GlyCosmos Portal

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

Displaying entries **6701 - 6725** of **7942** in total

« First

‹ Prev

…

265

266

267

268

269

270

271

272

273

…

Next ›

Last »
Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:9277	primary cerebellar degeneration	CEACAM5 FASN GAD1 HSD17B4 IDH2 INPP5K MBD4 MRC1 PARP1 PIK3CA PRNP PTEN PTGES PTGS2 SULF1 VCAM1	1048 142 2194 23213 2571 3295 3418 4360 51763 5290 5621 5728 5743 7412 8930 9536	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110594	primary ciliary dyskinesia 1 Aliases: CILD1 primary ciliary dyskinesia 1 with or without situs inversus	AKR1C4 CEL ICAM1 INPP5E MBL2 NCAM1 NT5E NTM PARP9 PNPLA2 SCD5 SDC1 SLC27A5	1056 10998 1109 3383 4153 4684 4907 50863 56623 57104 6382 79966 83666	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9562	primary ciliary dyskinesia Aliases: ciliary motility disorder immotile ciliary syndrome	AKR1C4 CEL ICAM1 INPP5E MBL2 NCAM1 NT5E NTM PARP9 PNPLA2 SCD5 SDC1 SLC27A5	1056 10998 1109 3383 4153 4684 4907 50863 56623 57104 6382 79966 83666	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	Coq2	498332	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	Coq2	71883	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	COQ2	27235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma Aliases: cutaneous T cell lymphoma cutaneous T-cell lymphoma	ANXA5 CD22 CD44 CHI3L1 CNTN2 LGALS1 LGALS9 MBL2 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCG1 PTEN PTGS2 SDC4 SELL SIRT2 SOAT1 TIGAR	1116 22933 308 3956 3965 4153 4507 4684 5290 5291 5293 5294 5315 5335 57103 5728 5743 6385 6402 6646 6900 933 960	Homo sapiens (human)	DisGeNET
DOID:0050639	primary cutaneous amyloidosis Aliases: PCA familial primary localized cutaneous amyloidosis	AKR1C2 AMACR CACNA2D2 CERS2 CYP1B1 ENO2 HPGDS HSD3B1 ICAM1 IL18R1 INPP5D ISYNA1 PARP1 PKM PRNP PTEN PTGS2 SLC35A2 SRD5A1 UGT2B17 UGT2B28 XPNPEP2	142 1545 1646 2026 23600 27306 29956 3283 3383 3635 51477 5315 54490 5621 5728 5743 6715 7355 7367 7512 8809 9254	Homo sapiens (human)	DisGeNET
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	CYP17A1	1586	Homo sapiens (human)	DisGeNET
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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111670	primary hyperoxaluria type 1 Aliases: HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency	AGXT	189	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111671	primary hyperoxaluria type 2 Aliases: D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II	GRHPR	9380	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111672	primary hyperoxaluria type 3 Aliases: HP3 PH III primary hyperoxaluria type III	HOGA1	112817	Homo sapiens (human)	Alliance of Genome Resources
DOID:2977	primary hyperoxaluria	AGXT APRT CRYL1 GLYCTK GRHPR H6PD HAO1 HAO2 HOGA1 SMUG1 SULT1E1 UGDH	112817 132158 189 23583 353 51084 51179 54363 6783 7358 9380 9563	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11202	primary hyperparathyroidism Aliases: familial primary hyperparathyroidism	ACE ALPP APRT ATRNL1 CYP19A1 KL MCAT PTGS2 SDHC	1588 1636 250 26033 27349 353 5743 6391 9365	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	ACSS2 CBR1 PTGS2	55902 5743 873	Homo sapiens (human)	DisGeNET DisGeNET
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	Ostgamma Tl	34137 43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	Oas1a Tlr4	192281 29260	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	Il6st Tlr1 Tlr2 Tlr4 Tlr6	16195 21897 21898 21899 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	OST3	854252	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	ACSBG1 AGL AGPAT2 AKR1B10 APRT ARSA BST2 CALR CD14 CD33 CD38 CD44 CEACAM5 CLEC16A CLEC9A CMAS COG6 COMT CYP2B6 DLD FASN FCN2 FCN3 G6PC3 G6PD GAA GLB1 GPC3 GPI HPSE HSD17B7 ICAM1 IDH1 IL18R1 IL6ST KLRD1 LGALS1 LGALS3 MAN2B2 MBL2 MICA MLYCD MMUT NT5E OAS1 PARP1 PGM3 PIGQ PIK3CA PIK3CB PIK3CD PIK3CG PLD1 PNP PPT1 PRPS1 PTEN PTGS1 PTGS2 SCD5 SDC1 SOAT1 ST6GAL1 ST8SIA1 TLR4 UNG VTCN1	100507436 1048 10555 10855 1312 142 1555 1738 178 2194 2220 23205 23274 23324 23417 2539 2548 2719 2720 2821 283420 3383 3417 353 3572 3824 3956 3958 410 4153 4594 4860 4907 4938 51478 5238 5290 5291 5293 5294 5337 5538 55907 5631 57016 5728 5742 5743 57511 6382 6480 6489 6646 684 7099 7374 79679 79966 811 8547 8809 9091 92579 929 945 952 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	GPNMB	10457	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080210	primary mediastinal B-cell lymphoma Aliases: Large cell lymphoma of the mediastinum Mediastinal diffuse large-cell lymphoma with sclerosis Primary mediastinal clear cell lymphoma of B-cell type	FCER2 FUT4 PIK3CA PIK3CB PIK3CD PIK3CG	2208 2526 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:1070	primary open angle glaucoma Aliases: chronic simple glaucoma	ABO ACE ACOT7 ADIPOQ AKR1B1 ANXA5 ARSD B4GALT3 CACNA2D1 CAT CD38 CNTN4 CYP1A1 CYP1B1 CYP27A1 CYP2C19 CYP46A1 DCN DGKD ELOVL5 GALC GAS1 GLB1 GLUL GMDS HAS2 HK2 HPGDS IDH3A MBL2 MUTYH NTM OGG1 PARP1 PLA2G4A PLB1 PLCE1 PMM2 PRNP PTEN PTGS1 PTGS2 SOAT1 SULT1E1 TLR4 TMTC2 TNF TP53	10858 11332 142 151056 152330 1543 1545 1557 1593 160335 1634 1636 231 2581 2619 2720 27306 2752 2762 28 3037 308 3099 3419 414 4153 4595 4968 50863 51196 5321 5373 5621 5728 5742 5743 60481 6646 6783 7099 7124 7157 781 847 8527 8703 9370 952	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1070	primary open angle glaucoma Aliases: chronic simple glaucoma	Ogg1 Tl	31806 43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements