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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 **1151 - 1175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060573	von Willebrand's disease 1 Aliases: VWD type 1 VWD1 von Willebrand disease type 1 von Willebrand disease type I	ITGA2 ITGA2B PLAT VWF	3673 3674 5327 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:11166	Human papillomavirus infectious disease Aliases: HPV	Egfr btl htl	37455 39564 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	Atp1a1 Atp1b1 Clcnka Clcnkb Ednrb Eya4 F2 F5 H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Ifng Il2 Itga2 Lnx1 Mbl2 Myh9 Myo1a Myo6 Ngf Opn4 Ptgds Scarb1 Slc12a2 Slc44a4 Slc7a14 Sod2 Strc Tecta Tmprss3 Tnf Wfs1	110557 11928 11931 12733 13618 140476 14051 14061 14067 140765 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 15978 16183 16398 16924 17195 17886 17920 18049 19215 20496 20656 20778 21683 21926 22393 241919 30044 432516 56365 70129	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111908	thrombophilia due to thrombomodulin defect Aliases: THBD-related bleeding disorder THBD-related coagulopathy THPH12 thrombomodulin-related bleeding disorder thrombomodulin-related coagulopathy	Thbd	21824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12689	acoustic neuroma Aliases: Vestibular Neurilemmoma Vestibular schwannoma	fgfr1	548648	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:2841	asthma Aliases: bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus	Abcb1a Abcb1b Abo Ace Acsl3 Adam33 Adam8 Adora1 Adora2a Adrb2 Ager Agtr1a Agtr2 Ambp Bdkrb2 Bdnf Bmpr2 C3 C3ar1 C5ar1 Carm1 Ccl11 Ccl19 Ccl1 Ccl24 Ccl2 Ccl7 Ccr4 Ccr5 Ccr8 Ccr9 Cd14 Cd209a Cd209b Cd209c Cd209d Cd28 Cd40 Cd86 Cdh1 Cftr Chi3l1 Chia1 Chil3 Chil4 Chrm1 Chrm2 Chrm3 Clca1 Cma1 Crhr1 Crhr2 Csf2 Csf2rb2 Csf2rb Csf3 Ctla4 Cxcr3 Cysltr1 Cysltr2 Dcn Dpp10 Ednrb Egfr Egr1 Elp1 Ephx1 Epx Esr2 F2 F2rl1 F7 Fas Fcer1a Fcgr2b Fcgr3 Fcgr4 Fga Foxp3 Gc Gsto2 H2-Aa H2-Ab1 H2-D1 H2-Ea H2-Eb1 H2-K1 H2-M2 H2-M3 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Havcr1 Hc Hmgcr Hnmt Hp Icam1 Ifng Ifngr1 Ifnl2 Il10 Il12b Il13 Il13ra1 Il13ra2 Il15 Il16 Il17a Il18r1 Il19 Il1a Il1rl1 Il1rn Il21 Il22 Il22b Il27 Il2 Il2ra Il2rb Il3 Il4 Il4ra Il5 Il5ra Il9 Il9r Itgb3 Itgb6 Itpr1 Kdr Lep Lta Mbl2 Mmp9 Mpo Muc1 Muc5ac Muc5b Nfe2l2 Ngf Nos3 Npsr1 Nr3c1 Ntf3 Ntrk1 P2ry12 Pdgfb Pgf Pla2g4a Pla2g7 Prf1 Prg2 Proc Ptgdr2 Ptgdr Ptgs2 Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Sftpb Sftpd Slc22a1 Slc5a7 Slc6a4 Sod2 Stat6 Tacr1 Tacr2 Tbxa2r Tgfb1 Thbd Timd2 Tlr1 Tlr2 Tlr3 Tlr4 Tlr6 Tlr9 Tnc Tnf Trpa1 Vegfa Vip	100504404 104183 110557 110751 11421 11501 11539 11540 11555 11596 11607 11609 116849 11699 12062 12064 12168 12266 12267 12273 12475 12477 12487 12524 12550 12638 12654 12655 12669 12671 12766 12769 12773 12774 12776 12921 12922 12981 12983 12984 12985 13179 13618 13649 13653 13849 13861 13983 140483 14061 14063 14068 14102 14125 14130 14131 14161 142980 14473 14764 14815 14960 14961 14964 14969 14972 14990 14991 15006 15007 15013 15015 15018 15043 15139 15357 15439 15567 15894 15978 15979 16153 16160 16163 16164 16165 16168 16170 16171 16175 16181 16182 16183 16184 16185 16187 16189 16190 16191 16192 16198 16199 16416 16420 16438 16542 16846 16992 170776 170779 170786 17082 171283 171284 17195 17228 17395 17523 17829 17833 18024 18049 18127 18205 18211 18591 18646 18654 18669 18671 18783 19074 19123 19214 19225 20290 20292 20296 20306 20371 20388 20390 20517 20656 20700 20701 