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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 **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:9278	hyperargininemia Aliases: Arginase deficiency argininemia deficiency of canavanase	ARSD	414	Homo sapiens (human)
DOID:11613	hyperandrogenism Aliases: hyperandrogenization syndrome	ACE AKR1C3 CYP11A1 CYP17A1 CYP19A1 CYP21A2 H6PD HSD11B1 HSD17B7 HSD3B2 IL6ST NAMPT PAPSS2 PIK3CA PIK3CB PIK3CD PIK3CG STS UGT2B15	10135 1583 1586 1588 1589 1636 3284 3290 3572 412 51478 5290 5291 5293 5294 7366 8644 9060 9563	Homo sapiens (human)
DOID:0111369	hyperalphalipoproteinemia 1 Aliases: HALP1	GALNT2 LCAT LIPC LIPG LPL	2590 3931 3990 4023 9388	Homo sapiens (human)
DOID:0080544	hyper IgM syndrome Aliases: HIGM hyperimmunoglobulin M syndrome immunodeficiency with hyper-IgM	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:0080596	hyper IgE recurrent infection syndrome 4	IL6ST	3572	Homo sapiens (human)
DOID:3261	hyper IgE recurrent infection syndrome 1 Aliases: Job syndrome Job's syndrome hyperimmunoglobulin E syndrome	ICAM1 PGM3 SOAT1	3383 5238 6646	Homo sapiens (human)
DOID:11212	hydrophthalmos	ARSD B3GAT3 CHST3 CYP1B1 CYP2B6 DAG1 FKRP FKTN FUT8 LARGE1 OCRL POMGNT1 POMT1 POMT2 PTEN	10585 1545 1555 1605 2218 2530 26229 29954 414 4952 55624 5728 79147 9215 9469	Homo sapiens (human)
DOID:11111	hydronephrosis	ACE B3GLCT B4GAT1 CHST14 COG1 COG7 CPT2 CYP1A1 EBP G6PC3 GPC3 HPSE2 IDH2 MASP1 NAGLU NSDHL OGA PGAP2 PGAP3 PIGL PIGN PIGO PIGQ PIGV PIGW PIGY PLD1 PTGES PTGS2 TBXAS1 VNN1	10682 10724 11041 113189 1376 145173 1543 1636 23556 2719 27315 284098 3418 4669 50814 5337 55650 5648 5743 60495 6916 84720 84992 8876 9091 91949 92579 93210 9382 9487 9536	Homo sapiens (human)
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	ACADM ACSM3 AGPAT2 ALDH7A1 ARSB B3GALNT2 B3GAT3 B3GLCT B4GAT1 CHST14 CHST3 CNTN5 CNTN6 COG6 COG8 COMT CPT2 CRPPA DAG1 DHCR24 DHCR7 EBP EOGT EXT1 FBP1 FIG4 FKRP FKTN GALC GBA1 GLB1 GLDC GLUL GMPPB GPC3 GUSB HIBCH HSD17B4 IDS IDUA INPP5E L1CAM LARGE1 MBOAT7 MTM1 MYORG NANS NGLY1 NT5E NTNG1 OCRL OGDH PAFAH1B1 PDHA1 PIGN PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 POMGNT2 POMK POMT1 POMT2 PPARA PRNP PTDSS1 PTEN RXYLT1 SFTPA1 SFTPA2 SFTPC SFTPD SLC17A5 SLC39A8 SMC3 SUCLA2 SUMF1 TGDS TMTC3 UGCG	10329 10555 10585 10682 11041 113189 1312 1376 145173 148789 160418 1605 1717 1718 2131 2203 2218 22854 23483 23556 2581 26229 26275 2629 26503 2719 2720 27255 2731 2752 285203 285362 2990 29925 29954 3295 34 3423 3425 3897 411 4534 4907 4952 4967 501 5048 5160 5290 5291 5293 5294 53942 54187 5465 55624 55768 5621 56623 5728 57462 57511 6296 64116 6440 6441 653509 729238 729920 7357 79143 79147 84197 84342 84892 8803 9126 9215 9469 9791 9896	Homo sapiens (human)
DOID:4626	hydranencephaly	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:0060467	humeroradial synostosis	ALDH2 B3GAT3 B4GALT7 CHST3 COLEC10 COLEC11 EXT1 EXT2 HSPG2 MASP1 PIK3CA PRKAA2 PTDSS1 SMC3 UMOD XYLT1	10584 11285 2131 2132 217 26229 3339 5290 5563 5648 64131 7369 78989 9126 9469 9791	Homo sapiens (human)
