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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4401 - 4425** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0050858	Marshall-Smith syndrome	NFIX	4784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050857	Perrault syndrome	HSD17B4 LARS2	23395 3295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050856	oppositional defiant disorder	AR	367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050855	renal fibrosis	ACE ADAM17 AGER CLU CYBB CYP2J2 ECE1 EDNRA ENG FCAR GFER GPR21 GPR52 IFNG KRAS LEPR MMP1 MMP9 PPARGC1A SERPINE1 STAT6 TLR2 TLR4	10891 1191 1536 1573 1636 177 1889 1909 2022 2204 2671 2844 3458 3845 3953 4312 4318 5054 6778 6868 7097 7099 9293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050854	Muckle-Wells syndrome Aliases: MWS neutrophilic urticaria	IL1RN	3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050853	chronic venous insufficiency	CAT PECAM1	5175 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050852	limb ischemia	CS CSF3 DLL4 EPO FGFR1 HGF HIF1A ITGAM NOS3 PTGIS VEGFA	1431 1440 2056 2260 3082 3091 3684 4846 54567 5740 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050851	glomerulosclerosis	ACE AGTR1 AGTR2 APOE COL3A1 HBEGF INF2 MMP1 MMP9 PLA2G7 PLEKHA7 PPARG SERPINE1 SHC1 SPP1	1281 144100 1636 1839 185 186 348 4312 4318 5054 5468 64423 6464 6696 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050850	diabetic encephalopathy	AGER APP GSK3B NGFR PPARG	177 2932 351 4804 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	ABCB1 ACE ADORA1 ADRB1 BDNF BMP7 CCL2 CCL5 CYSLTR1 CYSLTR2 EDN1 EDNRA GHRL GHSR HP ICAM1 IL10 IL6 LEP LEPR MMP9 MUC1 NGF NOS2 NOS3 NR3C1 NRG1 NTRK1 PLA2G7 PTGS2 RELA SERPINE1 SFTPB SLC6A4 TNF TNFRSF1A	10800 134 153 1636 1906 1909 2693 2908 3084 3240 3383 3569 3586 3952 3953 4318 4582 4803 4843 4846 4914 5054 51738 5243 57105 5743 5970 627 6347 6352 6439 6532 655 7124 7132 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050847	sleep apnea	ADIPOQ IL6R LEPR SERPINE1 TBP	3570 3953 5054 6908 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050840	cervical dystonia Aliases: spasmodic torticollis	HLA-DQB1	3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050836	focal dystonia	TOR1A	1861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	CHD2 CHD6 CHD7 CHD8 CHD9 SEMA3E TP53	1106 55636 57680 7157 80205 84181 9723	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050833	orotic aciduria	CAD UMPS	7372 790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050831	familial encephalopathy with neuroserpin inclusion bodies Aliases: FENIB	SERPINB7 SERPINE1 SERPINE2 SERPINI1 SERPINI2	5054 5270 5274 5276 8710	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050830	peripheral artery disease	ADIPOQ B2M CCN1 NPY1R NPY2R NPY5R P2RY12 SERPINE1	3491 4886 4887 4889 5054 567 64805 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	ACTA2 BAX CD209 CD36 COL1A1 COL3A1 GAPDH HLA-DQA1 HLA-DQB1 HLA-DRB1 IL10 INHBA LEF1 MMP9 SNAI1 TWIST1 ZEB1	1277 1281 2597 30835 3117 3119 3123 3586 3624 4318 51176 581 59 6615 6935 7291 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050824	sinoatrial node disease Aliases: SA node sinuatrial node	ANK2	287	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050820	atrioventricular block Aliases: AV block	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	ABCA4 ELOVL4	24 6785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 LRIG2	60495 9860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POR REN	1583 1584 1585 1586 1589 5447 5972	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050809	mucopolysaccharidosis IX	HYAL1	3373	Homo sapiens (human)	Alliance of Genome Resources

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