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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 **6926 - 6950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:8504	impetigo	GALNS	2588	Homo sapiens (human)
DOID:0070186	Y-linked spermatogenic failure 1 Aliases: SPGFY1 Y-linked Sertoli cell-only syndrome type I Sertoli cell-only syndrome	ANXA5 CYP17A1 CYP2R1 EPHX2 HPGDS LCT LDHC PARP1 PGAM1 PRPS2 SRD5A2 SRGN STS TEX101	120227 142 1586 2053 27306 308 3938 3948 412 5223 5552 5634 6716 83639	Homo sapiens (human)
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	SLC25A13	10165	Homo sapiens (human)
DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda	ACAN CD38 CHST3 GLB1 HSPG2	176 2720 3339 9469 952	Homo sapiens (human)
DOID:10579	leukodystrophy	ABAT ACER3 ACOT12 ACOX1 ARSA ATRN DAG1 DEGS1 ECHS1 GALC GBE1 HSD17B4 MAG PC PDHA1 PLA2G1B PLA2G6 PLB1 PSAP SDHA SDHB SLC17A5 SORD TYMP	134526 151056 1605 18 1890 1892 2581 2632 26503 3295 4099 410 5091 51 5160 5319 55331 5660 6389 6390 6652 8398 8455 8560	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:0110498	autosomal recessive nonsyndromic deafness 4 Aliases: DFNB4 autosomal recessive deafness 4 with enlarged vestibular aqueduct	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP RENBP SMUG1 TECTA	135228 146183 220074 22856 23583 25839 340990 410 50 51 5660 5973 7007	Homo sapiens (human)
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	ACADL ACADM ACADSB ACADVL ACAT1 ACE ACSF3 AGL AKT2 ALDOB APRT BCKDHA BCKDHB CHAT CHGA CHPT1 COG7 COG8 CPT1A CPT1C CPT2 CRYL1 CYP21A2 CYP2C8 CYP2C9 DBT DHDDS DLD ENO1 ENO2 FBP1 G6PC1 GALT GCDH GCK GK GLA GPC3 GYS1 GYS2 H6PD HADH HADHA HK1 HMGCL HMGCS2 IDS KHK KL LGALS1 LPL MGAM MLYCD MPI PC PCCA PCCB PCK1 PCK2 PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PPP1R3A PRKAA2 PTEN PYGL SELP SGPL1 SI SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC35A2 SLC37A4 SLC3A1 SLC5A1 ST3GAL4 SUCLG1 TIGAR UGDH VCAM1	1103 1113 126129 1374 1376 1558 1559 1589 1629 1636 1738 178 197322 2023 2026 208 2203 229 23417 2538 2542 2592 2639 2645 2710 2717 2719 2997 2998 3030 3033 3098 3155 3158 33 34 3423 353 36 37 3795 38 3956 4023 4351 5091 5095 5096 5105 5106 51084 51548 5209 5236 5290 5291 5293 5294 5506 5563 56994 57103 5728 5836 593 594 6403 6476 6484 6514 6515 6517 6519 6523 7355 7358 7412 79947 84342 8802 8879 8972 91949 9365 9563	Homo sapiens (human)
DOID:0080016	spina bifida	ABO APEX1 ARSA CD38 CHKA COMT FOLR1 FOLR2 GPC5 HK1 ISYNA1 ITPK1 PCYT1A	1119 1312 2262 2348 2350 28 3098 328 3705 410 5130 51477 952	Homo sapiens (human)
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16 Aliases: Intellectual developmental disorder, autosomal recessive 62	PIGC	5279	Homo sapiens (human)
DOID:0050662	bestrophinopathy Aliases: autosomal recessive bestrophinopathy	ACE CAT SLC33A1	1636 847 9197	Homo sapiens (human)
DOID:2725	capillary hemangioma Aliases: Capillary haemangioma Congenital vascular hamartoma Congenital vascular naevus Infantile hemangioma Juvenile hemangioma Strawberry haemangioma Strawberry nevus Strawberry nevus of skin cellular hemangioma of Infancy	ACE ATP6AP2 ATP6V1A C1GALT1C1 CYP1B1 GNPTAB MAG MTM1 MTMR14 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDHC SDHD SRD5A3	10159 1545 1636 29071 4099 4534 523 5290 5291 5293 5294 5728 6391 6392 64419 79158 79644	Homo sapiens (human)
DOID:200	benign giant cell tumor	EFNA1 IDH1 MRC1	1942 3417 4360	Homo sapiens (human)
