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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 **6326 - 6350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0110258	cataract 10 multiple types Aliases: CTRCT10	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:2348	arteriosclerotic cardiovascular disease Aliases: Cardiovascular arteriosclerosis	ABO ACACA ACACB ACADS ACAN ACAT1 ACAT2 ACE ACER2 ACHE ACLY ACOT7 ACSL1 ACSS2 ADH1A ADH1B ADH1C ADH5 AGPAT2 AGXT AKR1A1 AKR1B10 AKR1B1 ALDH2 ALOX12 ALOX15B ALOX5 ALPL ANXA5 APRT ARSA ARSB ARSD ARSI ASGR1 ATP6AP2 ATP6V0A2 B3GAT1 B4GALT1 CACNA2D4 CALR CANX CAT CD14 CD1D CD248 CD44 CD74 CDH13 CEL CERS1 CFC1 CH25H CHGA CHI3L1 CHIT1 CHST3 CLEC1B CLEC4E CLEC5A CLEC6A CLEC7A CLEC9A CNTN3 COLEC12 COMT CPT2 CSGALNACT2 CTBS CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP4F2 CYP7A1 DAG1 DCN DGAT1 DGKK DHCR24 DHCR7 DLD DPEP2 DPEP3 EBP EFNA5 ELOVL6 ENPP1 ENPP7 EPHX2 EXTL3 FADS1 FADS2 FCGR3B FCN2 FCN3 FDPS FMOD FOLR2 FUT3 FUT7 FUT8 GAD1 GAL3ST1 GALNT2 GALNT3 GALNT4 GALNT7 GCK GGT1 GLO1 GLT1D1 GLUL GPD1L GPI GPIHBP1 GPLD1 GPX1 GPX3 GUSB H6PD HACD4 HAS2 HAS3 HJV HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSPG2 ICAM1 IDH2 IGF2R IL18R1 IL1RAP IL1RL1 INPP5D INPP5K ISYNA1 ITLN1 ITPK1 KL KLRK1 LCAT LDHA LGALS2 LGALS3 LIPA LIPC LIPG LMAN1 LPCAT3 LPL LSS LTA4H LYPLA1 LYZ MAG MBL2 MCFD2 MGAM MGLL MICA MMP17 MPI MRC1 MTAP NAAA NAGLU NAMPT NANS NCAM1 NDST4 NDUFAB1 NEU1 NT5E OGA OGDH OGG1 OLR1 OXCT1 PARP1 PARP2 PARP3 PC PCYT1A PCYT1B PEMT PFKL PIGF PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G12A PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G4C PLA2G5 PLA2G6 PLA2G7 PLAUR PLB1 PLCD3 PLCG1 PLPP3 PNP PNPLA2 PNPLA3 PPP1R3B PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RENBP RPN1 SCD SCP2 SDC1 SDC4 SELE SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPD SGMS1 SGMS2 SGPL1 SI SIGLEC1 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A3 SLC33A1 SLC35A1 SLC35G1 SLC39A8 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SPHK1 SPHK2 SRGN ST3GAL4 ST6GAL1 ST6GALNAC5 ST8SIA1 ST8SIA4 STS SUCLA2 SULT1E1 TBXAS1 TM7SF2 TPI1 TYMP UGT1A1 UGT1A6 UMOD VCAM1 VCAN VNN1	10038 10039 100507436 1012 10135 10159 10162 10327 10400 10434 10555 10559 1056 10682 10715 10724 10855 1113 1116 1118 113026 11332 11343 120227 124 125 126 128 1312 1376 139189 142 144423 1462 1486 148738 151056 1543 1544 1545 1555 1557 1558 1559 1571 1573 1576 1577 1579 1581 1585 1586 1588 1589 1593 159371 1594 1605 1634 1636 166929 1717 1718 1738 176 189 1890 1946 2053 2137 217 2180 2215 2220 2224 22914 22933 231 23171 2331 23409 2350 23545 23583 23601 23659 239 240 247 249 2525 2529 2530 2571 2590 2591 259230 26253 26279 2645 26503 2678 2683 27087 27163 27180 27306 2739 2752 28 2821 2822 283420 2876 2878 2990 3037 3038 308 31 32 