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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 **1951 - 1975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0050883	infantile cerebellar-retinal degeneration	ACO2	50	Homo sapiens (human)
DOID:1561	cognitive disorder Aliases: cognitive disease	ACHE CD14 CD38 COMT IGF2R SMUG1	1312 23583 3482 43 929 952	Homo sapiens (human)
DOID:4051	alveolar rhabdomyosarcoma Aliases: alveolar childhood rhabdomyosarcoma	CPT1A NCAM1 PIK3CA SGPL1 SLC2A4 SMUG1	1374 23583 4684 5290 6517 8879	Homo sapiens (human)
DOID:10354	breast fibrocystic disease Aliases: Diffuse cystic mastopathy Fibrocystic disease of breast breast Fibrocystic Change	ACE CEACAM5 CEACAM7 COMT CRLS1 CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 DCN GFRA1 GLA HSD17B1 INPP4B LPCAT1 MICA NCAM1 PTEN PTGS2 SDC3	100507436 1048 1087 1312 1543 1545 1583 1586 1588 1634 1636 2674 2717 3292 4684 54675 5728 5743 79888 8821 9672	Homo sapiens (human)
DOID:2481	obsolete infantile epileptic encephalopathy	ABAT ALDH7A1 ALG13 ALG2 ALG3 AMT ATP6V1A B3GALNT2 CACNA2D1 CYP2C19 DHDDS EPM2A GAPDH GCK GLYCTK HIBCH HMGCL HSD17B4 LMAN2L MAN1B1 MBOAT7 NDST1 NGLY1 PAFAH1B1 PDHA1 PGAP1 PIGA PIGC PIGP PIGQ PIGW PLCB1 PMM2 RFT1 SLC35A2 SLC39A8 SRD5A3 ST3GAL3 SYNJ1 TECR TUSC3	10195 11253 132158 148789 1557 18 23236 2597 26275 2645 275 284098 3155 3295 3340 501 5048 51227 5160 523 5277 5279 5373 55768 64116 6487 7355 781 79143 7957 79644 79868 7991 79947 80055 81562 85365 8867 9091 91869 9524	Homo sapiens (human)
DOID:0050933	ovarian serous carcinoma	NCAM1 PTEN	4684 5728	Homo sapiens (human)
DOID:3240	aspiration pneumonitis Aliases: Chemical pneumonitis Mendelson's Syndrome	ACE CAT CHAT PMM2	1103 1636 5373 847	Homo sapiens (human)
DOID:11693	acute apical periodontitis Aliases: acute apical periodontitis of pulpal origin	LGALS3	3958	Homo sapiens (human)
DOID:8295	scabies Aliases: Infestation by Sarcoptes scabiei Infestation by Sarcoptes scabiei var hominis Sarcoptic itch	CAT	847	Homo sapiens (human)
DOID:9588	encephalitis	ACE ADH5 AGA ALOX5 APRT ARSA ATP6V0A2 CAT CD1D CD38 CD44 CD48 CD74 CD93 CEMIP CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CLEC12A COMT CPT1A CPT2 CYP17A1 CYP27B1 CYP46A1 DEGS1 DGAT1 ENO2 ENPP1 FASN FCER2 FOLR2 FUT7 FUT8 GAD1 GAD2 GANAB GAPDH GCK GLUL GPI HPGDS HPRT1 HPSE ICAM1 ICAM5 IL1R1 ISYNA1 KL KLRK1 L2HGDH LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LY75 MGLL MRC1 NCAM1 NDST1 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PRNP PSMD10 PTEN PTGDS PTGES PTGS2 RGMA RTN4R SDC1 SELE SELP SEMA7A SIGLEC1 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 STS TMED5 TNF TPI1 VCAM1	10724 10855 10858 1103 1113 1116 11343 128 1312 1374 1376 142 151056 1586 1594 160364 1636 175 2026 2194 2208 22914 22918 23193 2350 23545 23583 240 2529 2530 253782 2571 2572 2597 2645 27306 2752 2821 29956 3251 3340 3383 353 3554 3939 3956 3958 3960 3964 3965 4065 410 412 4360 4684 4907 50999 51477 51548 5167 5290 5291 5293 5294 5315 5319 5320 5321 5621 56848 56963 5716 57214 5728 5730 5743 6382 6401 6403 6484 65078 6609 6614 6646 7087 7124 7167 7412 79944 8398 847 8482 8560 8694 8877 9023 912 9365 952 9536 960 962 972	Homo sapiens (human)
