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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 **2076 - 2100** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SGPL1 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 55613 5621 5631 5743 821 84649 847 8776 8879 8897 8898 9107 9108 9110 9517 960 9896	Homo sapiens (human)
DOID:106	pleural tuberculosis Aliases: Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis	BST1 HSD11B1 TLR4 VTCN1	3290 683 7099 79679	Homo sapiens (human)
DOID:1060	Hartnup disease Aliases: Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect	IDUA	3425	Homo sapiens (human)
DOID:10600	chronic tic disorder Aliases: chronic motor or vocal tic disorder	CD44 ENO2	2026 960	Homo sapiens (human)
DOID:10602	obsolete steatorrhea	ACOX2 BAAT CYP7B1 HSD3B7 LIPA PNLIP	3988 5406 570 80270 8309 9420	Homo sapiens (human)
DOID:10603	glucose intolerance Aliases: Glucose malabsorption Malabsorption of glucose	ABO ACE ACOT7 ADH1C ALDH2 AMY2A APRT CAT CBR1 CD14 CERS6 CHI3L1 CLEC16A COMT COQ2 CYB5R4 CYP19A1 CYP1B1 DCN DDOST DGAT1 ENPP1 FCGR3B G6PC1 G6PC2 G6PD GAD1 GAD2 GBA1 GCK GGT1 HK2 HSD11B1 HSD11B2 ICAM1 IL1R1 INPPL1 L1CAM LEP LEPR LGALS3 LIPC LPIN1 LPL MBL2 MOGAT2 NAMPT NEIL1 NEU1 OGA OLR1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLB1 PLCB1 PNPLA2 PNPLA3 PPP1R3A PRKAA2 PTGES2 RTN4R SCD SGPL1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC5A1 SOAT1 SRGN UMOD VCAM1	10135 10559 10724 1116 11332 126 1312 151056 1545 1588 1634 1636 1650 217 2215 22933 23175 23236 23274 253782 2538 2539 2571 2572 2629 2645 26503 2678 27235 279 28 283871 3099 3290 3291 3383 353 3554 3636 3897 3952 3953 3958 3990 4023 4153 4758 4973 51167 51548 5167 5290 5291 5293 5294 5315 5506 5552 5563 57104 57818 6319 6476 65078 6514 6515 6517 6523 6646 7369 7412 79661 80142 80168 80339 847 8694 873 8879 929	Homo sapiens (human)
DOID:10604	lactose intolerance Aliases: LM - Lactose malabsorption	FUT2 GLB1 LCT PGM3 SI	2524 2720 3938 5238 6476	Homo sapiens (human)
DOID:10605	short bowel syndrome Aliases: acquired short bowel syndrome short gut syndrome	LEP LEPR	3952 3953	Homo sapiens (human)
DOID:10606	blind loop syndrome Aliases: Bacterial overgrowth syndrome	CHI3L1 ICAM1 PLA2G7	1116 3383 7941	Homo sapiens (human)
DOID:10607	tropical sprue Aliases: Sprue - tropical Tropical steatorrhea	ACE AGA AKR1D1 CD55 CYP27A1 DGAT1 ENPP1 HSD3B7 LCT LPIN2 MGLL MMUT MPI OCRL PIK3CA PNLIP SI SLC2A2 SLC2A5 SLC5A1 TYMP	11343 1593 1604 1636 175 1890 3938 4351 4594 4952 5167 5290 5406 6476 6514 6518 6523 6718 80270 8694 9663	Homo sapiens (human)
DOID:10608	celiac disease Aliases: celiac sprue coeliac disease idiopathic steatorrhea	ACACA ACE ACSL5 AGA ALG3 ASAH2 B3GAT1 BCKDHB CD14 CD1D CD209 CD38 CD44 CD48 CLC CLEC10A CLEC16A DAG1 DGAT1 FUT2 FUT4 GAD1 GAD2 GBGT1 GLB1 HPGDS ICAM1 IL18R1 IL18RAP ISYNA1 KLRK1 L1CAM LCT LGALS1 LPL LYZ MBL2 MICA MPI NCAM1 NT5E PARP1 PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PNPLA2 PNPLA3 PTEN SDC1 SELE SELL SOAT2 UGT1A4 VNN1 VTCN1 YDJC	100507436 10195 10462 1178 142 150223 1605 1636 175 22914 23274 2524 2526 2571 2572 26301 27087 2720 27306 30835 31 3383 3897 3938 3956 4023 4069 4153 4351 4684 4907 5105 51477 51703 5290 5291 5293 5294 5321 54657 56624 57104 5728 594 6382 6401 6402 79679 80339 8435 8694 8807 8809 8876 912 929 952 960 962	Homo sapiens (human)
DOID:10609	rickets Aliases: active rickets	ACE ALPL APRT BAAT CEACAM5 CEACAM7 CTNS CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 CYP7A1 DHCR7 EHHADH ENPP1 GALC GGT1 HSD11B2 HSD3B7 KL L1CAM MCAT OCRL PHOSPHO1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 RGN SCD SFTPA1 SLC17A5 SLC2A2 TALDO1	1048 1087 120227 1497 1576 1581 1591 1593 1594 162466 1636 1717 1962 249 2581 26503 2678 27349 3291 353 3897 4952 5167 5290 5291 5293 5294 570 5743 6319 6514 653509 6888 80270 9104 9365	Homo sapiens (human)
