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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 **4901 - 4925** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:7693	abdominal aortic aneurysm Aliases: AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1	ABO ACE ACLY ACSS2 ALOX5 APRT ARSA ARSI CAT CD14 CD1D CD22 CD44 CNTN3 CTSA CYP19A1 CYP2J2 DCN EFNA5 FCGR3B FCN3 HPSE ICAM1 ICAM2 IL18R1 IL1R1 LGALS3 LTA4H LTC4S MBD4 MCAT PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G15 PLA2G7 PRKAA2 PTEN PTGES PTGS2 RECK RENBP SELL SLC33A1 SMUG1 SRD5A1 TM7SF2 VCAM1 VCAN XYLT1	10855 142 1462 1573 1588 1634 1636 1946 2215 23583 23659 240 27349 28 3383 3384 340075 353 3554 3958 4048 4056 410 47 5067 5130 5290 5291 5293 5294 5476 5563 55902 5728 5743 5973 6402 64131 6715 7108 7412 7941 8399 8434 847 8547 8809 8930 912 9197 929 933 9536 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:12341	retroperitoneal sarcoma	ACSS2 PLA2G15 SMUG1	23583 23659 55902	Homo sapiens (human)	DisGeNET
DOID:8125	osteochondrosis Aliases: Epiphyseal necrosis apophysitis epiphysitis osteochondritis osteochondritis juvenilis	COL9A2	1298	Homo sapiens (human)	DisGeNET DisGeNET
DOID:310	MERRF syndrome Aliases: Fukuhara syndrome Myoclonic epilepsy - ragged red fibers Myoclonus epilepsy AND ragged red fibers Myoclonus with epilepsy and with Ragged Red Fibers	CLN5 EPM2A	1203 7957	Homo sapiens (human)	DisGeNET
DOID:0110805	hereditary spastic paraplegia 53 Aliases: SPG53 autosomal recessive spastic paraplegia 53 autosomal recessive spastic paraplegia type 53	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)	DisGeNET
DOID:4610	intestinal benign neoplasm Aliases: intestinal tumors intestine growth neoplasm of intestinal tract	B4GALNT1 CEACAM5 DCN EFNA1 GPX1 GPX2 HPGDS PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PRSS8 PTGDS PTGS2 SHMT1 SMC3 TIGAR	1048 1634 1942 2583 27306 2876 2877 5290 5291 5293 5294 5320 5652 57103 5730 5743 6470 9126	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5376	skin pilomatrix carcinoma Aliases: Pilomatricoma, malignant malignant Pilomatricoma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:5842	testis seminoma Aliases: Seminoma of testis Seminoma testis testicular Seminoma Pure	ACACA ACE ALPP CD44 CLGN CYP17A1 CYP19A1 CYP1A1 CYP2B6 CYP3A5 CYP3A7 ETNK1 GGT1 HMMR HPGDS ICAM1 IL18R1 L1CAM LDHC LGALS3 LY6K MCFD2 MRC1 PCYT1A PGD PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SLC2A5 SMUG1 SPACA3 STS SULF1 SULF2 UGT1A1	1047 124912 1543 1551 1555 1577 1586 1588 1636 23213 23583 250 2678 27306 31 3161 3383 3897 3948 3958 412 4360 5130 5226 5290 5291 5293 5294 54658 54742 55500 55959 5716 5728 6518 8809 90411 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111452	progressive myoclonus epilepsy 1A Aliases: EPM1A	ARSA ASAH1 EPM2A NEU1 PFKL PRNP TMED9	410 427 4758 5211 54732 5621 7957	Homo sapiens (human)	DisGeNET
DOID:14110	anus cancer Aliases: anal cancer malignant anal tumor	CEACAM5 LIPA PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1048 23583 3988 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0080505	Cornelia de Lange syndrome 1	ARSD GALNT14 SMC3 TNKS	414 79623 8658 9126	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1166	palindromic rheumatism Aliases: Hench's syndrome Hench-Rosenberg syndrome	STS	412	Homo sapiens (human)	DisGeNET
DOID:2339	Crouzon syndrome Aliases: Craniofacial Dysostosis	GPC3 TKTL1	2719 8277	Homo sapiens (human)	DisGeNET DisGeNET
