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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 **5426 - 5450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0050536	obsolete SC phocomelia syndrome Aliases: Hypomelia Hypotrichosis Facial hemangioma syndrome SC PSEUDOTHALIDOMIDE SYNDROME	MELTF SMC3	4241 9126	Homo sapiens (human)
DOID:12904	mucocele of salivary gland Aliases: Mucous retention cyst of salivary gland Ranula Salivary Cyst Salivary gland mucocele	NT5E	4907	Homo sapiens (human)
DOID:1024	leprosy	ACACA ACOT7 AKR1B10 CD14 CD209 CEACAM5 CLEC9A CYP19A1 CYP2E1 FCN1 FCN2 FCN3 GAL3ST4 HSD11B2 IL18R1 IL1RL1 LGALS3 LTA4H MASP2 MBL2 MICA MRC1 NCAM1 NTM PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC4 SDHD SFTPD SIGLEC5 SMPD2 SMPD3 SOAT1 STS TLR1 TLR2 TNF	100507436 1048 10747 11332 1571 1588 2219 2220 283420 30835 31 3291 3958 4048 412 4153 4360 4684 50863 5105 5290 5291 5293 5294 55512 57016 5728 5743 6385 6392 6441 6610 6646 7096 7097 7124 79690 8547 8778 8809 9173 929	Homo sapiens (human)
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ACAT1 ALDH2 ALDOB CAT DPEP1 FBP1 G6PC1 HAS2 HMGCL HPRT1 INS KHK PC PFKM PLA2G7 PNP PRPS1 SLC37A4 UMOD	1800 217 2203 229 2538 2542 3037 3155 3251 3630 3795 38 4860 5091 5213 5631 7369 7941 847	Homo sapiens (human)
DOID:2703	synovitis	ACLY ACSS2 CD44 CYP19A1 DHCR24 EFNA5 FOLR2 GPI HSD11B1 ICAM1 LGALS3 LPIN2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRKAA2 PRNP PTGS1 SCD SDC4 SMUG1 SOAT1 SPHK2 VCAM1	1588 1718 1946 2350 23583 23659 2821 3290 3383 3958 47 5290 5291 5293 5294 5563 55902 5621 56848 5742 6319 6385 6646 7412 960 9663	Homo sapiens (human)
DOID:0110301	obsolete autosomal dominant limb-girdle muscular dystrophy type 1B	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:0111375	fetal akinesia deformation sequence syndrome Aliases: FADS Pena-Shokeir syndrome type 1 arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome fetal akinesia sequence foetal akinesia deformation sequence syndrome foetal akinesia sequence	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:4012	papillary transitional carcinoma Aliases: Papillary transitional cell carcinoma	AKR1C3 PKM PTEN	5315 5728 8644	Homo sapiens (human)
DOID:8536	herpes zoster Aliases: Shingles herpes zona	ARSA CYP11A1 CYP17A1 ENOSF1 GP2 TECTA TNF	1583 1586 2813 410 55556 7007 7124	Homo sapiens (human)
DOID:1025	tuberculoid leprosy Aliases: Smooth leprosy type T leprosy	ICAM1 ICAM2 VCAM1	3383 3384 7412	Homo sapiens (human)
