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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 **4726 - 4750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:4817	ganglioneuroma	CD44 CS LGALS3 NCAM1 PTEN SDHC SIGLEC7	1431 27036 3958 4684 5728 6391 960	Homo sapiens (human)	DisGeNET
DOID:668	myositis ossificans Aliases: Myisitis ossificans Ossification - muscle	APRT CD14 COMT DPEP1 ENPP2 GPC1 SDC2 SDC4	1312 1800 2817 353 5168 6383 6385 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4769	pleuropulmonary blastoma	NCAM1	4684	Homo sapiens (human)	DisGeNET
DOID:0070115	Meckel syndrome 1 Aliases: MKS1 Meckel-Gruber syndrome, type 1	ALDH1A3 ALG8 ALG9 ARF4 INPP5E PKD1 PKD2 PTGDS UMOD	220 378 5310 5311 56623 5730 7369 79053 79796	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3279	spindle cell thymoma Aliases: Medullary Thymoma Thymoma, medullary	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0070459	hereditary spastic paraplegia 90A Aliases: SPG90A autosomal dominant spastic paraplegia 90A	SPTSSA	171546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	ACACA CD44 CHGA CMAS CNTN4 DLST ENO2 FH GUSB IDH1 IDH2 MDH2 PARP1 PTEN PTGS2 SDHA SDHB SDHC SDHD SLC25A11 SMUG1 SORD TYMP VCAM1	1113 142 152330 1743 1890 2026 2271 23583 2990 31 3417 3418 4191 55907 5728 5743 6389 6390 6391 6392 6652 7412 8402 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0081183	autosomal recessive intellectual developmental disorder 7	TUSC3	7991	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111898	CK syndrome Aliases: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	NSDHL	50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:930	orbital disease	ACHE ALG1 ALG9 ALPL B3GALT6 B4GALT7 COG4 EFNA5 FIG4 HAS2 ICAM1 PTEN SMUG1 UGDH XYLT1	11285 126792 1946 23583 249 25839 3037 3383 43 56052 5728 64131 7358 79796 9896	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11695	portal vein thrombosis	CHI3L1 NAAA PC PIGM SELP SLC17A5 SMUG1	1116 23583 26503 27163 5091 6403 93183	Homo sapiens (human)	DisGeNET
DOID:11130	secondary hypertension	SLC33A1	9197	Homo sapiens (human)	DisGeNET
DOID:8368	chordoid meningioma Aliases: meningioma, chordoid	PTEN	5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	INPPL1 LRP5	3636 4041	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	ACE ACHE AGK AGRN AKR1C2 ALDH1A3 ALOX12B ALOX5 AMACR ANXA4 ANXA5 APRT B4GALNT3 BRAF CAT CD38 CD44 CD74 CEMIP CERS1 CERS2 CHI3L1 CPT1C CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2R1 DCN DHCR24 EBP ELOVL2 ENPP2 FASN FCER2 FCGR3B FH FUCA1 FUT4 G6PD GAPDH GAS1 GGT1 GLA GPC3 GPI GPNMB GPX3 GUSB HK2 HPGDS HPRT1 HPSE ICAM1 IDH1 IL1R1 INPP4B INPPL1 KLB L1CAM LDHA LDHB LGALS1 LGALS3 LMAN2L MCAT MINPP1 MMUT MRC1 NCAM1 NT5E OGG1 PARG PARP1 PC PCYT1A PDHB PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G6 PLD2 PRKAA2 PTEN PTGDS PTGES3 PTGES PTGIS PTGS2 RECK RPIA SCD SDC4 SDHB SELE SELL SHMT1 SIRT6 SLC2A3 SMUG1 SPHK1 SPHK2 TKTL1 TM7SF2 TP53 TPI1 TYMP UGCG	10457 10682 10715 10728 10855 1116 120227 126129 142 152831 1543 1588 1591 1594 1634 1636 1646 1718 1890 2194 220 2208 2215 2271 22934 23583 23600 240 