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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1276 - 1300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:6438	malignant choroid melanoma Aliases: malignant melanoma of choroid melanoma of the Choroid	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	PIK3CA PIK3CD PIK3CG PTEN	5290 5293 5294 5728	Homo sapiens (human)
DOID:0110728	neuronal ceroid lipofuscinosis 5 Aliases: CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	ACE ACHE AGK AGRN AKR1C2 ALDH1A3 ALOX12B ALOX5 AMACR ANXA4 ANXA5 APRT B4GALNT3 BRAF CAT CD38 CD44 CD74 CEMIP CERS1 CERS2 CHI3L1 CPT1C CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2R1 DCN DHCR24 EBP ELOVL2 ENPP2 FASN FCER2 FCGR3B FH FUCA1 FUT4 G6PD GAPDH GAS1 GGT1 GLA GPC3 GPI GPNMB GPX3 GUSB HK2 HPGDS HPRT1 HPSE ICAM1 IDH1 IL1R1 INPP4B INPPL1 KLB L1CAM LDHA LDHB LGALS1 LGALS3 LMAN2L MCAT MINPP1 MMUT MRC1 NCAM1 NT5E OGG1 PARG PARP1 PC PCYT1A PDHB PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G6 PLD2 PRKAA2 PTEN PTGDS PTGES3 PTGES PTGIS PTGS2 RECK RPIA SCD SDC4 SDHB SELE SELL SHMT1 SIRT6 SLC2A3 SMUG1 SPHK1 SPHK2 TKTL1 TM7SF2 TP53 TPI1 TYMP UGCG	10457 10682 10715 10728 10855 1116 120227 126129 142 152831 1543 1588 1591 1594 1634 1636 1646 1718 1890 2194 220 2208 2215 2271 22934 23583 23600 240 242 2517 2526 2539 2597 2619 2678 2717 2719 27306 27349 2821 283358 2878 2990 29956 307 308 3099 3251 3383 3417 353 3554 3636 375790 3897 3939 3945 3956 3958 43 4360 4594 4684 4907 4968 5091 5130 51548 5162 5168 5230 5236 5290 5291 5293 5294 5315 5319 5320 5338 54898 5563 55750 56848 57214 5728 5730 5740 5743 6319 6385 6390 6401 6402 6470 6515 673 7108 7157 7167 7357 81562 8277 8398 8434 847 8505 8821 8877 952 9536 9562 960 972	Homo sapiens (human)
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	DCN ENPP1 LSS	1634 4047 5167	Homo sapiens (human)
DOID:0090088	hypogonadotropic hypogonadism 24 without anosmia Aliases: isolated follicle-stimulating hormone deficiency	CYP17A1 CYP19A1	1586 1588	Homo sapiens (human)
DOID:2320	obstructive lung disease Aliases: respiratory airway obstruction	ACOT7 ALPI ALPP CAT GLA LTC4S MBL2 SFTPA1 SFTPA2 SFTPC SFTPD SLC2A10	11332 248 250 2717 4056 4153 6440 6441 653509 729238 81031 847	Homo sapiens (human)
DOID:9537	Lassa fever	DAG1 SLC17A5	1605 26503	Homo sapiens (human)
DOID:0111051	platelet-type bleeding disorder 18 Aliases: BDPLT18 bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 SELP VCAM1	10855 1738 27163 3956 3964 4669 5319 5320 60495 6403 64083 7412 8398	Homo sapiens (human)
DOID:0060648	anterior segment dysgenesis Aliases: anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies	CYP1B1	1545	Homo sapiens (human)
DOID:7457	enterobiasis Aliases: Oxyuris vermicularis infection Threadworm infection	ABO CD38 CD44 COLEC11 FCER2 FCN2 HPGDS LGALS3 LYPD5 MBL2 MICA PC	100507436 2208 2220 27306 28 284348 3958 4153 5091 78989 952 960	Homo sapiens (human)
DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K Aliases: ARCMT2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K	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)
DOID:2187	amelogenesis imperfecta	AKR1C1 AKR1C2 ENPP1 MMP25 TMEM165	1645 1646 5167 55858 64386	Homo sapiens (human)
DOID:0110270	cataract 17 multiple types Aliases: CTRCT17	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0111248	cerebrocostomandibular syndrome Aliases: CCM syndrome CCMS cerebro-costo-mandibular syndrome rib gap defects with micrognathia	COG1	9382	Homo sapiens (human)
DOID:11695	portal vein thrombosis	CHI3L1 NAAA PC PIGM SELP SLC17A5 SMUG1	1116 23583 26503 27163 5091 6403 93183	Homo sapiens (human)
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	ABO ACACA ACE ACSS2 ADH1B ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1C3 AKT1 ALDH2 ALOX15B ANXA7 ARSA B3GAT1 BDH2 C1GALT1 CALR CD38 CDH13 CEACAM5 CEACAM7 CHGA CHST15 CNTN1 COG8 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2C19 CYP2C9 CYP2E1 CYP3A5 DAG1 DCN DEGS1 DGKH DHCR24 ENO1 FASN G6PD GAPDH GML GOLPH3 GPX3 HPGDS HPRT1 HPSE HSPG2 ICAM1 ICAM2 IL18R1 LGALS3 LGALS9 LY6K MAN2C1 MRC1 MTAP NANP NANS NEIL1 OGG1 PARP1 PARP2 PCYT1A PDHA1 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G2A PLCE1 PLOD3 PNP PRKAA2 PSMD10 PTEN PTGES3 PTGES PTGS1 PTGS2 RECK RPN2 SDHA SDHB SDHC SHMT2 SIGLEC1 SIRT6 SLC35A2 SMUG1 SOAT1 ST6GAL1 ST6GAL2 ST8SIA4 TM7SF2 TUSC3 UGT1A1 UGT1A8 UGT2B4 UMOD UMPS UNG VTCN1	10038 1012 10327 1048 10728 10855 1087 1113 125 126 127 1272 131 140838 142 1543 1545 1557 1559 1571 1577 1588 1591 1605 160851 1634 1636 1718 2023 207 217 2194 23583 23659 247 2539 2597 27087 27306 2765 28 2878 31 310 3251 3339 3383 3384 3958 3965 410 4123 4360 4507 4860 4968 51196 5130 51363 51548 5160 5226 5230 5290 5291 5293 5294 5315 5320 54187 54576 54658 54742 5563 55902 56898 56913 57016 5716 5728 5742 5743 6185 6389 6390 6391 64083 6472 6480 6614 6646 7108 7355 7363 7369 7372 7374 7903 79661 79679 7991 811 8434 84342 84620 8560 8644 8809 8985 952 9536	Homo sapiens (human)
DOID:4607	biliary tract cancer Aliases: malignant tumour of biliary tract	CD44 CEACAM5 CEACAM7 CYP17A1 CYP1A1 CYP2C19 IDH1 IDH2 MTAP NEU1 PIK3CA PIK3CB PIK3CD PIK3CG PPARD PTEN PTGS2 SMUG1 SPHK1 UGT1A1	1048 1087 1543 1557 1586 23583 3417 3418 4507 4758 5290 5291 5293 5294 54658 5467 5728 5743 8877 960	Homo sapiens (human)
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	MDH2	4191	Homo sapiens (human)
DOID:1405	primary angle-closure glaucoma Aliases: primary Angle Closure Glaucoma	AKR1C4 CAT CHAT CYP1B1 CYP2B6 DCN DPM2 NT5E OGG1	1103 1109 1545 1555 1634 4907 4968 847 8818	Homo sapiens (human)
DOID:6712	anterior spinal artery syndrome Aliases: Anterior spinal artery occlusion syndrome	ARSA	410	Homo sapiens (human)
