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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 **1701 - 1725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:285	hairy cell leukemia	ACSBG1 ANXA5 B3GAT1 CD1D CD22 CD44 CYP19A1 ENPP1 GPX1 HEXB NCAM1 NDUFAB1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1588 23205 23583 27087 2876 3074 308 4684 4706 5167 5290 5291 5293 5294 912 933 960	Homo sapiens (human)
DOID:713	HCL-V Aliases: Hairy cell leukaemia variant Hairy cell leukemia variant	ACSBG1 ANXA5 B3GAT1 CD1D CD22 CD44 CYP19A1 ENPP1 HEXB NCAM1 NDUFAB1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1588 23205 23583 27087 3074 308 4684 4706 5167 5290 5291 5293 5294 912 933 960	Homo sapiens (human)
DOID:0060901	lymphoplasmacytic lymphoma Aliases: Waldenstroem's macroglobulinemia Waldenstrom Macroglobulinemia lymphoplasmacytic lymphoma with IgM gammopathy	ACSBG1 ANXA5 CD22 CD38 CLEC12A COLEC10 FCER2 GPX3 HAS1 HAS2 HMMR LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 2208 23205 23583 2878 3036 3037 308 3161 347734 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)
DOID:0110119	autoimmune lymphoproliferative syndrome type 3 Aliases: ALPS3 autoimmune lymphoproliferative syndrome type III	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:0070324	systemic Epstein-Barr virus positive T-cell lymphoma of childhood Aliases: EBV-positive T-cell lymphoproliferative disorder of childhood systemic EBV-positive T-cell lymphoma of childhood	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:0060707	lymphoproliferative syndrome 1 Aliases: LPFS1	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:0110115	autoimmune lymphoproliferative syndrome type 2A Aliases: ALPS2A autoimmune lymphoproliferative syndrome type IIA	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:0060708	lymphoproliferative syndrome 2 Aliases: CD27 deficiency LPFS2	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:0110116	autoimmune lymphoproliferative syndrome type 2B Aliases: ALPS with recurrent viral infections ALPS2B CEDS Caspase 8 deficiency Caspase 8 deficiency syndrome Caspase eight deficiency state autoimmune lymphoproliferative syndrome type IIB autoimmune lymphoproliferative syndrome with recurrent viral infections	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:0050120	hemophagocytic lymphohistiocytosis Aliases: haemophagocytic syndrome	ACSBG1 B3GAT1 FUT1 HADHA NAAA NCAM1 SMUG1	23205 23583 2523 27087 27163 3030 4684	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:8437	intestinal obstruction	ACSBG1 CD55 GGT1 PTGES PTGS2 SDHA SDHB SDHC SDHD	1604 23205 2678 5743 6389 6390 6391 6392 9536	Homo sapiens (human)
DOID:8440	ileus Aliases: Ileus of intestine	ACSBG1 CD55 GGT1 PTGES PTGS2 SDHA SDHB SDHC SDHD	1604 23205 2678 5743 6389 6390 6391 6392 9536	Homo sapiens (human)
DOID:14749	methylmalonic acidemia Aliases: methylmalonic aciduria	ACSF3 ALDH6A1 MCEE MMUT PIK3CA SUCLA2 SUCLG1 SUCLG2	197322 4329 4594 5290 84693 8801 8802 8803	Homo sapiens (human)
DOID:0111263	combined malonic and methylmalonic acidemia Aliases: CMAMMA combined malonic and methylmalonic aciduria	ACSF3	197322	Homo sapiens (human)