DOID:526	human immunodeficiency virus infectious disease Aliases: HIV infection	ABO ACE ACOT8 ACSS2 ARSH B3GAT1 BST2 CACNA2D4 CD14 CD209 CD38 CDH13 CHI3L1 CLEC10A CLEC9A COLEC11 COMT CTSA CYP1A1 CYP27B1 CYP2B6 CYP3A4 CYP4F3 DEGS2 DGKI EFNA5 ENO1 FADS2 FCER2 FCGR3B FCN2 FREM1 FUCA1 FUT1 FUT2 G6PD GAD1 GALT GLB1 GLUL GPAT3 GPI GPX1 GPX3 HADHA HEXA HEXB HPGDS ICAM1 ICAM2 IDH1 IGF2R KLRB1 KLRC1 KLRD1 LEPR LGALS1 LGALS9 LIPA LSS LTA4H LYZ MACROD2 MAN1A1 MBL2 MICA MLYCD MRC1 NEIL1 OGG1 PARP1 PIK3CA PLA2G15 PLA2G2A PLA2G7 PLAUR PLCD3 PNPLA3 PRKAA2 PRNP PRSS21 PSAP PTEN PTGS1 PTGS2 RENBP SCD5 SDC1 SELE SELL SELP SFTPD SMUG1 SOAT1 STS TMED1 TNF UGT1A1 UNG VCAM1	10005 100507436 1012 10462 10942 11018 1116 113026 123099 1312 140733 142 1543 1555 1576 158326 1594 1636 1946 2023 2208 2215 2220 23417 23583 23659 2517 2523 2524 2539 2571 2592 27087 2720 27306 2752 28 2821 283420 2876 2878 3030 3073 3074 30835 3383 3384 3417 347527 3482 3820 3821 3824 3953 3956 3965 3988 4047 4048 4051 4069 412 4121 4153 4360 4968 5290 5320 5329 54658 5476 5563 55902 5621 5660 5728 5742 5743 5973 6382 6401 6402 6403 6441 6646 684 7124 7374 7412 78989 7941 79661 79966 80339 84803 9162 929 93589 9415 952	Homo sapiens (human)
DOID:9263	homocystinuria Aliases: CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency	ALDH7A1 CAT CYP7A1 MMUT PEMT SCD	10400 1581 4594 501 6319 847	Homo sapiens (human)
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	B3GALNT2 CAT COMT CYP2E1 FIG4 FKRP FKTN GAS1 GMPPB L1CAM LARGE1 LSS MOGS PGAP1 PIGN PLCH1 POMGNT1 POMT1 POMT2	10585 1312 148789 1571 2218 23007 23556 2619 29925 29954 3897 4047 55624 7841 79147 80055 847 9215 9896	Homo sapiens (human)
DOID:0110881	holoprosencephaly 1 Aliases: HPE1	B3GALNT2 CAT COMT CYP2E1 FIG4 FKRP FKTN GAS1 GMPPB L1CAM LARGE1 LSS MOGS PGAP1 PIGN POMGNT1 POMT1 POMT2	10585 1312 148789 1571 2218 23556 2619 29925 29954 3897 4047 55624 7841 79147 80055 847 9215 9896	Homo sapiens (human)
DOID:859	holocarboxylase synthetase deficiency Aliases: Biotin-(propionyl-CoA-carboxylase) ligase deficiency Multiple carboxylase deficiency - neonatal onset	PC	5091	Homo sapiens (human)
DOID:13214	hole retinal cyst Aliases: Macular cyst or hole Macular cyst, hole, or pseudohole of retina Macular pseudohole retinal cyst	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:1731	histoplasmosis	ABO ATP6V1A CAT CD14 CD209 CEL CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1056 1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:3405	histiocytosis Aliases: Hand Schuller Christian disease chronic Histiocytosis X	HPRT1 PPT2 PTGS1	3251 5742 9374	Homo sapiens (human)
DOID:4231	histiocytoma	KLRK1 MTAP	22914 4507	Homo sapiens (human)
DOID:474	histiocytoid hemangioma Aliases: Angiolymphoid hyperplasia with eosinophilia epithelioid haemangioma epithelioid 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:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	ABO ACACA ACACB ACAT1 ACE ACHE ACLY ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH6 AGK AGPS AGXT AKR1A1 AKR1B10 AKR1B1 AKR1C3 AKT2 ALDH1A3 ALDH3A1 ALDH7A1 ALG2 ALOX5 ALPI ALPP AMACR ANXA5 ANXA7 APRT ARF4 ARSA ART1 ASAH1 ATP6AP2 ATP6V0A2 ATRN B3GAT1 B4GALNT1 B4GALT5 BAAT BAD BCAN BDH1 BDH2 BRAF BST2 CACNA2D3 CALR CANX CAT CBR1 CD109 CD22 CD248 CD33 CD38 CD44 CD48 CD55 CD74 CD93 CDH13 CDS1 CEACAM5 CEACAM7 CERS1 CERS2 CH25H CHI3L1 CHKA CHPF CHPT1 CHST15 CHSY1 CHSY3 CLC CLEC18B CLEC5A CMAS CNTFR CNTN1 CNTN2 CNTN3 COL9A2 CPT1A CPT1C CS CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 CYP46A1 CYP4F3 DAG1 DBT DCN DCTD DEGS1 DGKA DGKI DGKZ DHCR24 DHDDS DLD DPEP1 EBP ECHS1 EFNA1 EFNA2 ELOVL2 ENO1 ENO2 ENOSF1 ENPP1 ENPP2 EXT1 FADS2 FASN FBP1 FBXO17 FCN2 FDFT1 FDPS FIG4 FKTN FMOD FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT14 GALNT2 GALNT7 GAPDH GAS1 GFPT1 GLB1 GLDC GLO1 GLUL GML GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 GPX3 HACD1 HAS2 HEXA HEXB HJV HK1 HK2 HMMR HPGDS HPSE HSD3B7 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IDUA IL18R1 