20702 20703 20704 20852 21336 21337 21390 21803 21824 21897 21898 21899 21923 21926 21939 22339 22353 230233 23844 24047 24088 243764 246256 246779 269109 27226 277328 319239 329244 330496 50929 56221 58861 59035 60505 63993 68214 69165 70086 70839 74180 74205 80908 81600 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110443	dilated cardiomyopathy 1B	fktn	100006345	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110590	autosomal dominant nonsyndromic deafness 69 Aliases: DCUA DFNA69 autosomal dominant deafness 69 unilateral or asymmetric congenital deafness	KITLG	4254	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070074	autosomal dominant intellectual developmental disorder 44 Aliases: MRD44 autosomal dominant intellectual developmental disorder 44 with microcephaly autosomal dominant mental retardation 44 autosomal dominant non-syndromic intellectual disability 44	TRIO	7204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070371	leukoencephalopathy with vanishing white matter 4	GCD2	852974	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110645	long QT syndrome 2 Aliases: LQT2	Alg10b Kcnh2	16511 380959	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10485	esophageal atresia Aliases: Congenital atresia of esophagus Congenital imperforate esophagus Imperforate esophagus Oesophageal atresia	EFTUD2	9343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	PIG-A	37020	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081116	benign familial infantile seizures 3 Aliases: Benign Familial Infantile Seizures, 3 benign familial neonatal-infantile seizures	Scn2a	110876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050169	cutaneous lupus erythematosus	Cd40 Cd40lg Il17a	16171 21939 21947	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	akt2.L akt2.S	379783 432172	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111228	Sveinsson chorioretinal atrophy Aliases: HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type	TEAD1	7003	Homo sapiens (human)	Alliance of Genome Resources
DOID:9351	diabetes mellitus Aliases: diabetes	ADP1 ECM14 ECM38 EMI2 GIT1 GLK1 GLR1 HMG1 HMG2 HXK1 HXK2 NFT1 VVS1 ZWF1	850317 850369 850462 850614 851006 851171 852128 852543 852639 853978 854900 855480 856014 856533	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2211	factor XIII deficiency Aliases: Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor	F13a1 Lman1	70361 74145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	Atp1b1 Ednrb Ifng Il2 Ngf Opn4 Ptgds Scarb1 Slc44a4 Sod2 Tnf	116562 192223 24787 24835 25073 25526 25650 25712 294255 310738 50672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080036	SOST-related sclerosing bone dysplasia Aliases: van Buchem disease	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:3458	breast adenocarcinoma Aliases: Mammary adenocarcinoma	BRCA1 CAT CYP1B1 FGFR3 MUC1 MXI1 TNF	1545 2261 4582 4601 672 7124 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070268	congenital disorder of glycosylation type IIp Aliases: CDG IIp CDG syndrome type IIp CDG2P CDGIIdp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG	TMEM199	147007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090030	corticosteroid-binding globulin deficiency Aliases: CBG deficiency transcortin deficiency	Spn28Dc	34091	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050704	childhood electroclinical syndrome	cac	32158	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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