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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 **1676 - 1700** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:3246	embryonal rhabdomyosarcoma	EFNA1 HPSE ICAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMPD1	10855 142 1942 3383 5290 5291 5293 5294 5728 6609	Homo sapiens (human)
DOID:3255	botryoid rhabdomyosarcoma Aliases: Botryoid sarcoma Botryoid-type Embryonal Rhabdomyosarcoma sarcoma botryoides	EFNA1 HPSE ICAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMPD1	10855 142 1942 3383 5290 5291 5293 5294 5728 6609	Homo sapiens (human)
DOID:5117	dermoid cyst of ovary Aliases: Dermoid cyst Ovarian Dermoid Cyst	AKR1C3 CS HPSE NEU1 OPCML PTEN SLC2A3 SLC2A4 TMTC3	10855 1431 160418 4758 4978 5728 6515 6517 8644	Homo sapiens (human)
DOID:12531	von Willebrand's disease Aliases: vascular hemophilia vascular pseudohemophilia von Willebrand disease von Willebrand disorder von Willebrand's-Jurgens' disease von Willebrand-Jrgens disease	ABO ACADVL ATP6V0A2 BAAT CANX GPI HADHA HPSE OTOA PDIA3 SACM1L SELP	10855 146183 22908 23545 28 2821 2923 3030 37 570 6403 821	Homo sapiens (human)
DOID:1312	focal segmental glomerulosclerosis Aliases: FGS FSGS focal glomerular sclerosis focal glomerulosclerosis	ACACA ACE ALG13 CD44 CMAS CYP11B2 G6PC1 HPSE IL1R1 LIPC LPL MLYCD NAGLU PKD1 PKD2 PLA2G1B PLA2R1 PLB1 PLCE1 PLCG1 SELP SGPL1 SLC37A4 SMPDL3B VCAN	10855 1462 151056 1585 1636 22925 23417 2538 2542 27293 31 3554 3990 4023 4669 51196 5310 5311 5319 5335 55907 6403 79868 8879 960	Homo sapiens (human)
DOID:3132	porphyria cutanea tarda	CYP1A1 CYP1A2 CYP2E1 HJV HPGDS HPSE KL PTEN SOAT1	10855 148738 1543 1544 1571 27306 5728 6646 9365	Homo sapiens (human)
DOID:2512	nevoid basal cell carcinoma syndrome Aliases: Gorlin syndrome NBCCS basal cell nevus syndrome	CYP1A1 CYP2B6 GAS1 GLB1 GPC3 HPSE SLC2A3	10855 1543 1555 2619 2719 2720 6515	Homo sapiens (human)
DOID:12894	Sjogren's syndrome Aliases: Sicca syndrome Sjogren syndrome xerodermosteosis	ACE ALPP AMY1A AMY1B AMY1C ATRNL1 BST2 CALR CD14 CD44 CHIA CHST3 CNTN2 CYP19A1 CYP1A1 DGKQ DLAT FUCA1 GLO1 HPSE ICAM1 IL18R1 LYZ MBL2 PC PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN SELE SELP SEMA7A SOAT1 SPHK1 STS TNF VCAM1 VTCN1	10855 1543 1588 1609 1636 1737 250 2517 26033 27159 2739 276 277 278 3383 4069 412 4153 5091 5290 5291 5293 5294 5563 5728 6401 6403 6646 684 6900 7124 7412 79679 811 8482 8809 8877 929 9469 960	Homo sapiens (human)
DOID:12895	keratoconjunctivitis sicca Aliases: KCS	ACE ALPP AMY1A AMY1B AMY1C ATRNL1 CALR CD14 CD44 CHIA CHST3 CNTN2 CYP19A1 CYP1A1 DGKQ DLAT FUCA1 GLO1 HPSE ICAM1 IL18R1 LYZ MBL2 PC PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN SELE SEMA7A SOAT1 SPHK1 STS TNF VCAM1 VTCN1	10855 1543 1588 1609 1636 1737 250 2517 26033 27159 2739 276 277 278 3383 4069 412 4153 5091 5290 5291 5293 5294 5563 5728 6401 6646 6900 7124 7412 79679 811 8482 8809 8877 929 9469 960	Homo sapiens (human)
DOID:11260	rabies Aliases: Lyssa	CH25H CYP1A2 CYP2C9 CYP3A4 ENOSF1 FUT2 GAS1 HPSE MTM1 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1C SOAT1	10855 1544 1559 1576 23396 2524 2619 4534 5290 5291 5293 5294 55556 6646 9023	Homo sapiens (human)
DOID:1727	retinal vein occlusion Aliases: Occlusion, of retinal vein	ACE CYP1B1 HPSE PNP VCAM1	10855 1545 1636 4860 7412	Homo sapiens (human)
