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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 **3026 - 3050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:12259	hemophilia B Aliases: Congenital factor IX deficiency Congenital factor IX disorder deficiency, functional factor IX factor IX deficiency	AMT CD38 DCXR EBP G6PD GAD1 SACM1L SMUG1	10682 22908 23583 2539 2571 275 51181 952	Homo sapiens (human)
DOID:0110388	retinitis pigmentosa 10 Aliases: RP10	PGK1	5230	Homo sapiens (human)
DOID:0110817	hereditary spastic paraplegia 72A Aliases: SPG72 autosomal spastic paraplegia type 72	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:12934	Kearns-Sayre syndrome	MAG SGSH	4099 6448	Homo sapiens (human)
DOID:2889	retrocochlear disease	SUCLA2	8803	Homo sapiens (human)
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	ABO ACE ALDH2 ALG9 ARSD B3GAT3 CFC1 COG7 DGCR2 EBP ENO1 ENO2 FKRP G6PC3 GALNT1 GCK GPX3 HAS2 HPGDS HYAL2 IDUA LGALS3 NTM OPCML PIGV PIK3CA PIK3CB PIK3CD PKD1 PKD2 PLCB2 PTEN PTGS2 RTN4RL1 SC5D SELP SFTPA1 SFTPA2 SHMT1 SLC2A3 SMUG1 TNFRSF10C WDR5	10682 11091 146760 1636 2023 2026 217 23583 2589 26229 2645 27306 28 2878 3037 3425 3958 414 4978 50863 5290 5291 5293 5310 5311 5330 55650 55997 5728 5743 6309 6403 6470 6515 653509 729238 79147 79796 8692 8794 91949 92579 9993	Homo sapiens (human)
DOID:8110	periampullary adenocarcinoma	MRC1 MTAP	4360 4507	Homo sapiens (human)
DOID:0060312	angular cheilitis Aliases: angular cheilosis angular stomatitis cheilosis commissural cheilitis	CLEC7A OCRL	4952 64581	Homo sapiens (human)
DOID:11716	prediabetes syndrome Aliases: Prediabetes impaired glucose tolerance prediabetic state	ABO ACE ACOT7 ADH1C ALDH2 AMY2A APRT CAT CBR1 CD14 CERS6 CHI3L1 CLEC16A COMT CYB5R4 CYP19A1 CYP1B1 DCN DDOST DGAT1 ENPP1 FCGR3B G6PC1 G6PC2 G6PD GAD1 GAD2 GBA1 GCG GCK GGT1 HK2 HSD11B1 HSD11B2 ICAM1 IL1R1 INPPL1 KCNJ11 L1CAM LGALS3 LIPC LPIN1 LPL MBL2 MOGAT2 NAMPT NEIL1 NEU1 OGA OLR1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLB1 PLCB1 PNPLA2 PNPLA3 PPARGC1A PPP1R3A PRKAA2 PTGES2 RTN4R SCD SGPL1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC5A1 SOAT1 SRGN UMOD VCAM1	10135 10559 10724 10891 1116 11332 126 1312 151056 1545 1588 1634 1636 1650 217 2215 22933 23175 23236 23274 253782 2538 2539 2571 2572 2629 2641 2645 26503 2678 279 28 283871 3099 3290 3291 3383 353 3554 3636 3767 3897 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:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	B3GLCT COLEC10 COLEC11 FKRP FKTN GAD1 GPC3 LARGE1 MASP1 MTMR3 NSDHL POMT1 POMT2 SDC2 TGDS TNKS2 TNKS	10584 10585 145173 2218 23483 2571 2719 29954 50814 5648 6383 78989 79147 80351 8658 8897 9215	Homo sapiens (human)
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:891	progressive myoclonus epilepsy Aliases: PME progressive myoclonic epilepsy	ARSA ASAH1 CERS1 EPM2A GAPDH GBA1 NAGLU NEU1 PFKL PRNP TMED9	10715 2597 2629 410 427 4669 4758 5211 54732 5621 7957	Homo sapiens (human)
DOID:12450	pancytopenia	ADH5 ALDH2 CALR CD1D CD48 COG6 CPT2 DGKZ FUT1 G6PC3 G6PD GBA1 GLB1 GPI IDS KLRK1 LIPA MMUT PCCA PCCB PGM3 PTEN PTGDS SLC17A5 TALDO1 TBXAS1 VCAM1	128 1376 217 22914 2523 2539 2629 26503 2720 2821 3423 3988 4594 5095 5096 5238 5728 5730 57511 6888 6916 7412 811 8525 912 92579 962	Homo sapiens (human)
DOID:409	liver disease Aliases: disorder of liver hepatic disorder	ACACA ACADM ACADVL ACE ACHE ACOT7 ADH1A ADH1B ADH1C AKR1A1 AKR1B10 AKR1C1 AKR1D1 ALDH1B1 ALDH2 ALPP AMACR ARSH ASAH2 ATP6AP1 ATP6AP2 ATRNL1 CCDC115 CD14 CD1D CD209 CEACAM5 CEACAM7 CFC1 CHI3L1 CLEC1B COMT CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP4F3 CYP51A1 CYP7A1 CYP7B1 DLAT EHHADH ENO3 ENPP2 EXT1 FUT1 FUT2 G6PC1 GALT GANAB GBE1 GGT1 GLO1 GLUL GOLPH3 GP2 GPC3 GUSB H6PD HADH HADHA HAS1 HAS3 HK3 HMGCS2 HPGDS HSD11B1 HSD17B6 HSD3B7 ICAM1 IGF2R IL1RAP IMPA1 ISYNA1 KDSR KLRK1 LCAT LGALS3 LGALS9 LIPA LYZ MAN1B1 MASP1 MBL2 MBOAT7 MICA MPI MTAP NAGA NAMPT NCAM1 NEIL1 NTM OGG1 OLR1 OPCML PEMT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G5 PMM2 PNPLA3 POFUT1 PRKAA2 PRKCSH PTEN PTGS2 RENBP RGN SC5D SDC1 SELP SIGLEC7 SIRT6 