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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 **9376 - 9400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:5773	oral submucous fibrosis Aliases: Oral cavity Submucous Fibrosis Oral submucosal fibrosis Oral submucosal fibrosis, including of tongue	Tgfb1 Trp53	21803 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8929	atrophic gastritis Aliases: gastric atrophy	nkb-1	182726	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050857	Perrault syndrome	HSD17B4 LARS2	23395 3295	Homo sapiens (human)	Alliance of Genome Resources
DOID:13025	retinopathy of prematurity Aliases: Retrolental fibroplasia premature retinopathy	notch1	100037842	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060251	sclerosteosis	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080679	neuronal intestinal dysplasia type A	let-23	174462	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060791	hypomyelinating leukodystrophy 9 Aliases: HLD9 RARS-related autosomal recessive hypomyelinating leukodystrophy	Rars1	104458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4751	striatonigral degeneration	Nup62	36830	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111025	cone-rod dystrophy 19 Aliases: CORD19	TTLL5	23093	Homo sapiens (human)	Alliance of Genome Resources
DOID:14671	multiple intestinal atresia Aliases: GIDID Multiple gastrointestinal atresias familial intestinal polyatresia syndrome gastrointestinal defects and immunodeficiency syndrome	TTC7A	57217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)	Alliance of Genome Resources
DOID:8991	cervix uteri carcinoma in situ Aliases: CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis Cervix Ca in situ Severe Dysplasia of the Cervix Uteri Severe dysplasia of cervix carcinoma in situ of cervix carcinoma in situ of uterine cervix carcinoma of cervix stage 0 cervical intraepithelial neoplasia grade III with severe dysplasia squamous intraepithelial neoplasia, grade III	cdh1.S	100337618	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:5844	myocardial infarction Aliases: Myocardial infarct heart attack	Ace2 Ace Adamts1 Add1 Adrb1 Agt Agtr1a Agtr1b Ahsg Akt1 Aldh2 Angpt1 Angpt2 Atp5f1d Avpr1a Bdkrb1 Bdkrb2 Brinp3 C3 C8b Casr Ccl2 Cd14 Cd40lg Cd59b Cdkn1b Chi3l1 Clu Col1a1 Col3a1 Crp Cs Csf2 Csnk2a1 Dab2 Dcn Ednra Ednrb Ephb1 Epo Erbb4 Esr1 F12 F13a1 F7 Fgb Fzd2 G6pd Gclc Gsk3b Hadh Hfe Hgf Hmgb1 Hp Hspd1 Icam1 Igf1r Il10 Il4r Inhba Itgb1 Itgb3 Kcnk2 Kdr Klk1 Klk1b3 Klk1c10 Klk1c2 Klk1c9 Lamp2 Lcat Lipg Lpl Lrp1 Lrpap1 Lta Map3k7 Mdh2 Mlxipl Mmp2 Mmp9 Ncam1 Nfe2l2 Ngf Nos3 Npr1 Olr1 Oprd1 Oprk1 Pcsk2 Pdgfd Pecam1 Pgf Plat Plaur Pln Pon1 Ppara Ppargc1a Proc Psma6 Ptgs2 Rbp4 Reg1a Ren Rps6kb1 Sdc1 Sdc4 Selp Serpine1 Shh Sod2 Sod3 Sparc Spp1 Tfpi Tgfb1 Tgfb2 Tgfbr1 Tgfbr2 Tlr4 Tnc Tnf Tnfrsf11b Tnfrsf1a Tnfrsf1b Tnfsf11 Tnfsf4 Tnnt2 Trpv1 Uts2r Vcan Vdac2 Vegfa	113965 114122 116549 116565 116630 116640 117516 140914 156767 170587 170899 171078 24170 24179 24180 24185 24232 24247 24310 24326 24335 24338 24366 24377 24446 24464 24511 24523 24530 24539 24586 24594 245965 24600 24603 24613 24617 24714 24715 24770 24771 24787 24791 24835 24837 24841 24854 24890 24925 24944 25008 25084 25107 25121 25216 25245 25268 25283 25325 25341 25352 25353 25373 25407 25419 25459 25464 25589 25625 25651 25692 25703 25718 25747 260320 286901 29139 291437 29199 29200 29260 292858 292868 29302 29335 29393 29436 29499 29527 29539 29583 29591 29673 299858 302668 306761 310738 313121 313421 50672 50692 57305 59086 59323 60327 60350 63868 64512 64672 66018 79128 79252 81509 81638 81686 81687 81809 81810 81829 83516 83531 83571 83619 83785 83810 83840 84024 84027 84032 84349 89805 89807 89814 89824 94203	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	AKT1 CTNNA1 CYP1A1 CYP24A1 GPX3 IL10 IL1R2 IL5 LZTS1 MXI1 MYD88 PIK3CA PTEN TNFAIP3 XRCC1	11178 1495 1543 1591 207 2878 3567 3586 4601 4615 5290 5728 7128 7515 7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080953	amelogenesis imperfecta type 1J Aliases: Amelogenesis imperfecta, type IJ	pho-5 pho-7 pho-8	176030 179621 188683	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	IGF2 IGFALS IGFBP3 PMM1 PMM2	3481 3483 3486 5372 5373	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081158	dilated cardiomyopathy 1MM	MYBPC3	4607	Homo sapiens (human)	Alliance of Genome Resources
DOID:3138	acanthosis nigricans Aliases: keratosis nigricans	Slc2a3 Tbc1d4	20527 210789	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050820	atrioventricular block Aliases: AV block	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	gly-20	179562	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080596	hyper IgE recurrent infection syndrome 4	IL6ST	3572	Homo sapiens (human)	Alliance of Genome Resources
DOID:8864	acute monocytic leukemia Aliases: acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukaemia acute monocytic leukaemia without mention of remission acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 acute monocytic leukemia, morphology	MLLT10	8028	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111508	Torrance type platyspondylic dysplasia Aliases: PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant	col2a1	394828	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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