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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 **3501 - 3525** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:2006	preretinal fibrosis Aliases: Macular puckering of retina Macular retinal puckering cellophane maculopathy	CAT GFRA1 GFRA2 LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG RPE SIGLEC7	2674 2675 27036 3956 5290 5291 5293 5294 6120 847	Homo sapiens (human)
DOID:13608	biliary atresia Aliases: Atresia of bile duct Congenital biliary atresia biliary atresia, congenital	ADIPOQ CBR4 CD14 CFC1 CYP7A1 ENPP2 FCGR3B GGT1 GPC1 ICAM1 MBD4 NCAM1 PCK1 PTEN SELE	1581 2215 2678 2817 3383 4684 5105 5168 55997 5728 6401 84869 8930 929 9370	Homo sapiens (human)
DOID:5339	cyclic hematopoiesis Aliases: Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis	CALR G6PC3 IL1R1 PNP PRKAA2 PTGS2 SLC35A2	3554 4860 5563 5743 7355 811 92579	Homo sapiens (human)
DOID:2855	hyperthyroxinemia	ADH5	128	Homo sapiens (human)
DOID:1607	hypoglycemic coma	ACADM GCK HADH HMGCL	2645 3033 3155 34	Homo sapiens (human)
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	POMGNT1	55624	Homo sapiens (human)
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	A4GNT ABO ACACA ACE ACHE ACLY ACO2 ACSL4 ACSS2 ACSS3 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AGA AKR1A1 AKR1B10 AKR1B1 AKR1C3 ALDH1A3 ALDH2 ALDH7A1 ALDOB ALOX12 ALOX15 ALOX5 ALPP AMY2A ANXA4 ANXA5 ANXA7 APRT ARSF ARSI ATP6V1A BAAT BST2 CACNA2D1 CACNA2D3 CALR CANX CAT CBR1 CD14 CD177 CD1D CD248 CD33 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS6 CHGA CHI3L1 CHPT1 CLEC1B CNTN1 COG2 COG8 COMT CPT1A CYP19A1 CYP1A1 CYP1A2 CYP2B6 CYP2C19 CYP2E1 CYP3A4 CYP4F3 DCN DHDDS DHRS11 DLD DPAGT1 EBP ECHS1 EFNA1 EFNA2 ENO1 ENOSF1 FADS1 FADS2 FASN FBP1 FBP2 FBXO2 FH FKTN FOLR1 FOLR2 FUT1 FUT2 FUT3 FUT4 FUT5 FUT6 GAL3ST1 GALE GALNS GALNT1 GALNT2 GALNT5 GALNT6 GAPDH GAS1 GBA3 GFPT1 GGT1 GLB1 GLDC GLO1 GLUL GOLPH3 GPAA1 GPC3 GPI GPNMB GPX1 GPX2 GPX3 GUSB HACD1 HAS1 HK1 HK2 HMMR HPGDS HPSE HS6ST2 HSD11B2 HSD17B1 HSD17B2 HSD17B7 HSD3B1 ICAM1 ICAM2 IDH1 IDH2 IDH3B IDUA IGF2R IL18R1 IL1RL1 INPP5K INPPL1 ISYNA1 ITLN1 KLRK1 L1CAM LDHA LGALS1 LGALS2 LGALS3 LGALS9 LIPF LMAN2 LYPD5 LYZ MBD4 MBL2 MBOAT7 MCAT MDGA2 MELTF MGAT5 MICA MMP25 MMUT MRC1 MSLN MTAP MTMR2 MTMR3 MUTYH NAGLU NAMPT NANS NCAM1 NEIL1 NEIL2 NEU1 NEU2 NGLY1 NT5E NTHL1 OARD1 OGG1 OGT OPCML PARP1 PCCA PDHA1 PDIA3 PFKFB3 PFKFB4 PGAM1 PGAP3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PIP5KL1 PKD1 PKM PLA2G2A PLCD1 PLCE1 PLD1 PLPP1 PNPLA2 PPAT PRKAA2 PRNP PSAP PSMD10 PTEN PTGDS PTGS1 PTGS2 RECK RPN2 SARM1 SDC1 SDHB SDHC SDHD SELE SGPP1 SGPP2 SHMT2 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A4 SLC35B4 SLC3A2 SMUG1 SOAT1 SPHK1 ST3GAL3 ST6GAL1 ST6GALNAC1 STS SUCLG1 SULF1 SULF2 SULT1E1 TDG TIGAR TKT TKTL1 TM7SF2 TMED6 TNKS TPI1 TYMP UGCG UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B15 ULBP1 UMPS UPP1 VCAM1 VCAN VTCN1	100507436 1012 10135 10232 10327 10457 1048 10682 10855 1087 10960 