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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 **6926 - 6950** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:1425	pyoureter Aliases: Ureter abscess	ABO ACACA ACACB ACE ACSL1 AGPAT2 AKR1B1 ALG1 ALOX12 ALPL APRT ARSA ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CDH13 CEL CHI3L1 CHIT1 CLC CNTN3 COLEC11 CTNS CYP19A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP3A5 DCN DDOST DGKE ELOVL5 ENO1 ENO2 ENPP1 FADS2 FAR2 FMOD G6PC1 G6PD GAD1 GAD2 GAS1 GCK GFPT1 GLA GLO1 GPX3 HAS2 HAS3 HPRT1 HSD11B2 HSPG2 ICAM1 IL1R1 INPP5D INPP5E KL LCAT LGALS3 LIPC LYZ MASP2 MBL2 MDH2 MLYCD NAGLU NAMPT NCAM1 NDST1 OGA PAFAH1B1 PARP1 PC PIK3CG PKD1 PKD2 PLA2G2A PLA2R1 PLAUR PLB1 PRKAA2 PTEN PTGDS PTGES PTGS1 PTGS2 RENBP RGN SACM1L SCD SDC1 SDC2 SDC4 SELE SELL SFTPD SIGLEC1 SIRT6 SLC17A5 SLC2A2 SLC33A1 SLC37A4 SLC5A1 SMPDL3B SOAT1 SORD STS SULT1E1 TM7SF2 TREH UGT2B17 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	1012 10135 10159 10555 1056 10724 10747 1116 1118 11181 1178 142 1462 1497 151056 1555 1557 1558 1559 1571 1577 1588 1591 1594 1634 1636 1650 2023 2026 2180 22908 22925 231 2331 23417 239 249 2538 2539 2542 2571 2572 2619 2645 26503 2673 2717 27293 2739 28 2878 29071 3037 3038 31 32 3251 3291 3339 3340 3383 353 3554 3635 3931 3958 3990 4069 410 412 4153 4191 4669 4684 5048 5067 5091 51548 5167 5294 5310 5311 5320 5329 5563 55711 56052 56623 56913 5728 5730 5742 5743 5973 60481 6319 6382 6383 6385 6401 6402 64131 64132 6441 6514 6523 6614 6646 6652 6783 7108 7367 7369 7412 78989 79679 811 847 8526 9104 9197 9365 9415 9536	Homo sapiens (human)	DisGeNET
DOID:8455	pyridoxine deficiency anemia Aliases: vitamin B6 deficiency syndrome	PIGV	55650	Homo sapiens (human)	DisGeNET
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:3651	pyruvate carboxylase deficiency disease Aliases: deficiency of pyruvic carboxylase	ACE CHPT1 DHDDS DLAT DLD ECHS1 OGDH PC PCK1 PCK2 PDHA1 PDHA2 PDHB PDHX	1636 1737 1738 1892 4967 5091 5105 5106 5160 5161 5162 56994 79947 8050	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3651	pyruvate carboxylase deficiency disease Aliases: deficiency of pyruvic carboxylase	PYC1 PYC2	852519 852818	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3651	pyruvate carboxylase deficiency disease Aliases: deficiency of pyruvic carboxylase	Pc	25104	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	Dlat Pdha1 Pdha2 Pdhb	18597 18598 235339 68263	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	Dlat Pdha2 Pdhb	117098 289950 81654	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	ACE CHPT1 DHDDS DLAT DLD ECHS1 OGDH PC PCK1 PCK2 PDHA1 PDHA2 PDHB PDHX	1636 1737 1738 1892 4967 5091 5105 5106 5160 5161 5162 56994 79947 8050	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	Pklr	24651	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	PyK	42620	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	PYK2	854529	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	G6PD HK1 PKLR	2539 3098 5313	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:12835	quadriplegia Aliases: tetraplegia	ALDH3A2 ARSA COG2 COLGALT1 CYB5R3 DEGS1 ELOVL4 FUCA1 GAD1 GBE1 GLB1 GLYCTK PDHX PLA2G6 PNP POMT1 PRPS1 RPE ST3GAL5 SYNJ1	10585 132158 1727 224 22796 2517 2571 2632 2720 410 4860 5631 6120 6785 79709 8050 8398 8560 8867 8869	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:11125	qualitative platelet defect Aliases: Qualitative platelet deficiency	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 PRNP SELP VCAM1 XYLT1	10855 1738 27163 3956 3964 4669 5319 5320 5621 60495 6403 64083 64131 7412 8398	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:11260	rabies Aliases: Lyssa	CH25H CYP1A2 CYP2C9 CYP3A4 ENOSF1 FUT2 GAS1 HPSE MTM1 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1C SOAT1	10855 1544 1559 1576 23396 2524 2619 4534 5290 5291 5293 5294 55556 6646 9023	Homo sapiens (human)	DisGeNET
DOID:12170	radial nerve lesion Aliases: Lesion of radial nerve Radial nerve lesions	PRNP	5621	Homo sapiens (human)	DisGeNET
DOID:12171	radial neuropathy	PRNP	5621	Homo sapiens (human)	DisGeNET
DOID:4306	radiculopathy Aliases: pinched nerve	Tnf	21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4306	radiculopathy Aliases: pinched nerve	APRT TNF	353 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4306	radiculopathy Aliases: pinched nerve	Tnf	24835	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9827	radioulnar synostosis	ALDH2 B3GAT3 B4GALT7 CHST3 COLEC10 COLEC11 EXT1 EXT2 HSPG2 MASP1 PIK3CA PRKAA2 SMC3 UMOD XYLT1	10584 11285 2131 2132 217 26229 3339 5290 5563 5648 64131 7369 78989 9126 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4776	rapidly progressive glomerulonephritis	ABO ACE CD44 DCN FCGR3B ICAM1 MRC1 VCAM1	1634 1636 2215 28 3383 4360 7412 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:6196	reactive arthritis Aliases: Fiessinger Leroy Reiter syndrome Post-bacterial arthropathy Reiter disease Reiter's disease postdysenteric arthropathy	CYP1A1 PTGS2	1543 5743	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060642	recessive dystrophic epidermolysis bullosa Aliases: RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type	CAT CD44 DCN PIK3CA PIK3CB PIK3CD PIK3CG STS	1634 412 5290 5291 5293 5294 847 960	Homo sapiens (human)	DisGeNET DisGeNET

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