DOID:0110174	Charcot-Marie-Tooth disease axonal type 2L Aliases: CMT2L Charcot-Marie-Tooth neuropathy axonal type 2L autosomal dominant Charcot-Marie-Tooth disease type 2L autosomal dominant axonal Charcot-Marie-Tooth disease type 2L	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:12361	Graves' disease Aliases: Grave's disease Graves disease exophthalmic goiter	ABO ACACA ACE ADIPOQ ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 TNF TP53 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7124 7157 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929 9370	Homo sapiens (human)
DOID:0112222	developmental and epileptic encephalopathy 88 Aliases: DEE88 early infantile epileptic encephalopathy 88	MDH1	4190	Homo sapiens (human)
DOID:0110511	autosomal recessive nonsyndromic deafness 59 Aliases: DFNB59 autosomal recessive 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:0060798	hypomyelinating leukodystrophy 6 Aliases: H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum	GBA1	2629	Homo sapiens (human)
DOID:4790	medulloepithelioma Aliases: Diktyoma, malignant Medulloepithelioma, central nervous system	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	ACADVL ACE ACOX1 ACSL4 ACSM3 AGRN AKR1A1 ALG11 ALG12 ALOX12B ARSB ARSG ASAH1 B3GALNT2 B3GLCT CA4 CACNA2D2 CAT CERS3 CHAT CHST14 CHST3 COG1 COG4 COG5 COG7 COL9A2 COLEC10 COLEC11 CTSA CYP7B1 DHCR7 DOLK EBP ECHS1 ENPP1 FIG4 FKTN FUCA1 G6PC3 GAA GALC GALNS GAS1 GBA1 GBA2 GCK GLA GLB1 GMPPA GMPPB GNS GPC3 GUSB HEXA HGSNAT HPGDS HS6ST1 HSD17B4 IDH2 IDH3A IDH3B IDS IDUA KDSR L2HGDH LGALS1 LRTOMT MAN2B1 MANBA MASP1 MBL2 MGAT2 MOGS MTAP NAGA NAGLU NEU1 NPL NT5E NTNG1 OTOA OTOG PCYT1A PDHA1 PGAP2 PGM3 PIGA PIGL PIGO PIGV PIK3C2A PIK3CA PLA2G6 PLCB4 PLOD3 PNPLA2 PNPLA6 POMGNT1 POMT1 PRPS1 PTDSS1 PTEN PTGDS PTGS2 RFT1 SC5D SCD SDHA SDHB SDHC SDHD SGPL1 SGSH SLC26A2 SLC33A1 SLC35A2 SLC35G1 SLC39A8 SMC3 SPTLC1 ST3GAL5 SUCLA2 SUMF1 TALDO1 TECTA TMTC2 TNF UGT1A1 XYLT2	10327 10466 10558 10584 10585 10682 10908 1103 113189 1298 138050 145173 146183 148789 159371 160335 1636 1717 1836 1892 204219 2182 220074 2218 22845 22854 22901 242 2517 2531 2548 2581 25839 2588 2619 2629 2645 2717 2719 2720 27306 27315 2799 285362 2990 29925 29926 3073 3295 340990 3418 3419 3420 3423 3425 37 375790 3956 411 4125 4126 4153 4247 427 440138 4507 4668 4669 4758 4907 51 5130 5160 5167 5238 5277 5286 5290 5332 54658 5476 55624 55650 5631 5648 57104 5728 5730 5743 57704 6296 6309 6319 6389 6390 6391 6392 64116 64132 6448 6888 7007 7124 7355 762 7841 78989 79087 79944 80896 8398 847 84720 8803 8869 8879 8985 9126 91869 91949 9197 9254 92579 9382 9394 9420 9469 9487 9791 9896	Homo sapiens (human)
DOID:1793	pancreatic cancer Aliases: Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor	A4GNT ABO ACADS ACE ACO1 ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 AGPAT1 AKR1A1 AKR1B10 AKR1B1 AKT1 ALDH1A3 ALDH1B1 ALDH2 ALDOA ALOX12B ALOX15 ALOX5 ALPI ALPP AMACR ANXA5 APRT ART1 ASAH1 B3GALT5 B3GNT6 BAD BCKDHB BPHL BRAF C1GALT1C1 CALR CAT CBR1 CBR4 CD109 CD14 CD248 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHKA CHPT1 CHST15 CHSY3 CLEC14A CLEC7A COMT CS CSPG4 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 FUT2 