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	ABO ACACA ACADL ACADS ACADVL ACE ACSL1 ADPRH AGK AGL AGPAT2 ALDH2 ALG1 APRT ARSB ARSD ATP6V1A ATRN CALR3 CALR CAT CBR1 CBR3 CHST3 CNTN3 COG7 CPT1A CPT2 CS CYP11B2 CYP1A1 CYP1B1 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DAG1 DCN DLD DPM3 ECHS1 EPHX2 FASN FIG4 FKRP FKTN FUT4 G6PD GAA GAPDH GBE1 GLA GLB1 GMPPB GNE GNPTAB GPC3 GPX3 GUSB GYG1 GYS1 HADH HADHA HADHB HAS3 HJV HPGDS HPSE ICAM1 IDH2 IDUA IGF2R IL1RL1 KL LDHA LGALS3 LPL MASP2 MBL2 MCAT MGAM MGAT1 MLYCD MMUT MTMR14 NAGA NAMPT NCAM1 NEU1 OLR1 PARP1 PCCA PCCB PDHA1 PGK1 PGM1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G7 PMM2 PNPLA2 POMGNT1 POMK POMT1 PRKAA2 PTEN PTGS2 SCD5 SCD SDHA SDHB SDHD SGSH SI SIRT4 SLC2A10 SLC33A1 SLC5A1 SMUG1 SORD ST3GAL4 SUCLG1 SULT1E1 TPI1	10020 10135 10555 10585 10747 10855 125972 1374 1376 141 142 1431 148738 1543 1545 1557 1559 1571 1585 1594 1605 1634 1636 1738 178 1892 200576 2053 217 2180 2194 2218 23409 23417 23583 2526 2539 2548 2597 2632 2717 2719 2720 27306 27349 28 2878 2990 2992 29925 2997 3030 3032 3033 3038 31 33 3383 3418 3425 3482 35 353 37 3939 3958 4023 411 414 4153 4245 4594 4668 4684 4758 4973 5067 5095 5096 5160 523 5230 5236 5289 5290 5291 5293 5294 5310 5373 54344 55624 5563 55750 56052 57104 5728 5743 6319 6389 6390 6392 64419 6448 6476 6484 6523 6652 6783 7167 79147 79158 7941 79966 81031 811 84197 8455 847 873 874 8802 8972 9173 91949 9197 9365 9469 9896	Homo sapiens (human)
DOID:5563	malignant teratoma Aliases: Immature teratoma Teratoma, malignant, NOS malignant Extragonadal teratoma primary malignant extragonadal teratoma	ACAT1 ALPP DHCR24 ENO2 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PSMD10 PTEN SMUG1	1718 2026 2331 23583 250 2523 2674 38 4199 4360 5236 5716 5728	Homo sapiens (human)
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	AGL AGPAT2 LPL	10555 178 4023	Homo sapiens (human)
DOID:0060270	pontocerebellar hypoplasia type 2D	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PCCA PCCB 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 5095 5096 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:8282	adult epithelioid sarcoma	CD109 NT5E PTEN	135228 4907 5728	Homo sapiens (human)
DOID:2361	macrocytic anemia Aliases: ANEMIA MACROCYTIC Macrocytic anaemia	ABO ACE ACO1 ACSM3 ADH1B AGXT AKR1C4 ALDH2 ALG8 ALOX5 ALPL ARSA B3GLCT CACNA2D3 CALR CAT CD55 CEACAM5 CHI3L1 COG1 COG6 CRPPA CYP1B1 CYP2C8 ECHS1 ENO1 ENPP1 EXT2 FCGR3B FUT1 FUT2 FUT3 G6PC1 G6PC3 G6PD GBA1 GLA GNPTAB GPI GPX1 HK1 HMGCL HPRT1 HPSE ICAM1 IDH1 IDH2 IDUA KL LCAT LIPA LPIN2 MBL2 MMUT MPG NAAA NCAM1 OCRL PARP1 PCCA PCCB PDHA1 PFKM PGAM1 PGK1 PI4KA PIK3CA PKLR PNP PSAP PTEN PTGS2 SCD SDHA SDHB SDHC SFTPA1 SHMT2 SIGLEC1 SLC17A5 SLC39A8 SOAT1 TALDO1 TBXAS1 TMED3 UGCG UGT1A1 UMPS	1048 10855 1109 1116 125 142 145173 1545 1558 1604 1636 189 1892 2023 2132 217 2215 23423 240 249 2523 2524 2525 2538 2539 2629 26503 27163 2717 28 2821 2876 3098 3155 3251 3383 3417 3418 3425 3931 3988 410 4153 4350 4594 4684 48 4860 4952 5095 5096 5160 5167 5213 5223 5230 5290 5297 5313 54658 55799 5660 5728 5743 57511 6296 6319 6389 6390 6391 64116 6472 653509 6614 6646 6888 6916 729920 7357 7372 79053 79158 811 847 92579 9365 9382 9663	Homo sapiens (human)
