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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5226 - 5250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:707	B-cell lymphoma Aliases: B-cell lymphocytic neoplasm	ACAA1 ACACA ACACB ACE ACHE ACSBG1 ACSF3 AKR1A1 AKR1C1 AKR1C3 ALG1 ALPP AMACR ANXA5 APRT ATRNL1 CAT CD14 CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CDS1 CEACAM5 CEL CFC1 CHI3L1 CLEC10A CNTN2 COMT CS CSPG4 CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 EPHX2 FASN FBP1 FCER2 FCGR3B FCN2 FH FMOD FUT1 G6PD GAPDH GBA1 GBE1 GFRA1 GGT1 GLB1 GLDC GPX1 H6PD HACD1 HK2 HPGDS HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RAPL1 INPP5D ITPKB KDSR KL KLRK1 LDHA LGALS1 LGALS3 LY6G6D LYPD5 MASP2 MCAT MRC1 MTAP NAMPT NCAM1 NTHL1 OGG1 PAFAH1B1 PARP1 PARP9 PC PDHX PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PRKAA2 PSMD10 PTEN PTGS2 SDC1 SELE SELL SHMT1 SHMT2 SIGLEC10 SIRT4 SLC27A5 SLC2A2 SLC2A3 SLC2A4 SLC35B2 SMUG1 SOAT1 SPHK1 STS TMEM260 VCAM1 VNN1 VTCN1	1012 10135 10327 1040 10462 1048 1056 10747 10998 11141 1116 1312 142 1431 1464 1543 1545 1555 1559 1571 1586 1591 1594 1604 1636 1645 197322 200576 2053 2194 2203 2208 2215 2220 2271 22914 23205 2331 23409 23583 23600 250 2523 2531 2539 2597 26033 2629 2632 2674 2678 2720 27306 2731 27349 284348 2876 30 308 3099 31 32 3383 3417 3418 347734 353 3554 3635 3707 3939 3956 3958 412 43 4360 4507 4684 4913 4968 5048 5091 5290 5291 5293 5294 5315 54916 5563 55997 56052 5716 5728 5743 58530 6382 6401 6402 6470 6472 6514 6515 6517 6646 6900 7412 79679 8050 83666 847 8644 8692 8876 8877 89790 9200 929 933 9365 945 952 9563 960 972	Homo sapiens (human)
DOID:1148	polydactyly Aliases: postaxial polydactyly	ACHE DHCR7 EBP GPC3 HADHB INPP5E PIGX PIK3CA PNPLA6 PTEN SC5D UMOD	10682 10908 1717 2719 3032 43 5290 54965 56623 5728 6309 7369	Homo sapiens (human)
DOID:2174	ocular cancer Aliases: Ocular tumor eye neoplasm malignant eye neoplasm neoplasm of eye neoplasm of eye proper	FASN LIPG	2194 9388	Homo sapiens (human)
DOID:8886	chorioretinitis Aliases: retinochoroiditis	ACE ICAM1	1636 3383	Homo sapiens (human)
DOID:4810	cerebrotendinous xanthomatosis Aliases: Cholestanol storage disease	B4GALNT2 CYP27A1 CYP27B1 CYP2B6 CYP3A4 HSD11B1 HSD11B2 PTGDS	124872 1555 1576 1593 1594 3290 3291 5730	Homo sapiens (human)
DOID:3241	lipid pneumonia Aliases: Exogenous lipoid pneumonia Lipoid pneumonitis	SMUG1	23583	Homo sapiens (human)
DOID:6658	pulmonary large cell neuroendocrine carcinoma	CHGA ENO2 ENO3 IDH2 KL NCAM1 PGK1 SDHD	1113 2026 2027 3418 4684 5230 6392 9365	Homo sapiens (human)
DOID:7165	subacute thyroiditis Aliases: De Quervain's thyroiditis Giant-cell thyroiditis Granulomatous thyroiditis Subacute Granulomatous Thyroiditis	GUSB SMUG1	23583 2990	Homo sapiens (human)
DOID:0060536	mitochondrial complex I deficiency Aliases: isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency	SLC25A10	1468	Homo sapiens (human)
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	CD14 FCER2 FCGR3B GLA NT5E PIK3CA PIK3CB PIK3CD PIK3CG	2208 2215 2717 4907 5290 5291 5293 5294 929	Homo sapiens (human)
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	EXT1 GNPTAB INPP5K NAGLU SLC2A10	2131 4669 51763 79158 81031	Homo sapiens (human)
DOID:0050175	tick-borne encephalitis Aliases: Central European encephalitis Far Eastern TBE Russian spring-summer encephalitis Siberian tick-borne encephalitis Taiga encephalitis Western European tick-borne encephalitis west-Siberian encephalitis	CD209 CD48 ENO2 STS	2026 30835 412 962	Homo sapiens (human)
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ALDH6A1 GCSH GLUL HMGCL PCCA PCCB	2653 2752 3155 4329 5095 5096	Homo sapiens (human)
DOID:0060417	3p deletion syndrome Aliases: chromosome 3pter-P25 deletion syndrome distal monosomy 3p	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:14183	alcoholic neuropathy Aliases: Alcohol-related polyneuropathy Alcoholic polyneuropathy	ADH1B ALDH2 IGF2	125 217 3481	Homo sapiens (human)
