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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 **1276 - 1300** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:5241	hemangioblastoma Aliases: Capillary Hemangioblastoma	FH LGALS3 PTEN SDHB SMUG1	2271 23583 3958 5728 6390	Homo sapiens (human)	DisGeNET
DOID:5230	hepatoerythropoietic porphyria	HPSE	10855	Homo sapiens (human)	DisGeNET
DOID:5223	infertility	ABO ACOT7 BAAT CD14 CD44 CYP17A1 EFNA5 GBA2 H6PD HJV HSD17B1 HSD17B3 KL PLCB1 PLCZ1	11332 148738 1586 1946 23236 28 3292 3293 570 57704 89869 929 9365 9563 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:5214	demyelinating polyneuropathy Aliases: peripheral demyelinating neuropathy	ACO2 ARSA FIG4 IDH1 IDH2 MAG MTMR2 PRNP PTGS2	3417 3418 4099 410 50 5621 5743 8898 9896	Homo sapiens (human)	DisGeNET
DOID:5213	chronic inflammatory demyelinating polyradiculoneuropathy	CNTN1 CNTN2 GBE1 HPRT1 MAG PTGS2	1272 2632 3251 4099 5743 6900	Homo sapiens (human)	DisGeNET
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	ATP6AP2 Alg1 Alg3 Pmm2 beta4GalNAcTA	36585 37754 39436 41104 42146	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	Alg1 Alg3 B4galt1 Pmm2	14595 208211 208624 54128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	alg1 alg3 b4galt1.1 b4galt1.2	100127746 100145518 549418 594994	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	alg1 alg3 b4galt1 b4galt1l	334161 550425 553725 768123	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	F52B11.2 algn-1 algn-3 bre-4	175065 175920 178364 190668	Caenorhabditis elegans	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	Alg1 Alg3 B4galt1	24390 287983 360475	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	ALG1 ALG3 SEC53	850499 852196 852407	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	AGA ALG11 ALG12 ALG13 ALG1 ALG1L2 ALG2 ALG3 ALG6 ALG8 ALG9 ALPI ALPP APRT ATP6AP1 ATP6AP2 ATP6V0A2 B4GALT1 CCDC115 COG2 COG5 COG6 COG7 COG8 DAG1 DCN DDOST DLD DPAGT1 FCSK FUT8 GOLPH3 GPI MAN1A1 MAN1B1 MGAM MGAT2 MOGS MPDU1 MPI PGAP1 PGAP3 PGM1 PGM3 PMM2 POFUT2 RFT1 RXYLT1 SI SLC35A1 SLC35A2 SLC35A3 SLC39A8 SRD5A3 ST3GAL3 STT3A STT3B TMEM165 TUSC3	10159 10195 10329 10466 10559 11253 1605 1634 1650 1738 175 1798 197258 201595 22796 23275 23443 23545 248 250 2530 2683 2821 29929 353 3703 4121 4247 4351 440138 5236 5238 537 5373 55858 56052 57511 64083 64116 644974 6476 6487 7355 7841 79053 79087 79644 79796 79868 7991 80055 84317 84342 85365 8972 91869 91949 93210 9526	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	b4galt1.1.L b4galt1.1.S b4galt1.2.L b4galt1.2.S	108706812 108706813 108712215 108712216	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	Fbp1	24362	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	FBP1	2203	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	FBP1	851092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	Fbp1	14121	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5200	urinary tract obstruction Aliases: Obstructive Uropathy urinary obstruction	ABO ACE AGXT ALG1 APRT CD14 CD248 CLEC7A EXT1 GRHPR HPSE2 ICAM1 MBL2 PCYT1B PNP PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPD SLC3A1 SRD5A2 UMOD	1636 189 2131 28 3383 353 4153 4860 56052 57124 5742 5743 60495 6441 64581 6519 653509 6716 729238 7369 929 9380 9468	Homo sapiens (human)	DisGeNET DisGeNET
DOID:520	aortic disease Aliases: aortic disorder disorder of the aorta	CAT PTDSS1 SULT1E1 VCAM1	6783 7412 847 9791	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5199	ureteral obstruction	KAR2	853418	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5199	ureteral obstruction	Akt1 Tnf	11651 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5199	ureteral obstruction	ACE AKT1 ATP6AP2 CALR CAT CBR1 CD44 CYP2J2 GPNMB GRHPR HPGDS HSD11B2 ICAM1 IL1RL1 ISYNA1 KL LGALS3 LYZ PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PRKAA2 PTGDS PTGES PTGS2 SDC4 SOAT1 SPHK1 SPHK2 TNF VCAM1 VNN1	10159 10457 142 1573 1636 207 27306 3291 3383 3958 4069 51477 5290 5291 5293 5294 5321 5563 56848 5730 5743 6385 6646 7124 7412 811 847 873 8876 8877 9173 9365 9380 9536 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:5199	ureteral obstruction	parp-1	266823	Caenorhabditis elegans	Alliance of Genome Resources
DOID:5199	ureteral obstruction	parp1	560788	Danio rerio (zebrafish)	Alliance of Genome Resources

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