DOID:0080162	lupus nephritis	ACE AGA ALG1 CALR CD38 CD44 CD74 CLEC7A CYP2B6 CYP2C19 CYP3A5 ENO1 EPHX2 EXT1 EXT2 FCGR3B FCN1 FCN2 FCN3 HPSE HSPG2 ICAM1 LGALS3 LGALS9 MBL2 OGG1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PTEN PTGDS PTGS1 PTGS2 SDC2 TNF VCAM1 VTCN1	10855 1555 1557 1577 1636 175 2023 2053 2131 2132 2215 2219 2220 22925 3339 3383 3958 3965 4153 4968 5236 5290 5291 5293 5294 56052 5728 5730 5742 5743 6383 64581 7124 7412 79679 811 8547 952 960 972	Homo sapiens (human)
DOID:2691	myoma Aliases: benign neoplasm of the Muscle	CYP19A1 CYP2B6 HPSE	10855 1555 1588	Homo sapiens (human)
DOID:0050894	ameloblastoma	CD44 DAG1 GGT1 GPC1 GPC3 HPSE HSPG2 MOGS PTGS2 RECK SDC1 SDC2	10855 1605 2678 2719 2817 3339 5743 6382 6383 7841 8434 960	Homo sapiens (human)
DOID:8649	tongue cancer Aliases: malignant neoplasm of tongue	CALR DAG1 GOLPH3 HPSE KLRC1 LGALS3 LSS NANS PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PTEN PTGS2	10855 1605 3821 3958 4047 5290 5291 5293 5294 5329 54187 5728 5743 64083 811	Homo sapiens (human)
DOID:5485	synovial sarcoma	ACE CD38 ENO2 GLB1 GLO1 HPSE NANS PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SELE SIRT2 SLC3A1 SMUG1 VCAM1 VTCN1	10855 1636 2026 22933 23583 2720 2739 5091 5290 5291 5293 5294 54187 5728 5743 6401 6519 7412 79679 952	Homo sapiens (human)
DOID:13025	retinopathy of prematurity Aliases: Retrolental fibroplasia premature retinopathy	ACE CAT EPHX2 FCN2 HPSE ICAM1 LGALS1 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 TM7SF2 TMED5	10855 1636 2053 2220 27349 3383 3956 50999 5290 5291 5293 5294 57104 5716 7108 847	Homo sapiens (human)
DOID:0111412	exudative vitreoretinopathy 1 Aliases: EVR1	ACE CAT EPHX2 FCN2 HPSE ICAM1 LGALS1 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 TM7SF2 TMED5	10855 1636 2053 2220 27349 3383 3956 50999 5290 5291 5293 5294 57104 5716 7108 847	Homo sapiens (human)
DOID:11125	qualitative platelet defect Aliases: Qualitative platelet deficiency	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 PRNP SELP VCAM1 XYLT1	10855 1738 27163 3956 3964 4669 5319 5320 5621 60495 6403 64083 64131 7412 8398	Homo sapiens (human)
DOID:0111051	platelet-type bleeding disorder 18 Aliases: BDPLT18 bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 SELP VCAM1	10855 1738 27163 3956 3964 4669 5319 5320 60495 6403 64083 7412 8398	Homo sapiens (human)
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 SELP VCAM1	10855 1738 27163 3956 3964 4669 5319 5320 60495 6403 64083 7412 8398	Homo sapiens (human)
DOID:0111049	platelet-type bleeding disorder 17 Aliases: BDPLT17 hereditary thrombasthenia-thrombocytopenia	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 SELP VCAM1	10855 1738 27163 3956 3964 4669 5319 5320 60495 6403 64083 7412 8398	Homo sapiens (human)
DOID:0111044	gray platelet syndrome Aliases: BDPLT4 GPS platelet alpha-granule deficiency platelet-type bleeding disorder 4	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 SELP VCAM1	10855 1738 27163 3956 3964 4669 5319 5320 60495 6403 64083 7412 8398	Homo sapiens (human)
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	ACAN CHST3 EXT1 EXT2 EXTL1 EXTL2 EXTL3 HPSE HSPG2 IDH1 IDH2 SDC2 SLC35B2 SULT1E1 UXS1	10855 176 2131 2132 2134 2135 2137 3339 3417 3418 347734 6383 6783 80146 9469	Homo sapiens (human)
DOID:0080177	hepatic veno-occlusive disease Aliases: veno-occlusive disease	CD22 FCN2 HPSE TYMP XYLT2	10855 1890 2220 64132 933	Homo sapiens (human)

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