IL1R1 IMPA1 INPP5K INPPL1 ISYNA1 ITPKA KHK KL KLRK1 L1CAM L2HGDH LAYN LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LPL LSS LYZ MAG MAN2A1 MBD4 MBL2 MCAT ME1 ME2 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NANS NCAM1 NDST1 NEU1 NEU3 NEU4 NT5E OCRL OLR1 OPCML OXCT1 PAFAH1B1 PARG PARP1 PARP3 PCYT1A PDIA3 PFKFB2 PFKFB3 PFKFB4 PFKM PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKD1 PKD2 PKM PLA2G10 PLA2G2A PLA2G4A PLA2G4C PLA2G5 PLAUR PLB1 PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PLPP1 PLPP3 PNLIP PNP PNPLA2 POMGNT1 PPT1 PRKAA2 PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 QPRT RECK RTN4R SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELP SEMA7A SGMS1 SGMS2 SGPL1 SHMT2 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC35F1 SLC37A4 SLC3A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 ST8SIA2 ST8SIA4 STS SUCLG1 SULF1 SULF2 SULT1E1 SYNJ1 TDG THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNF TNFRSF10C TNKS TP53 TPI1 TREH TUSC3 TYMP UGCG UGDH UGP2 UGT8 UNG VCAM1 VCAN VNN2 VTCN1 XYLT1	10039 100507436 1012 10135 10159 10232 10327 1040 10457 1048 10558 10559 10682 10715 10825 10855 10858 1087 1116 11181 1119 11332 115290 117145 1178 124 125 126 126129 127 1271 1272 1298 129807 130 135228 1374 142 1431 143903 1462 1464 148738 151056 1543 1545 1555 1559 1571 1573 1586 1588 1593 1594 1604 1605 1606 1629 1634 1635 1636 166929 1718 1738 1800 189 1890 1892 1942 1943 2023 2026 208 2131 218 2180 2181 2182 2194 220 2203 2218 2220 2222 2224 222553 2262 22856 22914 22918 22933 231 23205 23213 23236 2331 23443 23475 23545 23583 23600 23601 240 248 250 2526 2538 2539 2542 2571 2583 2590 259230 2597 2619 2673 27036 27087 27180 2720 27306 2731 27349 2739 2752 2765 28 2817 2819 2820 2821 2876 2878 2923 29956 3037 3073 3074 308 3098 3099 31 310 3161 32 3339 3340 3373 337876 3383 338328 3417 3418 3425 353 3554 3612 3636 3706 378 3795 38 3897 3939 3956 3958 3960 3964 3965 4023 4047 4051 4069 4099 410 412 4124 4153 417 4199 4200 4241 4245 4249 427 43 4350 4351 4360 4507 4594 4595 4684 47 4758 4860 4907 4952 497190 4973 4978 501 5019 5048 5067 50999 5130 51363 51477 51548 5167 5168 51703 51763 51809 5208 5209 5210 5213 5223 5230 5287 5289 5290 5291 5293 5294 5305 5310 5311 5315 5320 5321 5322 5329 5335 5337 5338 5406 54187 54898 5538 5552 55556 55624 5563 55750 55799 55902 55907 55959 5621 5631 5652 5660 56848 56898 56994 570 57016 57103 57104 57124 5716 572 5728 5730 5742 5743 622 6319 6382 63827 6383 6385 6389 6390 6391 6392 6403 64083 64131 6472 6480 6489 65078 6515 6518 6519 6609 6646 6715 673 6783 684 6900 6996 7086 7108 7124 7157 7167 730249 7357 7358 7360 7368 7374 7412 7903 79586 79623 79679 7991 79944 79947 80270 811 8128 81849 821 8277 8372 8399 8434 8455 847 84725 8482 8505 8525 85365 8540 8560 8605 8611 8613 8644 8658 8692 873 8794 8802 8809 8867 8875 8877 8879 8897 8930 8985 9023 9162 9200 933 9334 9365 9415 945 9514 952 9536 960 962 972 98 9896	Homo sapiens (human)
DOID:3896	hidradenoma Aliases: Hidradenoma of skin Sweat gland adenoma Syringoadenoma	AMACR CD44 CEACAM5 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	1048 10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:2282	hidradenitis Aliases: Hydradenitis	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1	1116 308 3417 3418 3420 3820 4051 6783 79993 8808	Homo sapiens (human)
DOID:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1 TNF	1116 308 3417 3418 3420 3820 4051 6783 7124 79993 8808	Homo sapiens (human)

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