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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 **4076 - 4100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:4932	ampulla of Vater carcinoma Aliases: ampulla of vater cancer ampullary carcinoma carcinoma of ampulla of vater	CD44 CEACAM5 CYP1A1 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	1048 1543 4594 5290 5291 5293 5294 5743 960	Homo sapiens (human)
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	ACHE AKR1B1 CHST3 CYP2B6 CYP2C19 CYP2C9 HSPG2 MICA SGSH	100507436 1555 1557 1559 231 3339 43 6448 9469	Homo sapiens (human)
DOID:13628	favism	ACSL4 ALDOA CAT CD55 G6PD GPI HK1 NDUFAB1 PKLR TPI1 UGT8	1604 2182 226 2539 2821 3098 4706 5313 7167 7368 847	Homo sapiens (human)
DOID:0060063	sideroblastic anemia 1 Aliases: X-linked sideroblastic anaemia X-linked sideroblastic anemia XLSA sideroblastic anaemia 1	SUCLA2	8803	Homo sapiens (human)
DOID:0050565	autosomal recessive nonsyndromic deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA TMTC4	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007 84899	Homo sapiens (human)
DOID:2531	hematologic cancer Aliases: Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm	A4GALT ABAT ABO ACE ACSL5 ACSL6 ALPI ALPP CALR CD109 CD22 CD38 CD44 CD74 CEACAM5 CEACAM7 CEL CERS6 CHI3L1 CHKA CHST9 COG1 CYP2B6 CYP2C19 CYP2J2 EBP FCGR3B FOLR2 FUT1 G6PD GPI HPGDS ICAM1 IDH1 IDH2 INPP5D KL KLRC1 LGALS3 LPL MICA MRC1 MSLN NCAM1 PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PNP PPP1R3A PRKAA2 PTEN PTGS2 RECK SDC1 SELP SFTPA1 SIRT6 SOAT1 SPACA3 SPHK2 TP53 UGCG UGT1A4 UGT2B17	100507436 10232 1048 1056 10682 1087 1116 1119 124912 135228 142 1555 1557 1573 1636 18 2215 23305 2350 248 250 2523 253782 2539 27306 28 2821 3383 3417 3418 3635 3821 3958 4023 4360 4684 4860 5048 5130 51548 51703 5290 5291 5293 5294 5305 53947 54657 5506 5563 56848 5728 5743 6382 6403 653509 6646 7157 7357 7367 811 83539 8434 933 9365 9382 952 960 972	Homo sapiens (human)
DOID:8691	mycosis fungoides Aliases: mycosis fungoides lymphoma	ACSBG1 CD44 FUT4 LGALS1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4D PTEN PTGS2 SELL SMUG1	23205 23583 2526 283748 3956 4507 4684 5290 5291 5293 5294 5315 5728 5743 6402 960	Homo sapiens (human)
DOID:9801	tuberculous peritonitis	CEACAM5 CEACAM7 PTGS2	1048 1087 5743	Homo sapiens (human)
DOID:1138	spinal meningioma Aliases: Spinal Cord meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:119	vaginal cancer Aliases: malignant neoplasm of vagina malignant tumor of vagina malignant vaginal tumor neoplasm of vagina vagina neoplasm vaginal tumor	FH SMUG1	2271 23583	Homo sapiens (human)
DOID:13133	HELLP syndrome	GAPDH HADHA HPGDS HSPG2 IL18R1 MBL2 SIRT4 SLC17A5	23409 2597 26503 27306 3030 3339 4153 8809	Homo sapiens (human)
DOID:0110914	infantile hypophosphatasia Aliases: Hops phosphoethanolaminuria	ALPL ALPP ATRNL1	249 250 26033	Homo sapiens (human)
DOID:7566	eccrine porocarcinoma Aliases: Eccrine porocarcinoma of skin Porocarcinoma malignant Eccrine Poroma	CEACAM5	1048	Homo sapiens (human)
DOID:0110177	Charcot-Marie-Tooth disease axonal type 2N Aliases: CMT2N Charcot-Marie-Tooth neuropathy axonal type 2N autosomal dominant Charcot-Marie-Tooth disease type 2N autosomal dominant axonal Charcot-Marie-Tooth disease type 2N	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:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	APRT ENO2 G6PC1 GAA GBE1 IMPA1 PFKM PYGL PYGM	2026 2538 2548 2632 353 3612 5213 5836 5837	Homo sapiens (human)
