1B1 MBOAT7 MCAT MDGA1 MDH2 ME1 MGAM MGAT4B MPG MUTYH NANS NCAM1 NCAN NDST1 NDST3 NEIL1 NT5E NTM OCRL OGG1 OPCML PAFAH1B1 PARP14 PARP15 PARP1 PDIA3 PFKFB3 PGAP1 PGD PGP PIGC PIK3CA PIK3CB PIK3CD PIK3CG PKLR PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCB1 PLCB4 PLCG1 PLPP5 PNPLA2 PNPLA6 PPP1R3B PPP1R3C PPT1 PRKAA2 PRNP PSAP PTEN PTGDS PTGS1 PTGS2 RGN SCD SDHD SELE SELP SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC35G1 SMPD1 SMUG1 SOAT1 SRD5A1 ST3GAL3 ST3GAL4 ST6GALNAC2 ST8SIA4 STT3A SUCLA2 SULT1E1 TECR TGDS TNKS2 TNKS TUSC3 UGCG UPP2 VCAM1 VTCN1 XYLT2	1012 10159 10327 10610 10855 10858 10908 1103 1109 1116 11253 11282 11332 116285 125 126 1298 1312 1374 142 1431 145173 1463 1464 147991 148789 151056 151531 1544 1555 1557 1559 1571 1576 1586 1588 1589 1593 159371 1605 1607 1608 160851 1636 1646 165631 166929 1738 2026 2053 217 218 2182 2224 22901 22933 23236 23483 23583 23600 23659 240 249 2525 2571 2572 257202 2581 26253 2629 26503 266727 27036 27087 2717 2720 27306 27349 2739 275 2752 276 277 278 28 2821 283871 2876 2923 307 31 3284 3290 3340 3383 340075 3423 3425 353 3554 3613 3636 3703 3939 3956 3958 3988 3992 4048 4074 4099 410 414 4191 4199 43 4350 4595 4684 4907 4952 4968 4978 501 5048 5067 50863 51 51495 51548 51763 5209 5226 5279 5290 5291 5293 5294 5313 5319 5320 5321 5332 5335 53942 54187 54625 54675 5507 5538 5563 55830 55902 5621 5660 56994 57104 5728 5730 5742 5743 60481 6319 6392 6401 6403 64083 64132 6448 6476 6484 6487 6517 6609 6646 6715 6783 683 7357 7412 781 7903 79053 79143 7941 7957 79586 79660 79661 79679 7991 79947 80055 80351 811 81562 83539 8398 84513 847 8560 8658 8803 8809 8972 9104 9197 9215 929 9348 9365 9394 9415 9420 952 9524 9695 9896 9926	Homo sapiens (human)
DOID:2101	vulva squamous cell carcinoma Aliases: Vulvar Epidermoid carcinoma vulvar squamous cell carcinoma	CD44 PIK3CA	5290 960	Homo sapiens (human)
DOID:0111057	platelet-type bleeding disorder 11 Aliases: BDPLT11 GP VI deficiency glycoprotein VI deficiency	ABO ATP6V0A2 CANX PDIA3	23545 28 2923 821	Homo sapiens (human)
DOID:0014667	disease of metabolism Aliases: metabolic disease	ACACA ACADM ACAT1 ACE ACHE ACLY ACOX1 ACSF3 ADH1B AGL AGXT AKR1C3 AKR1D1 AMT APRT ARSA BAAT CAT CD14 CD248 CD38 CD74 CDH13 CEACAM5 CERS6 CFC1 COL9A2 CPT1A CPT2 CTNS CYP11B1 CYP11B2 CYP1B1 CYP21A2 CYP2B6 CYP2C19 CYP2C9 CYP7A1 CYP7B1 CYP8B1 DGAT1 DLD ECHS1 ELOVL6 ENO3 ENPP2 FASN G6PC1 G6PD GAA GAD2 GALC GALK1 GALNS GALNT3 GALNT8 GALT GBE1 GCDH GCK GLA GLDC GLUL GNPTAB GPIHBP1 GPX1 GPX3 GYG1 GYS2 HADH HADHA HSD11B1 HSD11B2 IDH1 IDH2 IDUA INPP5K INPPL1 INS KHK KL KLB L2HGDH LCAT LDHA LDHAL6A LDHAL6B LDHB LDHC LGALS3 LPIN2 LPL MACROD1 MBD4 MCEE MGAT1 MGAT2 MGAT4A MMUT MOGAT2 MRC1 NAMPT OGG1 