1113 1116 11226 11227 124 125 126 127 1272 128 130 130367 131 1312 1374 138429 142 1462 146456 1543 1544 1555 1557 1571 1576 1588 1604 161357 1634 1636 1738 175 1798 1836 1890 1892 1942 1943 2023 217 2182 2194 220 2203 221443 2218 2271 22796 229 22914 22933 23098 231 23213 23409 2348 2350 23583 239 240 246 250 2523 2524 2525 2526 2527 2528 252969 253782 2582 2588 2589 2590 2597 2619 26232 2673 2678 2719 2720 27306 2731 27349 2739 2752 279 28 2821 284348 2876 2877 2878 2923 2990 3036 307 308 3098 3099 31 310 3161 3283 3291 3292 3294 3383 3384 340075 3417 3418 3420 3425 3482 353 3636 3897 3939 3956 3957 3958 3965 3992 4051 4069 412 4153 416 4241 4249 43 4360 4507 4594 4595 4669 4680 4684 47 4758 4759 4907 4913 4968 4978 50 501 5095 51146 51196 51266 51477 51478 51548 5160 51763 5209 5210 5223 523 5230 5290 5291 5293 5294 5310 5315 5320 5333 5337 54187 54575 54576 54577 54578 54657 54658 5471 55556 55600 5563 55768 55799 55808 55902 55959 5621 5660 56994 570 57016 57103 57104 57124 57126 5716 57214 5728 5730 5742 5743 57733 6185 6382 6390 6391 6392 6401 64083 64386 6472 6480 6487 6517 6520 6646 6783 684 6996 7086 7108 7167 7357 7366 7372 7378 7412 781 79143 79154 79611 79661 79679 79947 80329 811 81537 821 8277 8434 84342 847 8473 84912 8513 8611 8644 8658 873 8733 8789 8802 8809 8877 8897 8898 8930 90161 912 9173 9200 929 93210 9415 945 9514 960 972 98	Homo sapiens (human)
DOID:0080325	tuberous sclerosis 2	NTHL1 PKD1 PTEN	4913 5310 5728	Homo sapiens (human)
DOID:3241	lipid pneumonia Aliases: Exogenous lipoid pneumonia Lipoid pneumonitis	SMUG1	23583	Homo sapiens (human)
DOID:5850	inferior myocardial infarction	SULT1E1	6783	Homo sapiens (human)
DOID:0080176	meningococcal meningitis	MBL2 TLR2 TLR4	4153 7097 7099	Homo sapiens (human)
DOID:3277	thymus cancer Aliases: Thymic tumor neoplasm of thymus thymic neoplasm	LGALS1 PTEN	3956 5728	Homo sapiens (human)
DOID:2877	larynx sarcoma Aliases: sarcoma of larynx	CD38	952	Homo sapiens (human)
DOID:0050144	Kartagener syndrome Aliases: Kartagener's syndrome	INPP5E MBL2 NTM	4153 50863 56623	Homo sapiens (human)
DOID:0060898	Parkinson's disease 20 Aliases: early-onset Parkinson disease 20 early-onset Parkinson's disease 20	SYNJ1	8867	Homo sapiens (human)
DOID:10937	impulse control disorder	APRT COMT PAFAH1B1 PLCD1 PLCG1	1312 353 5048 5333 5335	Homo sapiens (human)
DOID:0060301	type I complement component 8 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0050597	intestinal schistosomiasis Aliases: Katayama fever Schistosoma japonicum infection Schistosoma mansoni infectious disease schistosomiasis japonica	ABO CD38 CD44 COLEC11 FCER2 FCN2 GAPDH HPGDS ICAM1 IL1RL1 LGALS3 LYPD5 MBL2 MICA PC	100507436 2208 2220 2597 27306 28 284348 3383 3958 4153 5091 78989 9173 952 960	Homo sapiens (human)
DOID:4866	salivary gland adenoid cystic carcinoma Aliases: Cylindroma	ACACA ACACB CD44 CNTN6 GPC3 HSPG2 ICAM5 IDH1 ISYNA1 LGALS3 LYZ NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 PYGB RECK SDC1 SMUG1 ST3GAL4 VCAN	1462 23583 2719 27255 31 32 3339 3417 3958 4069 4684 51477 5290 5291 5293 5294 5728 5743 5834 6382 6484 7087 8434 960	Homo sapiens (human)