242 2517 2526 2539 2597 2619 2678 2717 2719 27306 27349 2821 283358 2878 2990 29956 307 308 3099 3251 3383 3417 353 3554 3636 375790 3897 3939 3945 3956 3958 43 4360 4594 4684 4907 4968 5091 5130 51548 5162 5168 5230 5236 5290 5291 5293 5294 5315 5319 5320 5338 54898 5563 55750 56848 57214 5728 5730 5740 5743 6319 6385 6390 6401 6402 6470 6515 673 7108 7157 7167 7357 81562 8277 8398 8434 847 8505 8821 8877 952 9536 9562 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060535	Warsaw breakage syndrome Aliases: WABS	PARP1	142	Homo sapiens (human)	DisGeNET
DOID:11554	Chandler syndrome Aliases: Chandler's syndrome Dystrophy of corneal endothelium Endothelial corneal dystrophy Posterior membrane corneal dystrophy	NEIL1 PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294 79661	Homo sapiens (human)	DisGeNET
DOID:0060178	familial hemiplegic migraine	ATP1A2 DPEP1 PMM2 PRKCSH	1800 477 5373 5589	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:10892	hypospadias Aliases: familial hypospadias	ALG12 ARSD B3GLCT CD44 COG1 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP21A2 CYP27B1 DGKK DHCR7 DHRS11 FIG4 HSD17B3 HSD17B7 HSD3B2 LFNG OGT PIGN PIK3CA PIK3CB PIK3CG PLA2G15 PTDSS1 SMC3 SRD5A1 SRD5A2	1312 139189 145173 1543 1545 1583 1586 1588 1589 1594 1717 23556 23659 3284 3293 3955 414 51478 5290 5291 5294 6715 6716 79087 79154 8473 9126 9382 960 9791 9896	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:615	leukopenia Aliases: Leucopenia	ABO ADH1B AKR1B1 ALDH2 ATP6AP1 B3GAT1 CAT CD177 CD33 CEL CHPT1 CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A4 CYP3A5 DCTD DHDDS EOGT FASN FCGR3B FH G6PC1 G6PC3 GBA1 HMGCL HMMR HPGDS HPRT1 ICAM1 IDUA LPIN2 MBL2 MMUT NAAA NCAM1 PARP1 PARP9 PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SELE SELL SELP SFTPD SLC17A5 SLC27A5 SLC35A2 SLC37A4 SUCLA2 TMTC3 TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMPS	1056 10998 125 142 1543 1545 1555 1557 1558 1559 1576 1577 160418 1635 217 2194 2215 2271 231 2538 2542 2629 26503 27087 27163 27306 28 285203 3155 3161 3251 3383 3425 4153 4594 4684 51302 5286 5290 5291 5293 5294 537 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 5743 6401 6402 6403 6441 7355 7364 7372 79947 83666 847 8794 8803 92579 945 9663	Homo sapiens (human)	DisGeNET
DOID:0060604	ankyloglossia Aliases: tongue-tie	EBP	10682	Homo sapiens (human)	DisGeNET
DOID:8683	myeloid sarcoma Aliases: Chloroma Extramedullary Myeloid tumor Granulocytic sarcoma	CD33 LYZ NCAM1 OGG1	4069 4684 4968 945	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110159	Charcot-Marie-Tooth disease type 2B Aliases: CMT2B Charcot-Marie-Tooth neuropathy type 2B HMSN IIB HMSN2B autosomal dominant Charcot-Marie-Tooth disease type 2B hereditary motor and sensory nueropathy IIB	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060890	ectopic Cushing syndrome Aliases: Cushing syndrome due to ectopic ACTH secretion ectopic ACTH secreting tumor	HSD11B2 SMUG1	23583 3291	Homo sapiens (human)	DisGeNET
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	RPE	6120	Homo sapiens (human)	DisGeNET

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