DOID:0110845	xeroderma pigmentosum group D Aliases: XP group D XP group H XP4 XP8 XPD XPDC XPH xeroderma pigmentosum IV xeroderma pigmentosum VIII	CAT COMT CYP1B1 HPGDS HPRT1 ICAM1 OGG1 PTEN SLC35A2 SMUG1 TALDO1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 XYLT2	1312 1545 23583 27306 3251 3383 4968 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 5728 64132 6888 7355 847	Homo sapiens (human)
DOID:7212	meningothelial meningioma Aliases: Meningotheliomatous meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:277	chorioangioma Aliases: Placental hemangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	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:14256	adult-onset Still's disease Aliases: adult onset Still's disease adult-onset Still disease	CLEC7A GCK ICAM1 SELL SMUG1	23583 2645 3383 6402 64581	Homo sapiens (human)
DOID:0050954	spinocerebellar ataxia type 1	CAT ELOVL5 GLO1 HSD17B6	2739 60481 847 8630	Homo sapiens (human)
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	CEACAM5 FASN IDH2 INPP5K MBD4 MRC1 PARP1 PIK3CA PTEN PTGES PTGS2 SULF1 VCAM1	1048 142 2194 23213 3418 4360 51763 5290 5728 5743 7412 8930 9536	Homo sapiens (human)
DOID:13544	low tension glaucoma Aliases: Normal tension glaucoma	ABO ACOT8 AKR1B1 CYP1B1 ELOVL5 GALC GNS HK2 PTEN TLR4 TMTC2 TNF TP53	10005 1545 160335 231 2581 2799 28 3099 5728 60481 7099 7124 7157	Homo sapiens (human)
DOID:0110826	Usher syndrome type 1 Aliases: US1 USH1	ALDH7A1 RPE STS	412 501 6120	Homo sapiens (human)
DOID:0060262	gallbladder disease	ACACA ACADM ACADVL ACE ACHE ACOT7 ADH1A ADH1B ADH1C AKR1A1 AKR1B10 AKR1C1 AKR1D1 ALDH1B1 ALDH2 ALPP AMACR ARSH ASAH2 ATP6AP1 ATP6AP2 ATRNL1 CCDC115 CD14 CD1D CD209 CEACAM5 CEACAM7 CFC1 CHI3L1 CLEC1B COMT CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP4F3 CYP51A1 CYP7A1 CYP7B1 DLAT EHHADH ENO3 ENPP2 EXT1 FUT1 FUT2 G6PC1 GALT GANAB GBE1 GGT1 GLO1 GOLPH3 GP2 GPC3 GUSB H6PD HADH HADHA HAS1 HAS3 HK3 HMGCS2 HPGDS HSD11B1 HSD17B6 HSD3B7 ICAM1 IGF2R IL1RAP IMPA1 ISYNA1 KLRK1 LCAT LGALS3 LGALS9 LIPA LYZ MAN1B1 MASP1 MBL2 MBOAT7 MICA MPI MTAP NAGA NAMPT NCAM1 NEIL1 NTM OGG1 OLR1 OPCML PEMT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G5 PMM2 PNPLA3 POFUT1 PRKAA2 PRKCSH PTEN PTGS2 RENBP RGN SC5D SDC1 SELP SIGLEC7 SIRT6 SLC17A5 SLC35A2 SMUG1 SPHK2 SRD5A2 ST3GAL4 ST6GAL1 ST8SIA1 ST8SIA4 STS SULT1E1 TALDO1 TKT TM7SF2 TMEM199 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMOD VCAM1 XYLT2	100507436 10135 10159 10327 10400 1048 1087 1116 11253 11332 124 125 126 1312 147007 1543 1544 1545 1555 1557 1559 1571 1576 1581 1586 1595 1636 1645 1737 1962 2027 2131 217 219 22914 23193 23509 23583 23600 250 2523 2524 2538 2592 26033 2632 26503 2678 27036 2719 27306 2739 2813 2990 3030 3033 3036 3038 30835 31 3101 3158 3290 3383 34 347527 3482 3556 3612 37 3931 3958 3965 3988 4051 4069 412 4153 43 4351 4507 4668 4684 4968 4973 4978 50863 51266 51477 51548 5168 5290 5291 5293 5294 5315 5322 537 5373 54575 54576 54577 54578 54579 54600 54657 54658 54659 5563 5589 55997 5648 56624 56848 56886 57016 5728 5743 5973 6309 6382 6403 64083 64132 6480 6484 6489 6716 6718 6783 6888 7086 7108 7355 7364 7369 7412 7903 79143 79661 80270 80339 84317 8630 9104 912 929 9420 9563	Homo sapiens (human)

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