DOID:0050589	inflammatory bowel disease	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSL1 ACSS2 ADIPOQ AGA AKR1B10 ALDH5A1 ALDOB ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ARSF ASAH2 ATP6V0A2 B3GAT1 BCKDHA C1GALT1C1 CALR CAT CBR1 CD14 CD1D CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CERS2 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CPT1A CTBS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ELOVL7 ENO1 EPHX2 FADS1 FADS2 FASN FCER2 FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALC GALM GALNT2 GAPDH GGT1 GLB1 GP2 GPX1 GPX2 GUSB HADHA HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDUA IGF2 IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 L1CAM LACC1 LCT LGALS1 LGALS2 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 MCAT ME1 MGAT1 MGAT3 MGAT5 MGLL MICA MPG MRC1 MTMR3 MUTYH NAAA NAMPT NCAM1 NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PC PCYT1B PGAP3 PGD PGP PIGA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PNPLA3 PRKAA2 PRNP PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SFTPA1 SFTPD SGPP1 SGPP2 SLC2A3 SLC2A5 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 STS SUCLA2 SULT1E1 TBXAS1 TIGAR TKT TNF TNFRSF10C TUSC3 UGT1A1 UGT1A7 ULBP1 UST VCAM1 VCAN VNN1 YDJC	100507436 10090 1012 10135 10462 1048 10559 10715 10747 10855 1087 1113 1116 11343 130367 130589 1374 140733 142 144811 1462 1486 150223 151056 1543 1555 1557 1559 1571 1573 1576 1577 1588 1589 1594 160364 1604 1605 1636 1738 175 1800 1946 2023 2053 2180 2194 2208 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 240 248 250 2524 2525 2526 253430 2581 2590 2597 2678 27087 27163 2720 27306 27349 275 276 277 278 28 2813 283871 2876 2877 29071 2990 29956 3030 30835 31 3161 3251 3290 3291 3383 3384 3417 3418 3425 3481 3554 3635 38 3897 39 3938 3956 3957 3958 3960 3965 3992 4023 4048 4051 4069 410 412 4153 416 4199 4245 4248 4249 43 4350 4360 4595 4680 4684 4758 4907 4968 50 5048 5091 51363 51477 5226 5277 5289 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 5563 55808 55902 5621 5660 56624 56994 57016 57103 5716 5728 5730 5742 5743 593 5968 6382 6401 6402 64090 64116 6441 64581 6515 6518 653509 6609 6646 6783 6916 7086 7124 7412 7915 7941 7991 79947 79993 80329 80339 80896 811 81537 8398 8399 847 8529 8547 8692 873 8794 8803 8807 8808 8809 8876 8877 8897 912 9173 91869 92579 929 93210 9370 9415 9420 9435 945 9468 9514 952 9536 960 9663 972	Homo sapiens (human)
DOID:10824	malignant hypertension	ACE CYP17A1 CYP1A1 SLC33A1	1543 1586 1636 9197	Homo sapiens (human)
DOID:0060605	obsolete anterior segment mesenchymal dysgenesis	CYP1B1	1545	Homo sapiens (human)
DOID:11320	Kyasanur forest disease	ICAM1 SELE VCAM1	3383 6401 7412	Homo sapiens (human)
DOID:0080626	corticosterone methyloxidase deficiency 1 Aliases: aldosterone synthase deficiency	CYP11B2	1585	Homo sapiens (human)
DOID:2364	post-thrombotic syndrome Aliases: Postphlebetic syndrome with inflammation Postphlebetic syndrome with ulcer Postphlebetic syndrome with ulcer and inflammation postphlebitic syndrome venous stress disorder	ABO	28	Homo sapiens (human)
DOID:3901	vulvitis	ABO CTNS GALNS GLA LYZ MBL2	1497 2588 2717 28 4069 4153	Homo sapiens (human)
DOID:310	MERRF syndrome Aliases: Fukuhara syndrome Myoclonic epilepsy - ragged red fibers Myoclonus epilepsy AND ragged red fibers Myoclonus with epilepsy and with Ragged Red Fibers	CLN5 EPM2A	1203 7957	Homo sapiens (human)
DOID:7519	endocervical carcinoma Aliases: carcinoma of endocervix carcinoma of the Endocervix	PTGS2	5743	Homo sapiens (human)
DOID:84	osteochondritis dissecans Aliases: OCD	ACAN COL9A2 COMT TPI1	1298 1312 176 7167	Homo sapiens (human)
DOID:11219	conjunctival folliculosis Aliases: acute follicular conjunctivitis	PLD3	23646	Homo sapiens (human)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3GALT6	126792	Homo sapiens (human)

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