DOID:13195	nontoxic goiter Aliases: Goiter, non-toxic Goitre, non-toxic Nodule-thyroid, non tox Non-toxic goitre Non-toxic simple goitre	ABO ALPP ATRNL1 CEACAM5 CEACAM7 GGT1 IDH1 IDH2 LDHA PIK3CA PKM PLA2G2A PLA2G6 PTEN PTGDS SDHB SDHC SDHD TM7SF2	1048 1087 250 26033 2678 28 3417 3418 3939 5290 5315 5320 5728 5730 6390 6391 6392 7108 8398	Homo sapiens (human)
DOID:4131	erythrasma Aliases: Infection due to Corynebacterium minutissimum	CAT	847	Homo sapiens (human)
DOID:0110424	dilated cardiomyopathy 1CC Aliases: CMD1CC	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:11983	Prader-Willi syndrome Aliases: Prader Willi syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GHRL GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 51738 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:1837	diabetic ketoacidosis Aliases: DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus	ABO ACACA ACACB ACADSB ACAN ACE ACHE ACOT7 ACSL1 ACSM3 ACSS2 ADH1B ADH1C ADH5 AGA AGPAT1 AGPAT2 AKR1A1 AKR1B10 AKR1B1 AKR1C2 AKR1D1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 ALPI ALPP AMY2A ANXA5 APRT ARSA ASAH2 ATP6AP2 B3GAT1 B4GALNT1 B4GALT1 B4GALT5 BAAT CALR CANX CAT CBR1 CD14 CD1D CD209 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEACAM5 CEL CEPT1 CERS2 CHAT CHGA CHI3L1 CHIT1 CHST3 CLEC16A CLEC1B COMT CPT1A CPT2 CS CSGALNACT1 CTNS CYB5R4 CYP11B2 CYP19A1 CYP1A1 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP7A1 CYP7B1 CYP8B1 DCN DDOST DEGS1 DEGS2 DGAT1 DGCR2 DGKQ DHCR7 DLAT DLD DSE EFNA1 ELOVL3 ELOVL4 ELOVL5 ENO1 ENO2 ENPP1 EXT2 FADS1 FADS2 FASN FBP1 FCER2 FCGR3B FCN2 FDPS FKRP FOLR2 FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNS GALNT3 GAPDHS GAS1 GBA3 GBE1 GCK GFPT1 GGT1 GLA GLB1 GLO1 GLUL GNPNAT1 GPI GPIHBP1 GPX1 GPX3 GUSB GYS1 H6PD HACD1 HAS2 HJV HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HS6ST1 HS6ST3 HSD11B1 HSD11B2 HSD17B4 HSD17B7 HSD3B1 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPP5F INPPL1 IPPK ISYNA1 ITLN1 ITPK1 KDSR KL KLB KLRC3 KLRD1 KLRK1 LDHB LDHC LGALS1 LGALS2 LGALS3 LGALS4 LIPC LPIN1 LPIN2 LPL LY6G6D LYPD5 LYZ MASP1 MASP2 MBL2 MBOAT7 MDH2 MGAM MGAT1 MGAT2 MGAT5 MICA MIOX MMUT MOGAT2 MPG MPI MTM1 MUTYH NAAA NAGLU NAMPT NCAM1 NDST1 OGA OGG1 OGT OLR1 PARP1 PARP2 PC PCK1 PCK2 PCYT1A PCYT1B PDHX PEMT PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PIP5K1B PKD1 PKLR PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCB3 PLCG1 PMM2 PNPLA2 PNPLA3 PPP1R3A PRKAA2 PRKCSH PRSS21 PRSS8 PSMD10 PTEN PTGDS PTGIS PTGS1 PTGS2 REG1B RENBP RFT1 