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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 **3976 - 4000** of **4621** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:14265	pulmonary valve insufficiency Aliases: Pulmonic insufficiency Pulmonic valve regurgitation pulmonary incompetence pulmonary incompetence, non-rheumatic pulmonary insufficiency following trauma and surgery pulmonary regurg. pulmonary regurgitation	SFTPA1 SFTPA2 SFTPC	6440 653509 729238	Homo sapiens (human)
DOID:6420	pulmonary valve stenosis	ARSD B3GLCT B4GALT7 CHST3 CYP24A1 ENPP1 FKTN G6PC3 GALNT1 PIGQ PMM2 SMC3	11285 145173 1591 2218 2589 414 5167 5373 9091 9126 92579 9469	Homo sapiens (human)
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	ATF4	468	Homo sapiens (human)
DOID:11189	pulp degeneration	GALNT3	2591	Homo sapiens (human)
DOID:11121	pulpitis Aliases: pulp stones	IL18R1 IL1R1 SIRT6 TLR4	3554 51548 7099 8809	Homo sapiens (human)
DOID:0060362	punctate palmoplantar keratoderma type III Aliases: acrokeratoelastoidosis of Costa punctate palmoplantar hyperkeratosis type 3 punctate palmoplantar keratoderma type 3	MGAM SI	6476 8972	Homo sapiens (human)
DOID:1340	pure red-cell aplasia Aliases: Red cell hypoplasia primary red cell aplasia pure red cell aplasia	ABO CD38 CD44 CD55 CYP1A1 CYP2E1 DGKZ ECI2 GPI HPGDS PGK1 SULF2 VCAM1	10455 1543 1571 1604 27306 28 2821 5230 55959 7412 8525 952 960	Homo sapiens (human)
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP	4860	Homo sapiens (human)
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	APRT HPRT1 PNP UMPS	3251 353 4860 7372	Homo sapiens (human)
DOID:0060538	purpura fulminans Aliases: purpura gangrenosa	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5	26503 308 4153 4684 5091 5337 5648 6382 6402 78989 929	Homo sapiens (human)
DOID:3326	purpura Aliases: Purpuric disorder	CALR CAT COMT GLUL LYZ SMUG1	1312 23583 2752 4069 811 847	Homo sapiens (human)
DOID:4398	pustulosis of palm and sole Aliases: Acropustulosis Palmoplantar Pustulosis Pustular psoriasis of the palms and/or soles	ACACA ACE ACO1 ACOT8 ADH1B AKR1B10 AKR1C1 AKR1C3 ALDH2 ALOX12 ALOX15 ALOX15B APRT B3GNT2 B3GNTL1 BST2 CAT CD14 CD1D CD38 CD93 CDH13 CHI3L1 CHST8 CLC CLEC16A CLEC7A CNTN3 COG6 COMT CS CYP1A1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP3A4 DAG1 DLAT ELOVL6 FAM20B FCGR3B FCN2 FUT2 GAL3ST2 GAPDH GPX1 HPGDS HPSE ICAM1 ICAM5 IL18R1 IL1R1 IL1RAP IL1RL2 IPMK ISYNA1 ITLN1 KLRC1 LGALS1 LGALS3 LYNX1 LYZ MASP2 MBL2 MGAT5 MICA MRC1 MSMO1 NAGLU NANS NCAM1 NT5E OLR1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G7 PLB1 PLCD1 PSAP PTEN PTGS1 QTRT1 RENBP SDC1 SELE SELP SFTPD SLC17A5 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC2 ST6GAL1 STS SULF2 TNF UGT8 VCAM1 VNN1 VNN2 YDJC	10005 100507436 1012 10678 10747 10855 1116 1178 125 1312 142 1431 146712 150223 151056 1543 1555 1557 1571 1576 1591 1593 1594 1605 1636 1645 1737 217 2215 2220 22918 23274 23583 239 246 247 2524 253430 2597 26503 27306 2876 31 3383 353 3554 3556 3821 3956 3958 4069 412 4153 4249 4360 4669 4684 48 4907 4973 5067 51477 5290 5291 5293 5294 5310 5319 5320 5333 54187 55600 55959 5660 56848 57016 5728 5742 57511 5973 6307 6382 6401 6403 64090 64377 6441 64581 6480 66004 6646 684 7087 7124 7368 7412 79071 7941 81890 8399 847 8644 8808 8809 8875 8876 8877 912 929 9517 952 9917	Homo sapiens (human)
DOID:0080038	pycnodysostosis	NT5E	4907	Homo sapiens (human)
DOID:2744	pyelitis	ACE APRT CAT CYP2C9 DCN DHCR7 DPEP1 GLA HSPG2 IL18R1 PLA2R1 REG3G SDC1 SDC2 SFTPA1 SFTPA2 SFTPD SLC3A1 TM7SF2 UMOD	130120 1559 1634 1636 1717 1800 22925 2717 3339 353 6382 6383 6441 6519 653509 7108 729238 7369 847 8809	Homo sapiens (human)
DOID:11400	pyelonephritis	ACE APRT CAT CYP2C9 DCN DHCR7 DPEP1 GLA HSPG2 IL18R1 MMUT PLA2R1 REG3G SDC1 SDC2 SFTPA1 SFTPA2 SFTPD SLC3A1 TLR1 TM7SF2 UMOD	130120 1559 1634 1636 1717 1800 22925 2717 3339 353 4594 6382 6383 6441 6519 653509 7096 7108 729238 7369 847 8809	Homo sapiens (human)
DOID:12639	pyloric stenosis	ACSL4 AGPAT2 ALG13 FIG4 IL1RAPL1 MTM1 SLC2A10 SLC35A2 SMC3 TMTC3	10555 11141 160418 2182 4534 7355 79868 81031 9126 9896	Homo sapiens (human)
DOID:8553	pyoderma gangrenosum	SOAT1	6646	Homo sapiens (human)
DOID:4223	pyoderma	GALNS	2588	Homo sapiens (human)
DOID:5732	pyosalpinx Aliases: Pyosalpingitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
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)
DOID:8455	pyridoxine deficiency anemia Aliases: vitamin B6 deficiency syndrome	PIGV	55650	Homo sapiens (human)
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)
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)
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)
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)

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