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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 **2301 - 2325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0110337	osteogenesis imperfecta type 7 Aliases: OI7 osteogenesis imperfecta type VII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110344	osteogenesis imperfecta type 5 Aliases: OI5 osteogenesis imperfecta type V	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110341	osteogenesis imperfecta type 2 Aliases: OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110351	osteogenesis imperfecta type 11 Aliases: OI11 osteogenesis imperfecta type XI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110340	osteogenesis imperfecta type 4 Aliases: OI4 osteogenesis imperfecta type IV osteogenesis imperfecta with normal sclera	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110342	osteogenesis imperfecta type 13 Aliases: OI13 osteogenesis imperfecta type XIII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110347	osteogenesis imperfecta type 15 Aliases: OI15 osteogenesis imperfecta type XV	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110336	osteogenesis imperfecta type 8 Aliases: OI8 osteogenesis imperfecta type VIII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110350	osteogenesis imperfecta type 6 Aliases: OI6 osteogenesis imperfecta type VI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110334	osteogenesis imperfecta type 1 Aliases: OI1 osteogenesis imperfecta type I	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110343	osteogenesis imperfecta type 14 Aliases: OI14 osteogenesis imperfecta type XIV	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:5870	eosinophilic pneumonia Aliases: Pneumonia, eosinophilic	ALPL CEL CHI3L1 HPGDS IL1R1 IL1RL1 ISYNA1 PARP9 PTGDS SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 27306 3554 51477 5730 83666 9173	Homo sapiens (human)
DOID:9503	Loeffler syndrome Aliases: Loeffler's pneumonia Loffler's syndrome	ALPL CEL CHI3L1 HPGDS IL1R1 IL1RL1 ISYNA1 PARP9 PTGDS SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 27306 3554 51477 5730 83666 9173	Homo sapiens (human)
DOID:9498	pulmonary eosinophilia	ALPL CEL CHI3L1 IL1R1 IL1RL1 ISYNA1 PARP9 SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 3554 51477 83666 9173	Homo sapiens (human)
DOID:0070086	schizophrenia 10 Aliases: SCZD10	ALPL CERK	249 64781	Homo sapiens (human)
DOID:12466	secondary hyperparathyroidism	ALPL CYP24A1 CYP27B1 CYP2B6 CYP2R1 CYP3A4 KL PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 UMOD	120227 1555 1576 1591 1594 249 5290 5291 5293 5294 5743 7369 9365	Homo sapiens (human)
DOID:3308	embryonal carcinoma Aliases: primary extragonadal embryonal carcinoma	ALPL FUT4 PSMD10 PTEN	249 2526 5716 5728	Homo sapiens (human)
DOID:0050763	ARC syndrome Aliases: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis	ALPL GGT1	249 2678	Homo sapiens (human)
DOID:0111353	arthrogryposis, renal dysfunction, and cholestasis 1 Aliases: ARCS1	ALPL GGT1	249 2678	Homo sapiens (human)
DOID:0110915	childhood hypophosphatasia	ALPL	249	Homo sapiens (human)
DOID:0111344	myeloproliferative disorder with eosinophilia Aliases: chronic myeloproliferative disorder with eosinophilia	ALPP ANXA5 ATRNL1 B3GAT1 CEACAM5 CEACAM7 COMT DCN ENO2 FCGR3B ICAM1 LTA4H NCAM1 PKM SCD SMUG1 TKT VTCN1	1048 1087 1312 1634 2026 2215 23583 250 26033 27087 308 3383 4048 4684 5315 6319 7086 79679	Homo sapiens (human)
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	ALPP APRT ATRNL1 CAT HPSE2 LCAT PKM PLAUR SCD UNG	250 26033 353 3931 5315 5329 60495 6319 7374 847	Homo sapiens (human)
DOID:0050453	lissencephaly	ALPP ATP6V0A2 ATP6V1A ATRNL1 B3GALNT2 B4GAT1 CD33 CD38 COMT CRPPA CYP2B6 DAG1 DHCR24 DLD DLST FCN2 FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL OCRL PAFAH1B1 PIGA PIGN PIGP PIGQ PLCB1 PLCE1 PLCG1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RXYLT1 SDC2 SLC17A5 STS TMTC3	10329 10585 11041 1312 148789 1555 160418 1605 1718 1738 1743 2218 2220 23236 23545 23556 250 26033 26503 29954 3339 412 4952 5048 50814 51196 51227 523 5277 5335 55624 5728 6383 729920 79147 84197 84892 9091 9215 945 952 9896	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: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)

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