DOID:4905	pancreatic carcinoma Aliases: Exocrine pancreas carcinoma carcinoma of pancreas	A4GNT ABO ACADS ACE ACO1 ADH1A ADH1B ADH1C ADH4 ADH6 AGPAT1 AKR1A1 AKR1B10 AKR1B1 ALDH1A3 ALDH1B1 ALDH2 ALDOA ALOX12B ALOX15 ALOX5 ALPI ALPP ANXA5 APRT ART1 ASAH1 B3GALT5 B3GNT6 BCKDHB BPHL C1GALT1C1 CALR CAT CBR1 CD109 CD14 CD248 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHKA CHPT1 CHST15 CHSY3 CLEC14A CLEC7A COMT CS CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2C19 CYP2R1 CYP3A4 CYP51A1 DAG1 DCN DCTD DGKA DHCR24 DHDDS DLD DPEP1 EFNA2 ENO1 ENPP1 EPHX2 FADS1 FASN FBP1 FCGR3B FCN2 FDPS FH FOLR1 FOLR2 FUT3 FUT4 GAD1 GAD2 GALNT14 GALNT3 GALNT5 GAPDH GCK GCNT1 GCNT3 GFPT1 GFRA1 GFRA2 GGT1 GLO1 GLUL GNE GP2 GPC1 GPC3 GPC5 GPI GPNMB GPX1 GPX2 GUSB HK2 HMMR HPGDS HPSE HS3ST3B1 HSPG2 HYAL1 ICAM1 ICAM2 IDH1 IGF2R IL18R1 INPP4A INPP4B KL KLRK1 L1CAM LDHA LDHB LFNG LGALS1 LGALS3 LGALS4 LGALS9 LTA4H LYPD5 MACROD1 MCAT MDH1 ME2 ME3 MICA MMUT MRC1 MSLN MTAP MUTYH NAMPT NEU2 NT5E OGDHL OGG1 OGT OLR1 PAFAH1B2 PARG PARP10 PARP14 PARP1 PARP4 PCYT1A PDHX PFKFB4 PFKM PFKP PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2B PIP5K1A PIP5K1B PKD1 PKLR PKM PLA2G4A PLAUR PNLIP PNP PNPLA2 PRKAA2 PRNP PSMD10 PTEN PTGES PTGS1 PTGS2 REG3G RGN SDC1 SDC3 SELE SELP SEMA7A SFTPD SGMS1 SIRT2 SIRT4 SIRT6 SLC35F6 SLC5A1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 ST6GAL1 SULF1 SULF2 TDG TM7SF2 TNFRSF10C TUSC3 TYMP UGP2 UGT1A1 UGT1A3 UGT1A7 UGT8 ULBP2 UMPS VCAN VTCN1	10020 100507436 1012 10135 10232 10317 10327 10457 1048 10554 1056 10855 1087 10873 1113 1116 1119 11227 120227 124 125 126 127 130 130120 1312 135228 142 143 1431 1462 1543 1544 1545 1555 1557 1576 1586 1591 1595 1605 1606 161198 1634 1635 1636 1718 1738 1800 1890 192134 1943 2023 2053 217 219 2194 220 2203 2215 2220 2224 226 2262 2271 22914 22933 231 23213 23409 2348 2350 23583 240 242 246 248 250 2525 2526 2571 2572 2591 259230 2597 2645 2650 2673 2674 2675 2678 2719 27306 27349 2739 2752 28 2813 2817 2821 284348 2876 2877 28992 29071 2990 308 3099 3161 3339 3373 337876 3383 3384 3417 3482 35 353 3631 3897 3939 3945 3955 3956 3958 3960 3965 3992 4048 417 4190 4200 427 4360 4507 4594 4595 4680 4759 48 4860 4907 4968 4973 5049 51146 5130 51363 51548 5167 5210 5213 5214 5230 5290 5291 5293 5294 5310 5313 5315 5321 5329 5406 54577 54625 54658 54659 54978 5563 55753 55959 5621 56848 56994 57016 57104 57124 5716 57214 5728 5742 5743 594 6382 6401 6403 6441 64581 6480 6484 6523 6646 670 6996 7108 7360 7368 7372 79623 79679 7991 79947 80328 8050 811 8394 8395 8396 847 8473 8482 84875 8505 873 8794 8809 8821 8877 9104 9245 929 9365 9536 960 9672 972 9953	Homo sapiens (human)
DOID:12399	pathological gambling Aliases: Compulsive gambling	CHPT1 COMT DHDDS HTR2A	1312 3356 56994 79947	Homo sapiens (human)
DOID:14793	hypohidrotic ectodermal dysplasia	ACACA CD38 DHCR7 G6PD GOLPH3 LYZ PGK1 PTGS2 SLC17A5	1717 2539 26503 31 4069 5230 5743 64083 952	Homo sapiens (human)
DOID:4223	pyoderma	GALNS	2588	Homo sapiens (human)

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