GlyCosmos Portal

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

Displaying entries **5251 - 5275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	CD74 FDPS IDH1 IDH2 IL1R1 LYZ MACROD2 NANS PIK3CA PIK3CB PIK3CD PIK3CG PPARGC1A PTEN PTGS2	10891 140733 2224 3417 3418 3554 4069 5290 5291 5293 5294 54187 5728 5743 972	Homo sapiens (human)
DOID:169	neuroendocrine tumor Aliases: neuroendocrine neoplasm	ABO ACOT7 ACSS2 ALG9 APRT B3GAT1 CALR CD33 CD44 CEACAM5 CEACAM7 CHGA DAD1 ENO2 GFRA1 HPSE ISYNA1 MTAP MUTYH NAMPT NCAM1 NT5E NTNG1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLCB3 PTEN SDC1 SDHB SDHC SDHD SMUG1 SQLE TM7SF2 VCAN	10135 1048 10855 1087 1113 11332 142 1462 1603 2026 22854 23583 23659 2674 27087 28 353 4507 4595 4684 4907 5130 51477 5290 5291 5293 5294 5331 55902 5728 6382 6390 6391 6392 6713 7108 79796 811 945 960	Homo sapiens (human)
DOID:9786	bulbar polio Aliases: bulbar poliomyelitis	CHAT ICAM1 MMUT MRC1 PIK3CA	1103 3383 4360 4594 5290	Homo sapiens (human)
DOID:4210	clear cell meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:0111401	congenital dyserythropoietic anemia type II Aliases: CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG congenital dyserythropoietic anaemia type II	CD44 G6PD LMAN1 MAN2A1 MCFD2 MGAT2	2539 3998 4124 4247 90411 960	Homo sapiens (human)
DOID:0110807	hereditary spastic paraplegia 55 Aliases: SPG55 autosomal recessive spastic paraplegia 55 autosomal recessive spastic paraplegia type 55	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)
DOID:0060260	ptosis Aliases: blepharoptosis drooping eyelid	ADPRS AGRN ALDOA ALG14 ALG2 ATP6V1A B3GLCT CHAT COLEC10 COLEC11 COMT DLAT DPAGT1 EBP ECHS1 GCK GFPT1 GMPPB HACD1 HS6ST1 IDS INPP5E MASP1 MTM1 MTMR14 NGLY1 PDHA1 PIGL PIGQ PLCB4 PTEN SC5D SDHA SDHD SGPL1 SLC17A5 SLC3A1 SMC3 SUCLA2 SYNJ1 TYMP	10584 10682 1103 1312 145173 1737 1798 1890 1892 199857 226 2645 26503 2673 29925 3423 375790 4534 5160 523 5332 54936 55768 5648 56623 5728 6309 6389 6392 64419 6519 78989 85365 8803 8867 8879 9091 9126 9200 9394 9487	Homo sapiens (human)
DOID:0060001	withdrawal disorder	COMT GAD1 GAD2 HTR2A	1312 2571 2572 3356	Homo sapiens (human)
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	ACAT1 ACE AKR1B1 APRT ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP3A4 CYP4F3 FASN FH G6PD HSD11B1 HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 PTGS2 SLC26A2 SLC33A1 SLC5A1 SMUG1	10159 1576 1583 1584 1585 1586 1588 1589 1636 1836 2194 2271 231 23583 2539 3283 3284 3290 3291 353 38 3958 4051 4952 5652 5743 6523 9197 9469 960	Homo sapiens (human)
DOID:8455	pyridoxine deficiency anemia Aliases: vitamin B6 deficiency syndrome	PIGV	55650	Homo sapiens (human)
DOID:192	sex cord-gonadal stromal tumor Aliases: Sex Cord-Stromal neoplasm Sex cord stromal tumour Specialized gonadal neoplasm Specialized gonadal tumor Specialized gonadal tumour sex cord-gonadal stromal tumour	CYP19A1 CYP2B6 LGALS3	1555 1588 3958	Homo sapiens (human)
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	CD44 G6PD GANC LMAN1 LPIN2 MAN2A1 MCFD2 MGAT2	2539 2595 3998 4124 4247 90411 960 9663	Homo sapiens (human)
DOID:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	GLB1 GM2A HEXA HEXB HEXD OGA UGT8	10724 2720 2760 284004 3073 3074 7368	Homo sapiens (human)
DOID:5691	visual cortex disease Aliases: visual cortex dysfunction	FDFT1 PIGP	2222 51227	Homo sapiens (human)
DOID:0110112	atrial heart septal defect 7 Aliases: ASD with or without atrioventricular conduction defects atrial septal defect 7, with or without AV conduction defects atrial septal defect-atrioventricular conduction defects syndrome	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:9938	dacryocystitis	ICAM1 LYZ	3383 4069	Homo sapiens (human)
DOID:14775	brittle cornea syndrome 1 Aliases: type VIB Ehlers-Danlos syndrome	CHST14	113189	Homo sapiens (human)
DOID:0111058	platelet-type bleeding disorder 12 Aliases: BDPLT12 PGHS1 deficiency platelet COX1 deficiency platelet cyclooxygenase 1 deficiency platelet prostaglandin-endoperoxide synthase 1 deficiency	PTGS1	5742	Homo sapiens (human)
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)
DOID:0080155	very long chain acyl-CoA dehydrogenase deficiency Aliases: VLCAD deficiency	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)
DOID:2273	vulvovaginitis Aliases: Vulvo-vaginitis	ABO CTNS GALNS GLA LYZ MBL2 PLB1 PSAP	1497 151056 2588 2717 28 4069 4153 5660	Homo sapiens (human)
DOID:0110590	autosomal dominant nonsyndromic deafness 69 Aliases: DCUA DFNA69 autosomal dominant deafness 69 unilateral or asymmetric congenital deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:2508	Takayasu's arteritis Aliases: Aortic arch arteritis Idiopathic aortitis Takayasu arteritis Takayasu's disease aortic arch syndrome	ABO ACE B3GAT1 CEL CHI3L1 CYP21A2 FCGR3B GBA3 GLA INPP4B KLRB1 MICA NAAA NT5E PARP9 PTEN SELP SLC27A5 SMUG1 TPI1 VCAM1	100507436 1056 10998 1116 1589 1636 2215 23583 27087 27163 2717 28 3820 4907 5728 57733 6403 7167 7412 83666 8821	Homo sapiens (human)
DOID:10582	Refsum disease Aliases: HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis Refsum's disease adult Refsum disease classic Refsum disease phytanic acid oxidase deficiency	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)
DOID:5353	colonic disease Aliases: colon disorder	FUT2	2524	Homo sapiens (human)

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