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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2326 - 2350** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:529	blepharospasm	AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS DLAT EPM2A GBA1 GCDH GCSH GLDC GLYCTK HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1	10715 1203 132158 151056 1557 1593 1737 22901 23236 23556 26275 2629 2639 2653 2731 27315 275 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6389 6392 6487 6900 7957 79947 8398 84342 84720 84992 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT B3GAT1 GCSH GLDC GLYCTK MGAT1 UGCG	132158 2653 27087 2731 275 4245 7357	Homo sapiens (human)
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:0060732	chromosome 9p deletion syndrome Aliases: 9p syndrome Alfi syndrome monosomy 9p syndrome	AMT CYP11A1 FREM1 GLDC PAFAH1B1 PRNP	1583 158326 2731 275 5048 5621	Homo sapiens (human)
DOID:14118	familial lipoprotein lipase deficiency Aliases: Fredrickson type I hyperlipoproteinemia Fredrickson type I lipaemia familial LPL deficiency familial hyperlipoproteinemia type I hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia	AMT DGAT1 GBE1 GPIHBP1 LCAT LPL PNPLA2	2632 275 338328 3931 4023 57104 8694	Homo sapiens (human)
DOID:1171	hyperlipoproteinemia type V Aliases: Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia	AMT DGAT1 GPIHBP1 LCAT LPL PNPLA2	275 338328 3931 4023 57104 8694	Homo sapiens (human)
DOID:120	female reproductive organ cancer Aliases: female reproductive cancer malignant Gynecologic tumor malignant neoplasm of female genital organ	AMT HPGDS MRC1 PIK3CA UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	27306 275 4360 5290 54575 54576 54577 54578 54657 54658	Homo sapiens (human)
DOID:8463	corneal ulcer	AMT LGALS3 NGLY1 PTGS2 SFTPA1 SFTPA2 SFTPD TNF	275 3958 55768 5743 6441 653509 7124 729238	Homo sapiens (human)
DOID:0080440	developmental and epileptic encephalopathy 3 Aliases: early infantile epileptic encephalopathy 3	AMT PIGA	275 5277	Homo sapiens (human)
DOID:1931	hypothalamic disease	AMY1A AMY1B AMY1C APRT CAT CYP17A1 CYP19A1 HPGDS L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PRNP	1586 1588 27306 276 277 278 353 3897 5290 5291 5293 5294 5621 847	Homo sapiens (human)
DOID:11201	parathyroid gland disease Aliases: disease of parathyroid glands	AMY1A AMY1B AMY1C APRT CAT CYP19A1 HPGDS KL L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PRNP	1588 27306 276 277 278 353 3897 5290 5291 5293 5294 5621 847 9365	Homo sapiens (human)
DOID:11049	meconium aspiration syndrome Aliases: Neonatal aspiration of meconium meconium aspiration	AMY1A AMY1B AMY1C CD14 PTGS1 PTGS2	276 277 278 5742 5743 929	Homo sapiens (human)
DOID:2800	acute interstitial pneumonia Aliases: AIP Hamman-Rich disease Hamman-Rich syndrome Idiopathic pulmonary fibrosis, acute fatal form accelerated interstitial pneumonia acute interstitial pneumonitis	AMY2A ARSA CHI3L1 DCN DEGS1 ENO1 MBL2 PKD1 PTEN PTGS2 RECK SDC4 SFTPA1 SFTPA2 SFTPC SFTPD SMUG1 VCAN	1116 1462 1634 2023 23583 279 410 4153 5310 5728 5743 6385 6440 6441 653509 729238 8434 8560	Homo sapiens (human)
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	ANGPTL3	27329	Homo sapiens (human)
DOID:5744	ovary serous adenocarcinoma Aliases: malignant ovarian serous tumor serous carcinoma of Ovary	ANXA4 CALR LGALS3 LSS MSLN PTGS2 ST3GAL1 TP53	10232 307 3958 4047 5743 6482 7157 811	Homo sapiens (human)
DOID:746	adenomatoid tumor Aliases: adenomatoid tumour benign localised epithelial Mesothelioma benign localized epithelial Mesothelioma	ANXA4 L1CAM	307 3897	Homo sapiens (human)
DOID:5304	ovarian clear cell adenocarcinoma	ANXA4 NEU3 PIK3CA	10825 307 5290	Homo sapiens (human)
DOID:1700	X-linked ichthyosis Aliases: X-linked ichthyosis with steryl-sulphatase deficiency X-linked placental steryl-sulphatase deficiency X-linked recessive ichthyosis	ANXA5 ARSA CD44 CSPG4 DHCR7 FBP2 GLB1 HPGDS HPSE IDS LGALS1 MRC1 MTAP PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN RTN4R SMUG1 STS SUMF1	10855 142 1464 1717 23583 2720 27306 285362 308 3423 3956 410 412 4360 4507 5290 5291 5293 5294 5728 65078 8789 960	Homo sapiens (human)
DOID:4325	Ebola hemorrhagic fever Aliases: Ebola virus disease	ANXA5 BST2 CD209 CLEC10A CLEC4G DAG1 DPAGT1 FOLR2 GNPTAB GP2 LGALS1 SFTPD SIGLEC1 TPI1	10462 1605 1798 2350 2813 308 30835 339390 3956 6441 6614 684 7167 79158	Homo sapiens (human)
DOID:2988	antiphospholipid syndrome Aliases: APS antiphospholipid antibody syndrome	ANXA5 CALR CD1D GPI IDS LCT LGALS9 MBL2 PC SELP	2821 308 3423 3938 3965 4153 5091 6403 811 912	Homo sapiens (human)
DOID:4407	phototoxic dermatitis Aliases: Photosensitisation reaction Photosensitive Dermatitis Photosensitiveness	ANXA5 CAT DGAT1 FCGR3B FOLR1 INPP5K PARP1 PTGS2 RPE SMUG1 SOAT1 TMED9	142 2215 2348 23583 308 51763 54732 5743 6120 6646 847 8694	Homo sapiens (human)
DOID:0090016	chromosome 5q deletion syndrome Aliases: 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	ANXA5 CD14 CD74 HMMR	308 3161 929 972	Homo sapiens (human)
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5 TNF	26503 308 4153 4684 5091 5337 5648 6382 6402 7124 78989 929	Homo sapiens (human)
DOID:0060538	purpura fulminans Aliases: purpura gangrenosa	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5	26503 308 4153 4684 5091 5337 5648 6382 6402 78989 929	Homo sapiens (human)
DOID:0060903	thrombosis	ANXA5 CD177 CD55 CYP3A5 DCN FUT4 PIK3CB PTGS1 PTGS2 TBXAS1	1577 1604 1634 2526 308 5291 57126 5742 5743 6916	Homo sapiens (human)

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