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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 **1426 - 1450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0050670	ataxic cerebral palsy Aliases: hypotonic cerebral palsy	CEL CYP2E1 NDUFAB1	1056 1571 4706	Homo sapiens (human)
DOID:4798	aggressive systemic mastocytosis Aliases: ASM Lymphadenopathic mastocytosis with eosinophilia	CALR CAT CD33 CD38 CEL CYP24A1 ETNK1 FCER2 FH SMPD1	1056 1591 2208 2271 55500 6609 811 847 945 952	Homo sapiens (human)
DOID:350	mastocytosis Aliases: mast cell hyperplasia	ACLY CALR CD33 CD38 CD44 CD72 CEL DHCR24 DLD ENOSF1 ENPP3 ETNK1 FCER2 FH GPX1 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2E PTGS2 SMPD1	1056 1718 1738 2208 2271 27349 2876 30814 3339 3383 3418 47 5169 5290 5291 5293 5294 55500 55556 5743 6609 811 945 952 960 9653 971	Homo sapiens (human)
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	CEL EHHADH GCK HADH HAO1 HAO2 HK2 HK3 HKDC1 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 3099 3101 4351 51179 5236 5373 54363 80201 8050	Homo sapiens (human)
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	CEL EHHADH GCK HADH HAO1 HAO2 KCNJ11 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 3767 4351 51179 5236 5373 54363 8050	Homo sapiens (human)
DOID:0070219	familial hyperinsulinemic hypoglycemia 1 Aliases: HHF1	CEL EHHADH GCK HADH HAO1 HAO2 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 4351 51179 5236 5373 54363 8050	Homo sapiens (human)
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	APRT CD14 CD38 CEL CNTN2 DHDDS ENO2 FH G6PD HSD17B6 IDH1 IDH2 MRC1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN SDHB SDHC SDHD SMUG1 SORD	1056 2026 2271 23583 2539 3417 3418 353 4360 5226 5290 5291 5293 5294 5310 5728 6390 6391 6392 6652 6900 79947 8630 929 952	Homo sapiens (human)
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	APRT CEL CYB5R4 FBP1 FOLR2 GAD1 GCK GGT1 GPD1 HK1 HK2 HK3 HKDC1 IL18R1 INS PCK1 PDHX PDX1 PLCG1 PPP1R3B SACM1L SLC2A2	1056 2203 22908 2350 2571 2645 2678 2819 3098 3099 3101 353 3630 3651 5105 51167 5335 6514 79660 80201 8050 8809	Homo sapiens (human)
DOID:4660	indolent systemic mastocytosis Aliases: ISM	CALR CD33 CD38 CEL ETNK1 FCER2 FH HS2ST1 ICAM1 IDH2 PLA2G2E SMPD1	1056 2208 2271 30814 3383 3418 55500 6609 811 945 952 9653	Homo sapiens (human)
DOID:349	systemic mastocytosis Aliases: SMCD - systemic mast cell disease systemic tissue mast cell disease	CALR CD33 CD38 CEL ETNK1 FCER2 FH SMPD1	1056 2208 2271 55500 6609 811 945 952	Homo sapiens (human)
DOID:0080367	chronic eosinophilic leukemia	CEL FCER2 IL18R1 PTEN	1056 2208 5728 8809	Homo sapiens (human)
DOID:2975	cystic kidney disease Aliases: renal Cyst	ALG8 ALG9 ARF4 CEL FH GPC3 HSD17B1 HSD17B4 INPP5E PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PMM2 POMT2 PRKCSH PTEN UGCG UMOD	1056 2271 2719 29954 3292 3295 378 51604 5290 5291 5293 5294 5310 5311 5373 5589 56623 5728 7357 7369 79053 79796	Homo sapiens (human)
DOID:9621	non-congenital cyst of kidney	ALG8 CEL FH GPC3 HSD17B1 HSD17B4 INPP5E PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PMM2 PRKCSH PTEN UGCG	1056 2271 2719 3292 3295 51604 5290 5291 5293 5294 5310 5311 5373 5589 56623 5728 7357 79053	Homo sapiens (human)
DOID:0080187	chronic neutrophilic leukemia	CALR CEL SOAT1	1056 6646 811	Homo sapiens (human)
DOID:0111105	maturity-onset diabetes of the young type 8 Aliases: MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction	CEL	1056	Homo sapiens (human)
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	Adipoq Akr1a1 Akt1 Bad Chi3l1 Comt Igf2 Kat2b Lep Myc Ogg1 Pgf Pik3ca Prkaa1 Ptges3 Tcf7l2 Tlr2 Tlr4 Tnf Trp53 Ugt1a1	105787 11450 11651 12015 12654 12846 16002 16846 17869 18294 18519 18654 18706 21416 21898 21926 22059 24088 394436 56351 58810	Mus musculus (house mouse)
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	Akt1 Akt2 Gba1 Gpi1 Gsk3b Gsto1 Gsto2 Igf2 Lep Mapk14 Ogg1 Pgk1 Pgk2 Ppargc1a Prkaa1	105787 11651 11652 14466 14751 14873 16002 16846 18294 18655 18663 19017 26416 56637 68214	Mus musculus (house mouse)
DOID:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	Akt1 Bad Chi3l1 Hs3st2 Idh2 Kat2a Lep Prkaa1 Slc3a2 Tnf Trp53 Tymp Ugt1a1	105787 11651 12015 12654 14534 16846 17254 195646 21926 22059 269951 394436 72962	Mus musculus (house mouse)
DOID:219	colon cancer	Akt1 Bad Gsk3b Hs3st2 Mapk14 Prkaa1	105787 11651 12015 195646 26416 56637	Mus musculus (house mouse)
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	G6pd2 G6pdx Prkaa1 Pygm	105787 14380 14381 19309	Mus musculus (house mouse)
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	Lep Ppargc1a Prkaa1 Qprt Ucp2	105787 16846 19017 22228 67375	Mus musculus (house mouse)
DOID:674	cleft palate Aliases: Palatoschisis	ALPP ATRNL1 B3GALT6 B3GAT3 B3GLCT CAT CHST14 CHST3 COL9A2 COLEC10 COLEC11 COMT CYP1A2 CYP24A1 DHCR24 EBP FKRP FKTN G6PC3 GAD1 GAS1 GMPPB GPC3 HSPG2 INPP5E INPPL1 LARGE1 LFNG MASP1 MRC1 MTMR3 NT5E PGAP2 PGM1 PIGL PIGN PIGO PIGP PIGQ PLCB4 POMT1 POMT2 SC5D SDC2 SELENOI SLC26A2 SLC35D1 SMC3 SRGN TGDS TIGAR TKTL1 XYLT1	10584 10585 10682 113189 126792 1298 1312 145173 1544 1591 1718 1836 2218 23169 23483 23556 250 2571 26033 2619 26229 2719 27315 29925 29954 3339 3636 3955 4360 4907 51227 5236 5332 5552 5648 56623 57103 6309 6383 64131 78989 79147 8277 847 84720 85465 8897 9091 9126 9215 92579 9469 9487	Homo sapiens (human)
DOID:0110213	isolated cleft palate	ALPP ATRNL1 B3GALT6 B3GAT3 B3GLCT CAT CHST14 CHST3 COL9A2 COLEC10 COLEC11 COMT CYP1A2 CYP24A1 DHCR24 EBP FKRP FKTN G6PC3 GAD1 GAS1 GMPPB GPC3 HSPG2 INPP5E INPPL1 LARGE1 LFNG MASP1 MRC1 MTMR3 NT5E PGAP2 PGAP3 PGM1 PIGL PIGN PIGO PIGP PIGQ PLCB4 POMT1 POMT2 SC5D SELENOI SLC26A2 SLC35D1 SMC3 SRD5A3 SRGN TGDS TIGAR TKTL1 XYLT1	10584 10585 10682 113189 126792 1298 1312 145173 1544 1591 1718 1836 2218 23169 23483 23556 250 2571 26033 2619 26229 2719 27315 29925 29954 3339 3636 3955 4360 4907 51227 5236 5332 5552 5648 56623 57103 6309 64131 78989 79147 79644 8277 847 84720 85465 8897 9091 9126 9215 92579 93210 9469 9487	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:0050908	myelodysplastic syndrome	ABAT ABO ACE ACHE ACSL5 ACSL6 ALOX5 ALPI ALPP AMACR ANXA5 ARSH BAAT CALR CD14 CD177 CD22 CD33 CD38 CD48 CD55 CFC1 CHST9 CLEC12A COLEC10 CPT1A CPT2 CYP1B1 CYP2B6 CYP2E1 CYP3A5 EBP FCGR3B FUT1 FUT4 G6PC3 G6PD GGT1 GPI GPX3 GYS1 HAS2 HJV HPGDS HPSE2 HPSE ICAM1 IDH1 IDH2 IL18R1 INPP5D LGALS9 NAAA NAGLU NANS NCAM1 OGG1 PAFAH1B1 PARP1 PDIA3 PGK1 PGP PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G4A PLA2R1 PLCB1 PLCB4 PLCE1 PLCG1 POGLUT1 PTEN SFTPA1 SLC17A5 SMPD3 SOAT1 SPHK1 STS TNF TNFRSF10C TP53	10584 10682 10855 1374 1376 142 148738 1545 1555 1571 1577 160364 1604 1636 18 2215 22925 23236 23305 23556 23600 240 248 250 2523 2526 2539 26503 2678 27163 27306 28 2821 283871 2878 2923 2997 3037 308 3383 3417 3418 347527 3635 3965 412 43 4669 4684 4968 5048 51196 51703 5230 5277 5290 5291 5293 5294 5305 5321 5332 5335 54187 55512 55997 56983 570 57126 5728 60495 653509 6646 7124 7157 811 83539 8794 8809 8877 92579 929 933 945 952 962	Homo sapiens (human)

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