3290 3339 3383 338328 339221 340075 340485 3418 3482 35 353 3556 3635 3705 38 39 3931 3939 3957 3958 3988 3990 3992 3998 401494 4023 4047 4048 4069 4099 410 411 412 414 4153 43 432 4326 4351 4360 4507 4669 4684 47 4706 4758 4860 4907 4967 4968 4973 5019 5067 5091 51266 5130 51477 51548 5167 51763 51809 5211 5281 5286 5290 5291 5293 5294 5310 5315 5319 5320 5321 5322 5329 5335 54187 54578 54658 55454 55512 5552 55600 5563 55902 55997 5621 56848 57016 57104 57124 5728 5730 5740 5742 5743 5973 60495 6184 6319 6342 6382 6385 6401 6402 6403 64116 64174 64180 6441 64579 64581 6476 6480 6484 6489 6515 6523 653509 6609 6610 6614 6646 6783 6916 7108 7167 729238 7369 7412 7903 79071 7941 79660 80339 81035 811 81579 81849 821 8398 8399 8435 847 8482 8529 8547 8605 8613 8693 8694 8803 8809 8876 8877 8879 8972 9023 90411 912 9126 9173 9197 929 93589 9365 9388 93978 9415 9468 9469 9514 9536 9563 960 972 9957	Homo sapiens (human)
DOID:0090037	torsion dystonia 13	ALDH5A1	7915	Homo sapiens (human)
DOID:1921	Klinefelter syndrome Aliases: 47, XXY Hypogonadotropic Hypogonadism Klinefelter's syndrome XXY syndrome XXY trisomy	CYP19A1 EBP GK IL1RAPL1 PNPLA6 SOAT1 STS	10682 10908 11141 1588 2710 412 6646	Homo sapiens (human)
DOID:0110476	autosomal recessive nonsyndromic deafness 1B Aliases: DFNB1B autosomal recessive deafness 1B	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:11257	social phobia	ABO CAT COMT GAD1 MANEA NANS PSAP	1312 2571 28 54187 5660 79694 847	Homo sapiens (human)
DOID:0060276	pontocerebellar hypoplasia type 7	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0060540	Hermansky-Pudlak syndrome 2	GOLPH3	64083	Homo sapiens (human)
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CHI3L1 FCER2 HPRT1 IL18R1 MRC1 PIK3CA PIK3CB PIK3CD PIK3CG UNG	1116 2208 3251 4360 5290 5291 5293 5294 7374 8809	Homo sapiens (human)
DOID:0060041	autism spectrum disorder	ABAT ACACA ACAN ACSM3 ALDH1A3 AMT AMY1A AMY1B AMY1C ARSA ARSD B3GLCT BST1 CAT CD38 CDH13 CHAT CLEC7A CNTN2 CNTN4 CNTN5 CNTN6 COMT CS CYP11A1 CYP11B1 CYP11B2 CYP19A1 CYP1A2 CYP1B1 CYP27A1 CYP2C19 CYP2E1 CYP2R1 DGCR2 DHCR24 DHCR7 ELOVL2 ENO2 EPHX2 EXT1 FADS1 FADS2 FH FOLR1 FOLR2 GAD1 GAD2 GALNT17 GLO1 GLUL HAGH HPGDS HTR2A IDS IL1RAP IL1RAPL1 IL1RAPL2 L1CAM LDHB LYZ MACROD2 MBOAT7 MRC1 NCAM1 NDST1 NDST2 NDST3 NDST4 NTM OGG1 PAFAH1B1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G12A PLA2G4C PLAUR PLCB1 POMGNT1 PTEN PTGES3 PTGES PTGS1 PTGS2 RTN4R SCD SDC4 SLC25A12 SLC2A3 SLC33A1 SLC35A3 SOAT1 ST8SIA2 STS TM7SF2 TPI1 UGT1A1 UPP2	1012 10728 1103 11141 120227 1312 140733 1431 145173 151531 152330 1544 1545 1557 1571 1583 1584 1585 1588 1593 1717 1718 176 18 2026 2053 2131 220 2271 23236 23443 2348 2350 2571 2572 26280 27255 27306 2739 275 2752 276 277 278 3029 31 3340 3356 3423 3556 3897 3945 3992 4069 410 412 414 4360 4684 4968 5048 50863 5130 5290 5291 5293 5294 5311 5329 53942 54658 54898 55624 5728 5742 5743 6296 6319 6385 64409 64579 64581 65078 6515 6646 683 6900 7108 7167 79143 8128 81579 847 8509 8604 8605 9197 9348 9415 952 9536 9993	Homo sapiens (human)
