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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 **5651 - 5675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:205	hyperostosis Aliases: bone hypertrophy hypertrophy of bone	ALPL ANXA5 EBP EXT1 EXT2 GALNT3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	10682 2131 2132 249 2591 308 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:0110913	adult hypophosphatasia Aliases: mild hypophosphatasia	ALPL ALPP ATRNL1	249 250 26033	Homo sapiens (human)	DisGeNET DisGeNET 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:13200	substernal goiter Aliases: Retrosternal thyroid goiter Retrosternal thyroid goitre substernal goitre	ALPI ALPP CEACAM5 CYP1A1 GFRA1 HSD11B2 LGALS3 NCAM1 PTEN PTGS2 QPRT SMUG1	1048 1543 23475 23583 248 250 2674 3291 3958 4684 5728 5743	Homo sapiens (human)	DisGeNET
DOID:13198	endemic goiter Aliases: Iodine-deficiency-related endemic goitre simple goitre	ALPI ALPP CEACAM5 CYP1A1 GFRA1 HSD11B2 LGALS3 NCAM1 PTEN PTGS2 QPRT SMUG1	1048 1543 23475 23583 248 250 2674 3291 3958 4684 5728 5743	Homo sapiens (human)	DisGeNET
DOID:3247	rhabdomyosarcoma	ALPI ALPP CEACAM5 CEACAM7 CYP2B6 DAG1 ENO2 G6PD GLB1 GOLPH3 GPC3 GPC5 HPSE ICAM1 IL1R1 LARGE1 LGALS3 NANS NEU2 PARP1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 RGN SIRT2 SMUG1 ST8SIA2 ST8SIA4 SYNJ1	1048 10855 1087 142 1555 1605 2026 2262 22933 23583 248 250 2539 2719 2720 283871 3383 3554 3958 4759 5290 5291 5293 5294 54187 57104 5728 5743 64083 7903 8128 8867 9104 9215	Homo sapiens (human)	DisGeNET
DOID:0060706	X-linked lymphoproliferative syndrome 2 Aliases: XIAP deficiency XLP2	ALPI ALPP CD1D DPEP1 FUT1 HPGDS HPRT1 PLCG1	1800 248 250 2523 27306 3251 5335 912	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0070309	absence epilepsy	ALPI ALPP CACNA2D2 CANX PDIA3 PIGO PLCB4	248 250 2923 5332 821 84720 9254	Homo sapiens (human)	DisGeNET
DOID:1825	childhood absence epilepsy Aliases: petit mal seizure pyknolepsy	ALPI ALPP CACNA2D2 CANX NPY1R PDIA3 PIGO PLCB4 SLC2A1	248 250 2923 4886 5332 6513 821 84720 9254	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	ALPI ALPP B3GAT1 CACNA2D1 CD44 HK2 HSPG2 ICAM1 IDH1 LIPG MBD4 MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB4 PTEN SDHD SULF2 TNFRSF10C TPI1	100507436 142 248 250 27087 3099 3339 3383 3417 5290 5291 5293 5294 5332 55959 5728 6392 7167 781 8794 8930 9388 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:14227	azoospermia	ALPI ALPP ART3 CACNA2D1 CAT CD44 CYP19A1 DPY19L2 ELOVL6 FUT1 HJV HPGDS ISYNA1 MICA NDST1 NDST2 NDST3 NDST4 OCRL PARP2 PDHA2 PGD PGK2 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCH2 SCP2 SRD5A2 STS TEX101	10038 100507436 148738 1588 248 250 2523 27306 283417 3340 412 419 4952 51477 5161 5226 5232 5290 5291 5293 5294 5310 6342 64579 6716 781 79071 83639 847 8509 9348 960 9651	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:14261	fragile X syndrome Aliases: FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME	ALPI ALPP APRT ARSD CAT CD44 DGKK DLD G6PD HSPG2 ICAM5 IDS INPP5K LGALS4 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SDC2 ST8SIA4	139189 1738 248 250 2539 3339 3423 353 3960 414 51763 5226 5290 5291 5293 5294 5335 5728 6383 7087 7903 847 960	Homo sapiens (human)	DisGeNET
DOID:0040091	autoimmune pancreatitis	ALPI ALPP AMY2A ENO1 PKD1 SMUG1	2023 23583 248 250 279 5310	Homo sapiens (human)	DisGeNET
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	ALOX5	240	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060253	scapuloperoneal myopathy	ALOX5	240	Homo sapiens (human)	DisGeNET
DOID:2123	tularemia	ALOX5	240	Homo sapiens (human)	DisGeNET
DOID:10247	pleurisy	ALOX5 ICAM1 MTAP PIK3CG PLA2G10 PLA2G2A PLA2G6 PTGS2 TNF TPI1	240 3383 4507 5294 5320 5743 7124 7167 8398 8399	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4783	mesangial proliferative glomerulonephritis	ALOX5 DCN PIK3CA PIK3CB PIK3CD PIK3CG PKD1	1634 240 5290 5291 5293 5294 5310	Homo sapiens (human)	DisGeNET
DOID:680	tauopathy	ALOX5 CHI3L1 CYP46A1 GGT1 INPP5K OGA OGT PLA2G4A PRKAA2 PRNP PTGS2 SOAT1 SYNJ1	10724 10858 1116 240 2678 51763 5321 5563 5621 5743 6646 8473 8867	Homo sapiens (human)	DisGeNET
DOID:530	eyelid disease	ALOX5 CEACAM5 CYP27A1 EPHX2 G6PC1 GPC1 PTGS1 SLC37A4	1048 1593 2053 240 2538 2542 2817 5742	Homo sapiens (human)	DisGeNET
DOID:11269	chronic apical periodontitis	ALOX5 CD14 ICAM1 SIRT2 SIRT6	22933 240 3383 51548 929	Homo sapiens (human)	DisGeNET
DOID:823	periapical periodontitis Aliases: Apical periodontitis	ALOX5 CD14 ICAM1 SIRT2 SIRT6	22933 240 3383 51548 929	Homo sapiens (human)	DisGeNET
DOID:10459	common cold Aliases: Acute viral rhinopharyngitis Nasopharyngitis - acute Nasopharyngitis, acute acute coryza acute nasopharyngitis acute rhinitis rhino-sinusitis	ALOX5 CD14 CYP2C19 G6PD GPI HACD1 ICAM1 LYZ MBL2 PLAAT3 SDHD SELP SIGLEC1 SLC17A5	11145 1557 240 2539 26503 2821 3383 4069 4153 6392 6403 6614 9200 929	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1474	aggressive periodontitis Aliases: juvenile periodontitis	ALOX5 CD14 CYP1A1 DGKA FCGR3B GLT6D1 IL1R1 MBL2 MMP25 PAFAH1B1 PTGS2 SELE SIGLEC5 SMPD3 VCAM1	1543 1606 2215 240 3554 360203 4153 5048 55512 5743 6401 64386 7412 8778 929	Homo sapiens (human)	DisGeNET
DOID:9893	periodontosis	ALOX5 CD14 CYP1A1 DGKA FCGR3B GLT6D1 IL1R1 MBL2 MMP25 PAFAH1B1 PTGS2 SELE SIGLEC5 SMPD3 VCAM1	1543 1606 2215 240 3554 360203 4153 5048 55512 5743 6401 64386 7412 8778 929	Homo sapiens (human)	DisGeNET DisGeNET

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