OLR1 PARP1 PARP2 PCCA PCCB PCK2 PDHA1 PDHA2 PDHX PFKL PFKM PFKP PGAM2 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKLR PKM PLA2G4A PMM2 PNP PNPLA2 PNPLA3 PRKAA2 PRPS1 PTEN PTGES PTGS2 PYGM RPIA SARM1 SCD SFTPD SI SIGLEC12 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A4 SLC2A5 SLC37A4 SLC5A1 SMPD1 SMUG1 SORD ST3GAL4 STS SULF1 SULT1E1 TALDO1 TM7SF2 TPI1 UMPS VCAM1 VNN1 VNN2	10038 1012 10135 1048 11320 125 1298 1374 1376 142 1497 152831 1545 1555 1557 1559 1581 1582 1584 1585 1589 160287 1636 1738 178 1836 189 1892 197322 2027 2194 22934 23098 23213 23409 23583 253782 2538 2539 2542 2548 2572 2581 2584 2588 2591 2592 26290 2632 2639 2645 26503 2717 2731 275 2752 283871 2876 2878 28992 2992 2998 3030 3033 31 3290 3291 338328 34 3417 3418 3425 353 3630 3636 3795 38 3931 3939 3945 3948 3958 4023 410 412 4245 4247 43 4360 4594 47 4860 4968 4973 5095 5096 51 5106 51548 5160 5161 5168 51763 5211 5213 5214 5224 5236 5290 5291 5293 5294 5310 5313 5315 5321 5373 5563 55997 5631 570 57104 57124 5728 5743 5837 6319 6441 6476 6484 6514 6517 6518 6523 6609 6652 6718 6783 6888 7108 7167 7372 7412 79071 79158 79944 80168 80339 8050 84693 847 8644 8694 8875 8876 8930 89858 92483 929 9365 9420 952 9536 9663 972	Homo sapiens (human)
DOID:7079	adult cystic teratoma	ALPP DHCR24 FMOD GFRA1 PSMD10 PTEN	1718 2331 250 2674 5716 5728	Homo sapiens (human)
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	ACSS2 AMY1A AMY1B AMY1C APRT ENPP1 PLA2G15 SUCLG1	23659 276 277 278 353 5167 55902 8802	Homo sapiens (human)
DOID:3720	extramedullary plasmacytoma Aliases: extraosseous plasmacytoma plasmacytoma, extramedullary	CAT CD38 ICAM1 LPL NCAM1 PCYT1A PIGA PTEN SDC1 SMUG1 SOAT1	23583 3383 4023 4684 5130 5277 5728 6382 6646 847 952	Homo sapiens (human)
DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2 Aliases: Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis FDD Familial Danish Dementia HOOE Heredopathia Ophthalmootoencephalica	GPC1	2817	Homo sapiens (human)
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	MGAT2	4247	Homo sapiens (human)
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	COQ2	27235	Homo sapiens (human)
DOID:0081267	graft-versus-host disease Aliases: GvHD graft versus host disease	ABO ADIPOQ SELL TP53	28 6402 7157 9370	Homo sapiens (human)
DOID:117	heart cancer Aliases: Cardiac tumor Tumour of heart malignant Cardiac tumor malignant neoplasm of heart	ABO ACACA ACE ACO1 APRT CAT CHGA CNTN4 COMT CS CYP1A2 DGCR2 DHRS11 DLST FH G6PD GUSB HPSE HSD17B7 IDH1 IDH2 L1CAM LGALS3 MDH2 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PTEN PTGS2 SDHA SDHB SDHC SDHD SMPD1 SMUG1 SORD UGT1A1	10855 1113 1312 142 1431 152330 1544 1636 1743 2271 23583 2539 28 2990 31 3417 3418 353 3897 3958 4191 4360 48 51478 5290 5291 5293 5294 5311 54658 5728 5743 6389 6390 6391 6392 6609 6652 79154 847 9993	Homo sapiens (human)
