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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **226 - 250** of **5716** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0060075	estrogen-receptor positive breast cancer	ADAM28 PIK3CA	10863 5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:4483	rhinitis	ADAM33 BDKRB2 BDNF CCL24 CCR2 CCR3 CD14 CYSLTR1 HLA-DQA1 HLA-DQB1 IL13 IL17A IL1RN IL23R IL2 IL4R LEP MBL2 NOD2 SERPINE1 SFTPD TAP1 TLR2 TLR6 TNF	10333 10800 1232 149233 3117 3119 3557 3558 3566 3596 3605 3952 4153 5054 624 627 6369 64127 6441 6890 7097 7124 729230 80332 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111020	cone-rod dystrophy 9 Aliases: CORD9	ADAM9	8754	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	ADAMTS10 ADAMTS17 FBN1 LTBP2	170691 2200 4053 81794	Homo sapiens (human)	Alliance of Genome Resources
DOID:10772	thrombotic thrombocytopenic purpura Aliases: Moschcowitz's syndrome	ADAMTS13 HLA-DQB1	11093 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:2378	relapsing-remitting multiple sclerosis Aliases: RRMS Relapsing-remitting MS	ADAMTS14 CSPG4 FAS NOD2	140766 1464 355 64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	ADAMTS14 GRN HLA-DQB1 HLA-DRB1 IL4R	140766 2896 3119 3123 3566	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	ADAMTS15 MET	170689 4233	Homo sapiens (human)	Alliance of Genome Resources
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	ADAMTS19 CRIPTO FOXP1 GATA4 GDF1 GPX3 JAG1 LEFTY2 MYH7 NFATC1 NOTCH1 RBFOX2 RFC1 SP4 TAB2 TLL1 VEGFA	171019 182 23118 23543 2626 2657 27086 2878 4625 4772 4851 5981 6671 6997 7044 7092 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ADAMTS2 B4GALT7 COL1A2 COL3A1 COL5A1 COL5A2 LOX TNXB	11285 1278 1281 1289 1290 4015 7148 9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type	ADAMTS2	9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060366	Hennekam syndrome Aliases: Hennekam lymphangiectasia-lymphedema syndrome lymphedem-lymphangiectasia-intellectual disability syndrome	ADAMTS3 CCBE1 FAT4	147372 79633 9508	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111725	geleophysic dysplasia 1 Aliases: GPHYSD1	ADAMTSL2	9719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111648	ectopia lentis with ectopia of pupil Aliases: ectopia lentis et pupillae	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111149	autosomal recessive isolated ectopia lentis 2 Aliases: ECTOL2	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:11166	Human papillomavirus infectious disease Aliases: HPV	ADAR FGFR3 HLA-DPB1 HLA-DRB1	103 2261 3115 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050629	Aicardi-Goutieres syndrome Aliases: AGS Cree encephalitis	ADAR SAMHD1	103 25939	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060257	dyschromatosis symmetrica hereditaria Aliases: reticulate acropigmentation of Dohi	ADAR	103	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110501	autosomal recessive nonsyndromic deafness 44 Aliases: DFNB44 autosomal recessive deafness 44	ADCY1	107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	ADCY6 ADGRG6 CNTNAP1 DNM2 GLDN NEK9	112 1785 342035 57211 8506 91754	Homo sapiens (human)	Alliance of Genome Resources
DOID:1936	atherosclerosis	ADD1 ADIPOQ APOA1 APOE CLU COL4A2 FCGR2A HSPA1A MMP1 NOS3 NPPB PLA2G7 PON1 PON3 VIM	118 1191 1284 2212 3303 335 348 4312 4846 4879 5444 5446 7431 7941 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:10825	essential hypertension Aliases: idiopathic hypertension primary hypertension	ADD1 AGTR1 ATP1B1 ATP2A2 CAT CYP3A5 ECE1 FTO HSD11B1 NOS3 NPR2 PTGIS PTPN1 REN SLC12A3	118 1577 185 1889 3290 481 4846 488 4882 5740 5770 5972 6559 79068 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	ADD1 APOC3 APOE HNF4A LIPC LPL	118 3172 345 348 3990 4023	Homo sapiens (human)	Alliance of Genome Resources
DOID:11044	gastroschisis	ADD1	118	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081361	spastic quadriplegic cerebral palsy 3 Aliases: CPSQ3	ADD3	120	Homo sapiens (human)	Alliance of Genome Resources

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