DOID:10611	protein-losing enteropathy Aliases: Enteropathy, exudative Exudative enteropathy	ALG8 CD55 COG8 DGAT1 MPI PIK3C2A PTEN	1604 4351 5286 5728 79053 84342 8694	Homo sapiens (human)
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	AGPAT2 CTNS CYP51A1 EHHADH GPX3 IGF2R NAGLU OCRL SLC2A2 SLC5A1 VNN1 VNN2	10555 1497 1595 1962 2878 3482 4669 4952 6514 6523 8875 8876	Homo sapiens (human)
DOID:10629	microphthalmia Aliases: microphthalmos simple microphthalmos	ABO ACE ACYP2 AKR1B10 ALDH1A3 ALDH6A1 ALDH7A1 APRT ARSA ARSD ARSH B3GALNT2 B4GAT1 C1GALT1 C1GALT1C1 CALR CD177 CD38 CD44 CEACAM5 CEACAM7 CEL CEMIP CERK CHKA CHST15 COMT CRPPA CYP1B1 CYP3A5 DAG1 DPEP1 DSEL EBP ENO1 EOGT FASN FBP1 FCGR3B FCN2 FDPS FH FKRP FKTN FREM1 FUT3 FUT4 GAD1 GALNT3 GAPDH GLUL GMPPB GOLPH3 GP2 GPC1 GPC5 GPI GPNMB GPX1 HAS2 HK1 HK2 HMMR HYAL2 IDH1 INPP5D KL L1CAM LARGE1 LDHB LGALS1 LGALS3 LGALS4 LPCAT2 LRP5 MCAT MDH1 ME2 MLYCD MMUT MRC1 MSLN NDST1 NEU1 NT5E OCRL OGA OGT PAFAH1B2 PARG PARP1 PDHX PGAM1 PGD PGK1 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR PLCD1 PLCD3 PLD1 PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRNP PTEN PTGS2 REG1B REG3G RXYLT1 SDC1 SDC2 SIGLEC7 SIRT6 SLC17A5 SLC35F6 SMUG1 SOAT1 SQLE SRD5A3 ST6GAL1 VCAM1 VCAN VTCN1 XYLT2	10232 10329 10457 1048 1056 10585 10682 10724 1087 11041 1119 113026 130120 1312 142 1462 148789 1545 1577 158326 1605 1636 1800 2023 2194 220 2203 2215 2218 2220 2224 2262 2271 23417 23556 23583 2525 2526 2571 2591 2597 26503 27036 27349 2752 28 2813 2817 2821 285203 2876 29071 29925 29954 3037 3098 3099 3161 3340 3417 347527 353 3635 3897 3945 3956 3958 3960 4041 410 414 4190 4200 4329 4360 4594 4758 4907 4952 501 5049 51363 51548 5223 5226 5230 5290 5291 5293 5294 5315 5329 5333 5337 54947 54978 55624 5621 56913 57016 57104 57126 57214 5728 5743 5968 6382 6383 64083 64132 64781 6480 6646 6713 729920 7412 79147 79644 79679 8050 811 84197 8473 84892 8505 8692 92126 9215 9365 952 960 98	Homo sapiens (human)
DOID:1063	interstitial nephritis Aliases: renal tubulo-interstitial disease	ACE APRT CAT CYP2C9 DCN DHCR7 DPEP1 GLA HSPG2 IL18R1 MMUT PLA2R1 REG3G SDC1 SDC2 SFTPA1 SFTPA2 SFTPD SLC3A1 TM7SF2 UMOD	130120 1559 1634 1636 1717 1800 22925 2717 3339 353 4594 6382 6383 6441 6519 653509 7108 729238 7369 847 8809	Homo sapiens (human)
DOID:10632	Wolfram syndrome Aliases: WFS	COMT	1312	Homo sapiens (human)
DOID:1064	cystinosis Aliases: cystine storage disease	AGPAT2 APRT CTNS CYP51A1 EHHADH GPX3 LGALS3 NAGLU OCRL PRKAA2 SLC2A2 SLC5A1 VNN1 VNN2	10555 1497 1595 1962 2878 353 3958 4669 4952 5563 6514 6523 8875 8876	Homo sapiens (human)
DOID:10646	schizotypal personality disorder	COMT	1312	Homo sapiens (human)
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	ABAT ABO ACACA ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 ADIPOQ ADRB3 AGPS AGRN AKR1A1 AKR1B1 AKR1C2 AKR1C4 AKR7A2 ALDH2 ALDH7A1 ALG3 ALOX12 ALOX15 ALOX5 ALPI ALPP ANXA5 APOD APRT ARSA ASAH1 ASAH2 ATRNL1 B3GALT4 B3GAT1 BAD BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CFC1 CH25H CHAT CHI3L1 CHIT1 CHPT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP51A1 CYP7B1 CYP8B1 DAG1 DCN DEGS1 DGKQ DHCR24 DHDDS DHRS11 DLD DLST DPEP2 EBP EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 EPM2A EXT1 EXT2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GCG GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GSK3B GSTO1 GSTO2 GTDC1 GUSB H6PD HADHA HADHB HAS1 HAS3 HK1 