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 HS3ST2 HS3ST3B1 HSPG2 HYAL1 ICAM1 ICAM2 IDH1 IGF2R IL18R1 INPP4A INPP4B INS KL KLRK1 L1CAM LDHA LDHB LFNG LGALS1 LGALS3 LGALS4 LGALS9 LTA4H LYPD5 LYPLA1 MACROD1 MAG MCAT MDH1 ME2 ME3 MGAT4A MICA MMUT MRC1 MSLN MTAP MUTYH NAMPT NCAM1 NEU2 NT5E OGDHL OGG1 OGT OLR1 PAFAH1B2 PARG PARP10 PARP14 PARP1 PARP4 PCYT1A PDHX PFKFB3 PFKFB4 PFKM PFKP PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2B PIP5K1A PIP5K1B PKD1 PKLR PKM PLA2G15 PLA2G4A PLAUR PNLIP PNP PNPLA2 PPARD PRKAA2 PRNP PSMD10 PTEN PTGES PTGS1 PTGS2 RECK 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 TP53 TUSC3 TYMP UGP2 UGT1A1 UGT1A3 UGT1A7 UGT8 ULBP2 UMPS VCAM1 VCAN VTCN1	10020 100507436 1012 10135 10232 10317 10327 10434 10457 1048 10554 1056 10855 1087 10873 1113 1116 1119 11227 11320 120227 124 125 126 127 128 130 130120 1312 135228 142 143 1431 1462 1464 1543 1544 1545 1555 1557 1576 1586 1591 1595 1605 1606 161198 1634 1635 1636 1718 1738 1800 1890 192134 1943 2023 2053 207 217 219 2194 220 2203 2215 2220 2224 226 2262 2271 22914 22933 231 23213 23409 2348 2350 23583 23600 23659 240 242 246 248 250 2524 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 3630 3631 3897 3939 3945 3955 3956 3958 3960 3965 3992 4048 4099 417 4190 4200 427 4360 4507 4594 4595 4680 4684 4759 48 4860 4907 4968 4973 5049 51146 5130 51363 51548 5167 5209 5210 5213 5214 5230 5290 5291 5293 5294 5310 5313 5315 5321 5329 5406 54577 54625 54658 54659 5467 54978 5563 55753 55902 55959 5621 56848 56994 57016 57104 57124 5716 572 57214 5728 5742 5743 594 6382 6401 6403 6441 64581 6480 6484 6523 6646 670 673 6996 7108 7157 7360 7368 7372 7412 79623 79679 7991 79947 80328 8050 811 8394 8395 8396 8434 847 8473 8482 84869 84875 8505 873 8794 8809 8821 8877 9104 9245 929 9365 9536 960 9672 972 9953 9956	Homo sapiens (human)
DOID:2745	narcissistic personality disorder	COMT IMPA1	1312 3612	Homo sapiens (human)
DOID:3451	skin carcinoma Aliases: carcinoma of skin	CYP1A1 CYP27A1 CYP27B1 HPGDS HSD11B2 INPP5K MICA MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	100507436 1543 1593 1594 27306 3291 4360 51763 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:9080	macroglobulinemia Aliases: primary macroglobulinemia	ACADVL ACSBG1 ANXA5 CD22 CD38 CD55 CLEC12A COLEC10 FCER2 HAS1 HAS2 HMMR LIPC LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 1604 2208 23205 23583 3036 3037 308 3161 347734 37 3990 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)
DOID:5363	myxoid liposarcoma Aliases: Myxoid/round cell liposarcoma	EBP PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	10682 23583 5290 5291 5293 5294	Homo sapiens (human)
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)
DOID:13868	hypoactive sexual desire disorder Aliases: Lack or loss of sexual desire	CYP17A1	1586	Homo sapiens (human)
DOID:0090122	aromatase excess syndrome Aliases: AEXS familial hyperestrogenism hereditary prepubertal gynecomastia increased aromatase activity	ACACA AGPAT2 CD44 CFC1 CYP11B1 CYP19A1 CYP21A2 CYP2B6 H6PD IDH1 IDH2 PIGP PIGQ PTEN PTGS2 SLC35A2	10555 1555 1584 1588 1589 31 3417 3418 51227 55997 5728 5743 7355 9091 9563 960	Homo sapiens (human)

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