RTN4R SACM1L SCD SDC2 SDC4 SELE SELL SELP SFTPA1 SFTPC SFTPD SGSH SI SIGLEC5 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A10 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC33A1 SLC35A1 SLC35G1 SLC37A4 SLC39A8 SLC3A1 SLC5A1 SMPD1 SMUG1 SOAT1 SORD SPHK1 SPHK2 SRD5A2 ST3GAL4 ST6GAL1 ST8SIA4 STS SUCLA2 SULT1E1 TALDO1 TKFC TKT TKTL1 TKTL2 TM7SF2 TREH UGCG UGT1A1 UMOD UPP1 VCAM1 VCAN VTCN1 XYLT1 XYLT2	10038 100507436 1012 10135 10159 10327 10390 10400 1048 10554 10555 10559 1056 10724 10747 10855 10942 1103 1113 1116 1118 11181 11332 120227 123099 125 126 128 1312 1374 1376 142 1431 1462 148738 1497 151056 152831 154091 1543 1544 1555 1557 1559 1571 1573 1576 1577 1579 1581 1582 1585 1588 1589 1591 1593 159371 1594 1604 1609 1634 1636 1646 1650 1717 1737 1738 175 176 1942 2023 2026 2132 217 2180 2194 2203 2208 2215 2220 2224 224 22876 22908 22914 22933 231 23175 23236 23274 23409 2350 23583 23659 239 240 247 248 250 2524 2531 2538 2539 2542 2571 2572 2583 2588 2591 26007 2619 2632 26330 2645 26503 266722 2673 2678 2683 27036 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2990 29940 29956 2997 29988 3037 308 30835 3098 3099 31 3158 32 3251 3283 3290 3291 3295 3339 3340 3383 338328 3482 353 3554 36 3635 3636 3705 3823 3824 3945 3948 3956 3957 3958 3960 3990 3992 4023 4069 410 412 4153 4191 4245 4247 4249 43 4350 4351 4534 4594 4595 4669 4684 4968 4973 5091 5105 5106 51167 51266 5130 51477 51478 51548 5167 5209 5236 5290 5291 5293 5294 5310 5313 5319 5320 5329 5331 5335 5373 54658 5506 55586 55600 5563 55790 5589 55902 5648 5652 56624 56848 570 57016 57104 5716 5728 5730 5740 5742 5743 57733 57818 58530 5968 5973 60481 60495 6296 6319 6383 6385 6401 6402 6403 64116 64131 64132 6440 6441 6448 6476 64768 6480 6484 64841 65078 6514 6515 6517 6519 6523 653509 6609 6646 6652 6716 6718 6783 6785 6888 7086 7108 7357 7369 7378 7412 7903 79143 79147 7941 79679 79837 80168 80339 8050 81031 811 821 8277 83401 8395 8398 8399 84076 847 8473 8560 8694 873 8778 8803 8807 8809 8877 8972 912 9173 91869 9197 9200 929 9334 9365 9394 9415 9420 945 9468 9469 9514 952 9563 960 962 9663 972 9993	Homo sapiens (human)
DOID:2384	Wernicke encephalopathy Aliases: Wernicke's disease Wernicke's encephalopathy	PTGS2 SMUG1 TKT	23583 5743 7086	Homo sapiens (human)
DOID:1729	retinal vascular occlusion Aliases: Retinal vasc. occlusion	CALR CNTN2 PIK3CA	5290 6900 811	Homo sapiens (human)
DOID:5075	myxopapillary ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)
DOID:13564	aspergillosis Aliases: Infection due to Aspergillus	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1 TLR1 TLR6	10333 1557 1595 28 30835 3956 4153 4360 51267 523 64581 7096 847 929	Homo sapiens (human)

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