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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 **4576 - 4600** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
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:526	human immunodeficiency virus infectious disease Aliases: HIV infection	Lepr Tnf	24536 24835	Rattus norvegicus (Norway rat)
DOID:526	human immunodeficiency virus infectious disease Aliases: HIV infection	Lepr Tnf	16847 21926	Mus musculus (house mouse)
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: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: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: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:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	pomk	492773	Danio rerio (zebrafish)
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	Hmgb1 Pomk Ppara	15289 19013 74653	Mus musculus (house mouse)
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	Hmgb1 Pomk Ppara	25459 25747 306549	Rattus norvegicus (Norway rat)
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: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: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:0080596	hyper IgE recurrent infection syndrome 4	Il6st	16195	Mus musculus (house mouse)
DOID:0080596	hyper IgE recurrent infection syndrome 4	IL6ST	3572	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:0111369	hyperalphalipoproteinemia 1 Aliases: HALP1	GALNT2 LCAT LIPC LIPG LPL	2590 3931 3990 4023 9388	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:11613	hyperandrogenism Aliases: hyperandrogenization syndrome	Il6st	16195	Mus musculus (house mouse)
DOID:9278	hyperargininemia Aliases: Arginase deficiency argininemia deficiency of canavanase	ARSD	414	Homo sapiens (human)
DOID:12678	hypercalcemia	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)
DOID:12733	hypercementosis Aliases: Cementation hyperplasia	ENPP1	5167	Homo sapiens (human)
DOID:0060696	hyperekplexia 1 Aliases: HKPX1	PRNP	5621	Homo sapiens (human)
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	PRNP	5621	Homo sapiens (human)
DOID:0060698	hyperekplexia 3 Aliases: HKPX3	PRNP	5621	Homo sapiens (human)

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