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)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0090083	hypogonadotropic hypogonadism 2 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050648	atelosteogenesis	ANXA5 PARP1 SLC26A2	142 1836 308	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060466	gingival fibromatosis Aliases: hereditary gingival fibromatosis hereditary gingival hyperplasia	HAS3 HPSE ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG SLC2A4	10855 3038 3383 5290 5291 5293 5294 6517	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050726	tyrosinemia type I Aliases: hepatorenal tyrosinemia	ACAT1 IDUA OGG1	3425 38 4968	Homo sapiens (human)	DisGeNET
DOID:8924	autoimmune thrombocytopenic purpura Aliases: Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura	ABO ACSBG1 CD38 CD44 CD72 CLEC1B FCGR3B FCN2 GALC HPSE2 HPSE IL1R1 KLRD1 LGALS9 MBD4 MBL2 MICA MRC1 NCAM1 PNP PTEN PTGS1 PTGS2 SELE SELP SMPD1 STS VNN1	100507436 10855 2215 2220 23205 2581 28 3554 3824 3965 412 4153 4360 4684 4860 51266 5728 5742 5743 60495 6401 6403 6609 8876 8930 952 960 971	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5567	ovarian germ cell teratoma Aliases: germ cell teratoma of Ovary	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:3891	placental insufficiency	ABO ACACA ACADVL ACE ACSL4 ADH1B AGA AKR1A1 AKR1B1 ALDH2 ALDH3A1 ALG12 ALG13 ALG1 ALG8 ANXA5 ATP6V0A2 ATP6V1A B3GLCT BCKDHA CALR CAT CD74 CEL CHPT1 CNTN1 COG1 COG4 COG5 COG6 COG7 COMT CPT1A CPT2 CRYL1 CYB5R3 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP2E1 CYP7A1 DCN DHCR24 DHCR7 DLAT FCN2 FCN3 FIG4 FKTN FUT8 G6PC1 GALC GALK1 GAPDH GAS1 GBA1 GCK GK GLUL GPC1 GPC3 GPI GPX1 H6PD HADH HADHA HADHB HAS2 HK1 HSD11B2 HSD17B1 IGF2R IL1RAPL1 KL KLRB1 LDHC LFNG LGALS2 LGALS3 LIPG LPL MAG MASP1 MBL2 MPI MTM1 MYORG NGLY1 OGDH PCK1 PDHA1 PDHX PDX1 PFKFB2 PIGF PIGG PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLCG1 PLOD3 PNPLA6 POMT1 PPARGC1A PRKAA2 PRNP PRPS1 PTDSS1 PTEN PTGS2 SC5D SDC1 SDHA SDHB SDHD SIRT2 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMC3 STT3B TALDO1 TGDS UGDH UPP1 VCAM1 VTCN1 XYLT1	10327 10466 10559 1056 10585 10891 10908 11141 125 1272 1312 1374 1376 145173 1543 1571 1581 1583 1584 1586 1588 1634 1636 1717 1718 1727 1737 175 1836 201595 217 218 2182 2218 2220 22933 231 23483 23545 2530 2538 2581 25839 2584 2597 2619 2629 2645 2710 2719 2752 28 2817 2821 2876 3030 3032 3033 3037 308 3098 31 3291 3292 3482 3651 37 3820 3948 3955 3957 3958 4023 4099 4153 4351 4534 4967 5105 51084 5160 5208 523 5281 5286 5290 5291 5293 5294 5311 5335 54872 5563 55768 56052 5621 5631 5648 56994 5728 5743 57462 57511 593 6309 6382 6389 6390 6392 64131 6514 6515 6517 6888 7355 7358 7378 7412 79053 79087 79679 79868 8050 811 847 8547 8985 9126 91949 9197 9365 9382 9388 9563 972 9791 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060340	ciliopathy	PKD2	5311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110914	infantile hypophosphatasia Aliases: Hops phosphoethanolaminuria	ALPL ALPP ATRNL1	249 250 26033	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:10241	thalassemia Aliases: Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis	ABO ACOT7 CD177 CD38 CD55 CHIT1 CHPT1 COL9A2 CPT1A CPT2 CRYL1 CYP2E1 CYP3A4 G6PD H6PD HACD1 HJV HK1 HPGDS LPCAT3 NAAA OGA PC PGD PKD1 PKLR SCD SLC35A2 TNF UGDH UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS VCAM1	10162 10724 1118 11332 1298 1374 1376 148738 1571 1576 1604 2539 27163 27306 28 3098 5091 51084 5226 5310 5313 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6319 7124 7355 7358 7372 7412 9200 952 9563	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2073	perinatal intestinal perforation	ENPP1	5167	Homo sapiens (human)	DisGeNET

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