DOID:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	ABO ACAT1 ACE ACSS2 ALDH2 ALDH7A1 ALDOB ALOX12 ALOX15 ARSA ASAH1 CALR CD44 CEACAM5 CEACAM7 CERS4 CERS5 CHI3L1 CHPT1 COMT CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP2E1 DHCR24 DHDDS EXT1 FH GPX2 GPX3 HMGCS2 HPGDS HSD17B2 MICA MRC1 MUTYH NT5E OGG1 PARP1 PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G4A PNPLA2 PTEN PTGS1 PTGS2 RENBP SMUG1 TDG TKT TKTL1 TYMP UGT1A1 UMPS	100507436 1048 1087 1116 1312 142 1543 1544 1571 1586 1588 1636 1718 1890 2131 217 2271 229 23583 23659 239 246 27306 28 2877 2878 3158 3294 38 410 427 4360 4595 4907 4968 501 5106 5290 5291 5293 5294 5321 54658 55902 56994 57104 5728 5742 5743 5973 6996 7086 7372 79603 79947 811 8277 91012 960	Homo sapiens (human)
DOID:0111112	nephronophthisis 1 Aliases: NPH1 NPHP1 juvenile nephronophthisis 1	ACE MLYCD STS UMOD	1636 23417 412 7369	Homo sapiens (human)
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	PIGS	94005	Homo sapiens (human)
DOID:0110524	autosomal recessive nonsyndromic deafness 76 Aliases: DFNB76 autosomal recessive deafness 76	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:0110970	brachydactyly type C Aliases: BDC	MGAM MGAT3 SI	4248 6476 8972	Homo sapiens (human)
DOID:4992	optic nerve glioma Aliases: glioma of the optic nerve	APRT PIK3CA PIK3CB PIK3CD PIK3CG	353 5290 5291 5293 5294	Homo sapiens (human)
DOID:552	pneumonia Aliases: acute pneumonia	ABO ACADVL ACE ACSS2 AKR1B1 ALDH7A1 ALOX12 ALOX5 ANXA5 APRT ARSA ASAH1 BAAT BST1 CALR CAT CD14 CD248 CD44 CD55 CD74 CEACAM5 CEL CEMIP CHI3L1 CHST7 CLEC1B CLEC6A CLEC7A CLEC9A COLEC11 CRPPA CTSA CYP1A1 CYP1A2 CYP2B6 CYP2E1 DEGS1 EPHX2 FCGR3B FCN2 FDPS FUT2 GLA GPX1 HACD1 HPGDS HSD11B1 ICAM1 IGF2R IL1R1 ISYNA1 ITLN1 KLRB1 LCLAT1 LCT LGALS3 LGALS9 MASP2 MBL2 MCEE MICA MPPE1 MRC1 NAAA NAMPT PARP1 PARP9 PIGW PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G5 PLA2G6 PLD1 PLD2 PNP PTGDS PTGES PTGS1 PTGS2 REG3G RENBP SDC1 SDC2 SDC4 SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SIGLEC8 SLC17A5 SLC27A5 SLC2A10 SLC35A1 SLC5A1 SMC3 SMPD1 SMPD2 SMUG1 SPHK2 ST8SIA4 STS SULF1 TM7SF2 UGCG VCAM1 VCAN	100507436 10135 1048 10559 1056 10747 10998 1116 130120 142 1462 1543 1544 1555 1571 1604 1636 200576 2053 2215 2220 2224 231 23213 23583 23659 239 240 2524 253558 26503 27163 2717 27181 27306 28 283420 284098 2876 308 3290 3383 3482 353 3554 37 3820 3938 3958 3965 410 412 4153 427 4360 4860 501 51266 51477 5290 5291 5293 5294 5310 5319 5320 5321 5322 5337 5338 5476 55600 55902 56548 56848 570 57124 57214 5730 5742 5743 5973 6382 6383 6385 6402 6403 6440 6441 64581 6523 65258 653509 6609 6610 683 7108 729238 729920 7357 7412 78989 7903 81031 811 83666 8398 84693 847 8482 8560 8879 9126 9200 929 93978 9536 960 972	Homo sapiens (human)