DOID:0080144	childhood acute lymphocytic leukemia Aliases: Childhood Acute Lymphoblastic Leukemia	ABO ACACA ACSS2 AKR1B1 AKR1C3 ALPI ALPP ANXA5 APRT B3GAT1 CALR CAT CD14 CD22 CD33 CD38 CD44 CD48 CD55 CD72 CEACAM6 CEL CERS6 CHI3L1 CNTFR CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C8 CYP2E1 CYP3A4 CYP3A5 CYP4F3 ENO2 EXT1 FADS1 FH FUT4 G6PD GAD1 GCNT2 GGT1 HK1 HPGDS HPRT1 HSD11B2 ICAM1 IDH1 IDH2 IGF2R IL18R1 IL1RL1 LIPA LSS MAN2A1 MTAP MUTYH NAAA NAMPT NCAM1 NT5E OGG1 PARP1 PARP9 PFKFB2 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G15 PNP PRKAA2 PRPS1 PTEN PTGES3 PTGS2 SELE SFTPD SHMT1 SLC27A5 SOAT1 SPHK2 SRD5A2 UGT1A6 UMOD UNG	10135 1056 10728 10998 1116 1271 142 1543 1544 1545 1555 1558 1571 1576 1577 1604 2026 2131 2271 231 23659 248 250 2526 253782 2539 2571 2651 2678 27087 27163 27306 28 308 3098 31 3251 3291 3383 3417 3418 3482 353 3988 3992 4047 4051 4124 4507 4595 4680 4684 4860 4907 4968 5208 5290 5291 5293 5294 5305 54578 5563 55902 5631 56848 5728 5743 6401 6441 6470 6646 6716 7369 7374 811 83666 847 8644 8809 9173 929 933 945 952 960 962 971	Homo sapiens (human)
DOID:14456	Brucella melitensis brucellosis	APRT CD14 MICA OXSM	100507436 353 54995 929	Homo sapiens (human)
DOID:8577	ulcerative colitis Aliases: Left-sided ulcerative colitis	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSM3 ACSS2 ADIPOQ AGA AKR1B10 ALDH5A1 ALDOB ALOX12 ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ATP6V0A2 B3GAT1 BCKDHA CAT CBR1 CD14 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CTBS CYP19A1 CYP1A1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ENO1 ENPP2 EPHX2 FADS1 FADS2 FASN FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALM GALNT2 GAPDH GLB1 GP2 GPX1 GPX2 GUSB HMMR HPGDS HPSE HSD11B2 ICAM1 ICAM2 IDH1 IDUA IGF2 IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 LACC1 LCT LGALS1 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 ME1 MGAT5 MGLL MICA MPG MTMR3 MUTYH NAAA NAMPT NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PCYT1B PGAP3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PTEN PTGDS PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SELP SFTPD SGPP2 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 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 140733 142 144811 1462 1486 150223 151056 1543 1555 1557 1559 1571 1573 1576 1577 1588 1589 1591 1594 160364 1604 1605 1636 1738 175 1800 1946 2023 2053 2194 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 239 240 248 250 2524 2525 2526 253430 2590 2597 27087 27163 2720 27306 275 276 277 278 28 2813 2876 2877 2990 30835 31 3161 3291 3383 3384 3417 3425 3481 3554 3635 38 39 3938 3956 3958 3960 3965 3992 4023 4048 4051 4069 410 4153 4199 4249 43 4350 4595 4680 4758 4907 4968 50 5048 51363 51477 5168 5226 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 55808 55902 56994 57016 57103 5728 5730 5742 5743 593 5968 6296 6382 6401 6402 6403 64090 64116 6441 64581 6609 6646 6783 6916 7086 7124 7412 7915 7941 7991 79947 80329 80896 8398 8399 847 8529 8547 873 8794 8803 8807 8808 8809 8876 8877 8897 9173 91869 92579 929 93210 9370 9415 9420 9435 945 9468 9514 952 960 9663 972	Homo sapiens (human)
DOID:8738	leukoplakia of penis Aliases: Kraurosis of penis Penile Leukoplakia	INPP5E	56623	Homo sapiens (human)
DOID:0111054	von Willebrand's disease 3 Aliases: VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III	BAAT SACM1L SELP	22908 570 6403	Homo sapiens (human)
DOID:0070328	adult hepatocellular carcinoma Aliases: adult hepatoma adult primary hepatocellular carcinoma	ABO ACAT1 ADH1C APRT CYP2B6 ENPP2 G6PD GPC3 HPSE LDHA OGG1 PIK3CA PNPLA3 PTGS2 ST6GAL1 SULF1 TNKS UGT1A7 UGT1A9 VCAM1	10855 126 1555 23213 2539 2719 28 353 38 3939 4968 5168 5290 54577 54600 5743 6480 7412 80339 8658	Homo sapiens (human)
DOID:0110281	autosomal recessive limb-girdle muscular dystrophy type 2G Aliases: LGMD2G limb-girdle muscular dystrophy due to telethonin deficiency muscular dystrophy, limb-girdle, type 2G	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:10646	schizotypal personality disorder	COMT	1312	Homo sapiens (human)
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	GYS2 INPP5B INPP5E SYNJ1 SYNJ2	2998 3633 56623 8867 8871	Homo sapiens (human)
DOID:6126	anal canal carcinoma Aliases: anal canal and Perianal gland carcinoma	SMUG1	23583	Homo sapiens (human)

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