DOID:10611	protein-losing enteropathy Aliases: Enteropathy, exudative Exudative enteropathy	ALG8 CD55 COG8 DGAT1 MPI PIK3C2A PTEN	1604 4351 5286 5728 79053 84342 8694	Homo sapiens (human)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4GALT7	11285	Homo sapiens (human)
DOID:0110583	autosomal dominant nonsyndromic deafness 59 Aliases: DFNA59 autosomal dominant deafness 59	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:2876	laryngeal squamous cell carcinoma Aliases: Epidermoid carcinoma of the Larynx squamous cell carcinoma of larynx	ACHE ACYP2 ADH1B ALG1 ALG3 ANXA5 CAT CD44 CYP2E1 CYP3A4 CYP3A5 CYP4F3 FADS1 FADS2 GALNT7 GPX1 HK2 HPGDS HPSE INPPL1 LGALS1 LTA4H MMP25 MMUT MTAP NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLCG1 PPP1R3A PRKAA2 PTEN PTGS2 ST8SIA4 STS UGT1A1 VCAN	10195 10855 125 142 1462 1571 1576 1577 27306 2876 308 3099 3636 3956 3992 4048 4051 412 43 4507 4594 4907 51809 5290 5291 5293 5294 5311 5335 54658 5506 5563 56052 5728 5743 64386 7903 847 9415 960 98	Homo sapiens (human)
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	ABAT ABO ACACA ACADSB ACAN ACE ACSL4 ACSM3 AKR1A1 ALDH1A3 ALDH2 ALDH5A1 ALG13 AMT AMY1A AMY1B AMY1C APRT ARSA ARSD ARSI ATP6AP2 ATP6V1A B3GLCT BST1 CALR CAT CD38 CDH13 CHAT CLEC7A CMAS CNTN2 CNTN3 CNTN4 CNTN5 CNTN6 COMT CS CYP11A1 CYP11B1 CYP11B2 CYP19A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP2C19 CYP2E1 CYP2R1 DGCR2 DHCR24 DHCR7 DLD ELOVL2 ENO2 EPHX2 EXT1 FADS1 FADS2 FH FOLR1 FOLR2 G6PD GAD1 GAD2 GALNT14 GALNT17 GLDC GLO1 GLUL GMDS GNPAT GNPTAB GPX1 HAGH HPGDS IDS IL18RAP IL1RAP IL1RAPL1 IL1RAPL2 L1CAM LDHB LIPG LYZ MACROD2 MAN1B1 MBD4 MBOAT7 MRC1 NAGA NAGLU NCAM1 NTM NTNG1 OCRL OGG1 PAFAH1B1 PC PCYT1A PIGH PIGL PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G12A PLA2G4A PLA2G4C PLAUR PLCB1 POMGNT1 PTDSS1 PTEN PTGES3 PTGES PTGS1 PTGS2 RTN4R SCD SDC2 SDC4 SDHB SDHC SDHD SHMT1 SHMT2 SLC25A12 SLC2A3 SLC33A1 SLC35A3 SLC35G1 SMC3 SOAT1 SPHK2 SRD5A3 ST8SIA2 STS SYNJ1 TM7SF2 TNF TPI1 UGT1A1 UPP2	1012 10159 10327 10728 1103 11141 11253 120227 1312 140733 1431 145173 151531 152330 1544 1545 1557 1571 1583 1584 1585 1588 1589 1593 159371 1636 1717 1718 1738 176 18 2026 2053 2131 217 2182 220 2271 22854 23236 23443 2348 2350 2539 2571 2572 26280 27255 27306 2731 2739 275 2752 276 2762 277 278 28 2876 3029 31 340075 3423 353 3556 36 3897 3945 3992 4069 410 412 414 4360 4668 4669 4684 4952 4968 5048 5067 50863 5091 5130 523 5283 5290 5291 5293 5294 5311 5321 5329 53942 54658 54898 55624 55907 56848 5728 5742 5743 6296 6319 6383 6385 6390 6391 6392 64409 64581 6470 6472 65078 6515 6646 683 6900 7108 7124 7167 79143 7915 79158 79623 79644 79868 811 8128 81579 8443 847 8604 8605 8807 8867 8930 9126 9197 9388 9415 9487 952 9536 9791 9993	Homo sapiens (human)
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)

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