DOID:5534	renal pelvis squamous cell carcinoma Aliases: Epidermoid carcinoma of the kidney Pelvis	SMUG1	23583	Homo sapiens (human)
DOID:10017	multiple endocrine neoplasia type 1 Aliases: MEN type I Wermer syndrome Wermer's syndrome	ABO APRT CD109 CYP24A1 FUT4 GAPDH GFRA4 PIK3CA PIK3CB PIK3CD PIK3CG PLCB3 PTEN PYGM RENBP SDHA SDHB SDHC SDHD SMUG1 SORD SULT1E1	135228 1591 23583 2526 2597 28 353 5290 5291 5293 5294 5331 5728 5837 5973 6389 6390 6391 6392 64096 6652 6783	Homo sapiens (human)
DOID:0070141	autosomal recessive cutis laxa type II classic type Aliases: ARCL2, Debre type ARCL2, classic type	ATP6AP1 ATP6V0A2 ATP6V1A B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0070267	congenital disorder of glycosylation type IIo Aliases: CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIdo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o	CCDC115	84317	Homo sapiens (human)
DOID:574	peripheral nervous system disease	ACACA ACE ACER3 ACOT7 AGPAT2 AGXT AKR1A1 AKR1B1 ALOX12 ALOX15 AMACR APRT ARSA B3GAT1 CANX CAT CD14 CD1D CD55 CHIT1 CHSY1 CNTN1 COMT CPT1C CYP17A1 CYP19A1 CYP27A1 CYP2C8 CYP2U1 CYP3A4 CYP3A5 CYP7B1 DAG1 DEGS1 DGAT2 ECHS1 ENO2 FIG4 FOLR1 FUCA1 GAD1 GAS1 GCK GFRA1 GFRA2 GLA GPX1 HADH HADHA HADHB HK1 HPGDS HPSE HSD3B7 ICAM1 IDH1 IDH2 INPP5K LPIN1 LTC4S LYZ MAG MBL2 MGLL MTM1 MTMR2 NAGA NAMPT NCAM1 NCAN NGLY1 NT5E NTNG1 PDHA1 PGM3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PNPLA2 PNPLA6 PRNP PRPS1 PSAP PTEN PTGIS RGN RPIA SARM1 SCP2 SDHA SGPL1 SLC2A4 SMC3 SMPD1 SPTLC1 SPTLC2 SPTLC3 ST3GAL4 SUCLA2 TKT TPI1 TYMP	10135 10327 10555 10558 10855 10908 1118 11332 11343 113612 126129 1272 1312 1463 1558 1576 1577 1586 1588 1593 1604 1605 1636 189 1890 1892 2026 22854 22856 22934 23098 231 23175 2348 23600 239 246 2517 2571 2619 2645 2674 2675 27087 2717 27306 283871 2876 3030 3032 3033 3098 31 3383 3417 3418 353 4056 4069 4099 410 4153 4534 4668 4684 4860 4907 5160 51763 5238 5290 5291 5293 5294 5373 55304 55331 55768 5621 5631 5660 57104 5728 5740 6342 6389 6484 6517 6609 7086 7167 80270 821 84649 847 8560 8803 8879 8898 9104 912 9126 929 9420 9517 9896	Homo sapiens (human)
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity Aliases: PRPP synthetase superactivity PRPS1 superactivity	PNP PRPS1	4860 5631	Homo sapiens (human)
DOID:0080797	nasal type extranodal NK/T-cell lymphoma	GPX3	2878	Homo sapiens (human)
DOID:13452	scleritis	ACE TNF	1636 7124	Homo sapiens (human)
DOID:914	peliosis hepatis Aliases: hepatic peliosis	SMUG1	23583	Homo sapiens (human)

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