DOID:8584	Burkitt lymphoma Aliases: Burkitt lymphoma/leukaemia Burkitt's Lymphoma Burkitt's tumor Burkitt's tumor or lymphoma malignant lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type	A4GALT ACE AKR1B10 ALOX5 BST1 BST2 CALR CAT CD22 CD33 CD38 CD44 CEACAM6 COG1 CYP1A1 CYP2E1 ENO1 FCER2 FCGR3B FCN2 FH FUT4 G6PD GAPDH GBA1 GLB1 HK2 HPGDS ICAM1 IDH2 IL18R1 IL18RAP INPP5D KL KLRK1 LGALS1 LGALS3 LGALS4 LGALS9 LTA4H LYZ MASP2 MBL2 MCAT MICA NAAA NAGLU NAMPT NCAM1 PARP1 PC PGAP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G4A PLCG2 PTEN PTGS2 RPN1 SDC1 SELL SELP SHMT1 SIRT4 SMC3 SMUG1 SOAT1	100507436 10135 10747 142 1543 1571 1636 2023 2208 2215 2220 2271 22914 23409 23583 240 2526 2539 2597 2629 27163 2720 27306 27349 3099 3383 3418 3635 3956 3958 3960 3965 4048 4069 4153 4669 4680 4684 5091 5277 5290 5291 5293 5294 5305 5321 5336 53947 57016 5728 5743 6184 6382 6402 6403 6470 6646 683 684 80055 811 847 8807 8809 9126 933 9365 9382 945 952 960	Homo sapiens (human)
DOID:9597	Krukenberg carcinoma Aliases: Krukenberg neoplasm	CD44 CEACAM5 CEACAM7 PGP	1048 1087 283871 960	Homo sapiens (human)
DOID:10290	prostate lymphoma Aliases: lymphoma of prostate	OPCML	4978	Homo sapiens (human)
DOID:1595	melancholic depression Aliases: endogenous depression major depressive disorder with melancholic features 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 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 PLB1 PLCB1 PLCB4 PLCG1 PLPP5 PNPLA2 PNPLA6 PPP1R3B PPP1R3C PPT1 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 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 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 7957 79586 79660 79661 7991 79947 80055 80351 811 81562 83539 8398 84513 847 8560 8658 8803 8972 9104 9197 9215 929 9348 9365 9394 9415 9420 952 9524 9695 9896 9926	Homo sapiens (human)
DOID:0110587	autosomal dominant nonsyndromic deafness 66 Aliases: DFNA66 autosomal dominant deafness 66	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:0060877	bullous congenital ichthyosiform erythroderma Aliases: bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis	COMT LCT	1312 3938	Homo sapiens (human)
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	MAN2B1 MAN2C1	4123 4125	Homo sapiens (human)
DOID:0110159	Charcot-Marie-Tooth disease type 2B Aliases: CMT2B Charcot-Marie-Tooth neuropathy type 2B HMSN IIB HMSN2B autosomal dominant Charcot-Marie-Tooth disease type 2B hereditary motor and sensory nueropathy IIB	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)

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