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	ACSL1 DGKA DGKB DGKG DHCR24 G6PC1 GCK HK1 HK2 HK3 HKDC1 IRS2 PIK3CB PIK3CD SLC2A2 TLR4	1606 1607 1608 1718 2180 2538 2645 3098 3099 3101 5291 5293 6514 7099 80201 8660	Homo sapiens (human)
DOID:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	ACSL3 ACSL4 ADH5 ALDH3A1 ALDH3A2 ALDH3B1 ALDH3B2 ALOX12B CERS3 EBP ELOVL4 GBA1 HSD17B6 MRC1 NSDHL STS SULT2B1	10682 128 204219 218 2181 2182 221 222 224 242 2629 412 4360 50814 6785 6820 8630	Homo sapiens (human)
DOID:0050776	non-syndromic X-linked intellectual disability Aliases: non-specific X-linked mental retardation	ACSL3 ACSL4 ALG13 EPM2A HPRT1 IL1RAPL1 STS	11141 2181 2182 3251 412 7957 79868	Homo sapiens (human)
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)
DOID:11193	syndactyly Aliases: symphalangism symphalangy webbing of digits	ACSL3 B3GLCT CHSY1 FIG4 MAN1B1 MMUT PIK3CA PTDSS1	11253 145173 2181 22856 4594 5290 9791 9896	Homo sapiens (human)
DOID:11836	clubfoot Aliases: Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus	ACSL4 AGA AKR1C1 ALG12 ALG13 ALG14 ALG2 ALG3 ALG8 ARSI ATP6AP2 ATP6V0A2 ATP6V1A B3GALT6 B3GAT3 B4GALT7 CHAT CHST14 CHST3 COG1 COG4 COG8 COMT CPT2 CYP1A1 DHCR24 DPAGT1 DPM3 DSE EBP EOGT EXT1 EXT2 FASN GFPT1 GMPPB GNPTAB GPC3 GUSB HACD1 HADHA HADHB HS6ST1 HSD17B4 HSPG2 IL1RAPL1 INPP5E L1CAM MGAT2 MTMR2 PI4KA PLOD3 PMM2 POMT1 PTEN RFT1 SC5D SLC26A2 SLC35A2 SMC3 TGDS XYLT1 XYLT2	10159 10195 10585 10682 1103 11141 11285 113189 126792 1312 1376 1543 1645 1718 175 1798 1836 199857 2131 2132 2182 2194 23483 23545 25839 26229 2673 2719 285203 2990 29925 29940 3030 3032 3295 3339 340075 3897 4247 523 5297 5373 54344 56623 5728 6309 64131 64132 7355 79053 79087 79158 79868 84342 85365 8898 8985 9126 91869 9200 9382 9394 9469	Homo sapiens (human)
DOID:12639	pyloric stenosis	ACSL4 AGPAT2 ALG13 FIG4 IL1RAPL1 MTM1 SLC2A10 SLC35A2 SMC3 TMTC3	10555 11141 160418 2182 4534 7355 79868 81031 9126 9896	Homo sapiens (human)
DOID:3777	granuloma annulare Aliases: Granulome annulare	ACSL4 AKR1A1 ALDH2 ALDH3A2 CLEC7A COL9A2 EBP ELOVL4 GAPDH ICAM1 KDSR NSDHL PGM3 PIGL PLCG2 PTGS2 RENBP SOAT1 ST3GAL4 SULT2B1	10327 10682 1298 217 2182 224 2531 2597 3383 50814 5238 5336 5743 5973 64581 6484 6646 6785 6820 9487	Homo sapiens (human)
DOID:234	colon adenocarcinoma Aliases: Colonic adenocarcinoma adenocarcinoma of colon	ACSL4 AKR1B1 ANXA7 ARSA CD44 CEACAM5 CEACAM7 CYP1A1 CYP24A1 CYP3A4 DHRS11 DLD FUT10 FUT2 FUT3 FUT4 GALNT6 HSD17B7 LDHA LGALS3 LGALS4 MUTYH PGP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLAUR PLB1 PLCB1 PLD2 PTGS2 SDC2 SLC2A5 SLC5A1 SOAT1 ST6GAL1 SULT1E1 TM7SF2 UGT1A1	1048 1087 11226 151056 1543 1576 1591 1738 2182 231 23236 2524 2525 2526 283871 310 3939 3958 3960 410 4595 51478 5290 5291 5293 5294 5320 5329 5338 54658 5743 6383 6480 6518 6523 6646 6783 7108 79154 8399 84750 960	Homo sapiens (human)
DOID:2373	hereditary elliptocytosis Aliases: Congenital elliptocytosis ovalocytosis	ACSL4 ALDOA ALPL ALPP ATRNL1 CAT CD55 ENPP1 G6PD GPI HK1 NDUFAB1 PKLR TPI1 UGT8	1604 2182 226 249 250 2539 26033 2821 3098 4706 5167 5313 7167 7368 847	Homo sapiens (human)

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