SLC17A5 SLC35A2 SMUG1 SPHK2 SRD5A2 ST3GAL4 ST6GAL1 ST8SIA1 ST8SIA4 STS SULT1E1 TALDO1 TKFC TKT TM7SF2 TMEM199 TNF UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMOD VCAM1 XYLT2	100507436 10135 10159 10327 10400 1048 1087 1116 11253 11332 124 125 126 1312 147007 1543 1544 1545 1555 1557 1559 1571 1576 1581 1586 1595 1636 1645 1737 1962 2027 2131 217 219 22914 23193 23509 23583 23600 250 2523 2524 2531 2538 2592 26007 26033 2632 26503 2678 27036 2719 27306 2739 2752 2813 2990 3030 3033 3036 3038 30835 31 3101 3158 3290 3383 34 347527 3482 3556 3612 37 3931 3958 3965 3988 4051 4069 412 4153 43 4351 4507 4668 4684 4968 4973 4978 50863 51266 51477 51548 5168 5290 5291 5293 5294 5315 5322 537 5373 54575 54576 54577 54578 54579 54600 54657 54658 54659 5563 5589 55997 5648 56624 56848 56886 57016 5728 5743 5973 6309 6382 6403 64083 64132 6480 6484 6489 6716 6718 6783 6888 7086 7108 7124 7355 7364 7369 7412 7903 79143 79661 80270 80339 84317 8630 9104 912 929 9420 9563	Homo sapiens (human)
DOID:5732	pyosalpinx Aliases: Pyosalpingitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
DOID:0110114	atrial heart septal defect 9 Aliases: ASD9 atrial septal defect 9	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:8295	scabies Aliases: Infestation by Sarcoptes scabiei Infestation by Sarcoptes scabiei var hominis Sarcoptic itch	CAT	847	Homo sapiens (human)
DOID:9230	pompholyx Aliases: Cheiropompholyx DYSHYDROTIC ECZEMA Vesicular eczema of hands and/or feet dyshidrosis	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1	1116 308 3417 3418 3420 3820 4051 6783 79993 8808	Homo sapiens (human)
DOID:495	sclerosing hemangioma Aliases: Sclerosing haemangioma	KLRK1 MTAP	22914 4507	Homo sapiens (human)
DOID:1781	thyroid cancer Aliases: Thyroid gland neoplasm malignant neoplasm of thyroid gland malignant tumour of thyroid gland neoplasm of thyroid gland thyroid gland cancer thyroid neoplasm	ABO ACACA ACE AGK AGPS AKR1C2 ALOX12 ALOX15 AMACR ANXA5 APRT ARSA ASAH1 BAAT CAT CD1D CD44 CD74 CEACAM5 CNTN1 CYB5R3 CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2B6 CYP3A4 DCN DPEP1 ENPP2 FH FUCA1 G6PD GAPDH GFRA1 GLB1 GPC3 GPD2 GPLD1 GPX1 GPX3 GUSB HPGDS HPRT1 HPSE HSPG2 ICAM1 IDH1 IDH2 IDUA IGF2R IL1R1 INPP4B KL KLB L1CAM LDHA LGALS16 LGALS1 LGALS3 MBL2 MICA MINPP1 MRC1 MUTYH NAMPT NCAM1 NTHL1 PARP1 PARP4 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2R1 PRKAA2 PTEN PTGDS PTGES2 PTGES3 PTGS1 PTGS2 QPRT RECK RPIA SCD SDC1 SDC2 SDC4 SDHB SDHC SDHD SIRT4 SLC2A3 SMUG1 SOAT1 SORD SPHK1 TKTL1 ULBP2 UPP1 VCAN VTCN1	100507436 10135 1048 10728 10855 1272 142 143 1462 148003 152831 1543 1555 1576 1588 1591 1594 1634 1636 1646 1727 1800 2271 22925 22934 23409 23475 23583 23600 239 246 2517 2539 2597 2674 2719 2720 27306 28 2820 2822 2876 2878 2990 308 31 3251 3339 3383 3417 3418 3425 3482 353 3554 3897 3939 3956 3958 410 4153 427 4360 4595 4684 4913 5168 5209 5290 5291 5293 5294 5315 5563 55750 570 5728 5730 5742 5743 6319 6382 6383 6385 6390 6391 6392 6515 6646 6652 7378 79679 80142 80328 8277 8434 847 8540 8821 8877 912 9365 9562 960 972	Homo sapiens (human)
DOID:0050783	secondary progressive multiple sclerosis Aliases: SPMS Secondary-progressive MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	CLEC16A CYP24A1 CYP2R1 RPE TNF	120227 1591 23274 6120 7124	Homo sapiens (human)
DOID:10965	spastic diplegia Aliases: Diplegic infantile cerebral palsy Infantile spastic cerebral palsy Little's disease Littles disease cerebral spastic infantile paralysis infantile diplegic cerebral palsy	ACHE ACSM1 ACSM2A ALDH3A2 ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GLUL GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 224 250 2571 26033 2639 2752 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 4860 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)
DOID:3137	obsolete multiple symmetrical lipomatosis	CEL PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PTEN	1056 10908 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0050256	angiostrongyliasis	LGALS2	3957	Homo sapiens (human)

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