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B3 HSD17B4 HSD17B6 HSD17B7 HSD3B2 HSPG2 HTR2A HYI ICAM1 IDH1 IDH2 IDUA IGF2 IGF2R IL1R1 IL1RAP IL1RL1 IL6ST IMPA1 INPP5D INPP5K INPPL1 INS IPMK IRS2 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LEP LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MAPK14 MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAGLU NAMPT NANS NCAM1 NDUFAB1 NEIL1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCD1 PLCE1 PLCG1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPARA PPARGC1A PPP1R3A PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SDHB SELE SELL SELP SFTPA1 SFTPC SGMS2 SGPL1 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A1 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SORD SPHK1 SPHK2 SPTLC1 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SULT1E1 SYNJ1 TGDS TIGAR TKT TLR4 TM7SF2 TMED9 TNF TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10195 10327 10400 10457 10466 1048 10558 10559 10682 10715 10724 10728 10855 10858 1087 10891 1103 1109 1116 1118 11332 11343 1178 119391 1203 1272 130749 1312 131375 132789 1374 142 1431 1432 1462 1464 1497 151056 1544 155 1555 1559 1573 1576 1582 1583 1586 1588 1593 1595 1604 1605 1609 1634 1636 1646 166929 1718 1738 1743 18 1946 196051 200576 2023 2026 2053 2131 2132 217 2194 2215 2220 2224 22933 231 23127 23236 23274 23305 23483 2350 23583 23646 23659 239 240 246 248 250 253430 2539 2571 2572 2588 2597 26033 26232 2629 26330 2641 26503 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2932 2990 3030 3032 3036 3038 308 30835 3098 31 3158 3251 3284 3290 3292 3293 3295 3339 3356 3383 3417 3418 3425 346606 347 3481 3482 353 3554 3556 3572 3612 3630 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3952 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4669 4680 4684 4706 4758 48 4860 4907 4967 4968 4973 50 501 5048 5049 5091 5105 51084 51196 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5310 5315 5319 5320 5321 5329 5333 5335 5336 5337 5338 5373 54187 5465 54658 54732 5506 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56624 56848 56994 57103 57104 57126 572 5728 5730 5742 5743 5973 60495 6319 6342 63827 6383 6390 6401 6402 6403 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6513 6515 6517 653509 6609 6610 6646 6652 6713 6783 683 6900 7086 7099 7108 7124 7167 7355 7357 7369 7374 7412 79154 7941 7957 79661 79712 79947 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8574 8630 8660 8705 8733 8801 8803 8867 8877 8879 9023 9104 9173 9197 929 9365 9370 9388 9420 9446 945 9468 952 9536 9563 960 9672 972 9791 9957	Homo sapiens (human)
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	ABO ACE AKR1B1 ALDH7A1 CD38 CYP1B1 DGKD GMDS GPNMB PLCE1 PMM2 PTGDS PTGS2 TNF	10457 1545 1636 231 2762 28 501 51196 5373 5730 5743 7124 8527 952	Homo sapiens (human)
DOID:1068	juvenile glaucoma Aliases: Glaucoma of childhood	ARSD B3GAT3 CHST3 CYP1B1 FUT8	1545 2530 26229 414 9469	Homo sapiens (human)
DOID:10686	lactocele Aliases: Galactocele	CYP11A1 CYP17A1 HSD17B1 PTEN PTGES	1583 1586 3292 5728 9536	Homo sapiens (human)
DOID:10688	hypertrophy of breast Aliases: breasts enlarged large breast	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5728 6390 6391 6392 9394	Homo sapiens (human)
DOID:10690	mastitis Aliases: Inflammatory breast disease Inflammatory disease of breast breast inflammation	ABO AMACR B4GALT1 CD14 CRLS1 CYP1A1 CYP24A1 CYP2R1 DGAT1 GALNS LPL LYZ PLA2G1B PLB1 SCD SFTPA1 SLC26A2 TLR4	120227 151056 1543 1591 1836 23600 2588 2683 28 4023 4069 5319 54675 6319 653509 7099 8694 929	Homo sapiens (human)

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