GlyCosmos Portal

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

Displaying entries **4976 - 5000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:14228	oligospermia	Bckdk Taf7	12041 24074	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080758	Fanconi renotubular syndrome 2	Slc34a1	20505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111972	immunodeficiency 19 Aliases: CD3-delta deficiency IMD19 SCID T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive	Cd3d	12500	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080045	Kniest dysplasia	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia	Fgfr1 Gnrhr	14182 14715	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110605	primary ciliary dyskinesia 7 Aliases: CILD7 primary ciliary dyskinesia 7 with or without situs inversus	Dnah11	13411	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2893	cervix carcinoma Aliases: cancer of cervix carcinoma cervix uteri carcinoma of cervix carcinoma of the Cervix Uteri	Cd9 Efemp2 Erap1 Ptgs1 Sparc	12527 19224 20692 58859 80898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070139	autosomal recessive cutis laxa type IC Aliases: ARCL1C autosomal recessive cutis laxa type 1C	Ltbp4	108075	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081149	common variable immunodeficiency 6	Cd81	12520	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080418	developmental and epileptic encephalopathy 54 Aliases: DEE54 early infantile epileptic encephalopathy 54	Hnrnpu	51810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080665	warfarin resistance	Cyp2c29	13095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060859	salmonellosis Aliases: Salmonella infection	Il12b	16160	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	Acan Adamts4 Adamts5 Aspn Col1a1 Col2a1 Fos Gsk3b Mmp13 Mmp1a Ngf Ngfr Pappa Postn Timp1	11595 12824 12842 14281 17386 18049 18053 18491 21857 23794 240913 50706 56637 66695 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3030	mucinous adenocarcinoma Aliases: Mucin-Secreting adenocarcinoma Mucin-Secreting carcinoma Mucous carcinoma Pseudomyxoma peritonei with unknown primary site mucin-producing adenocarcinoma	Muc1 Muc4 Muc5ac Muc6	140474 17829 17833 353328	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2475	chronic conjunctivitis	Fas Lamp2	14102 16784	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1394	urinary schistosomiasis Aliases: Schistosoma Hematobium Infection Schistosoma haematobium Schistosoma hematobium infectious disease Schistosomiasis due to schistosoma haematobium Schistosomiasis of bladder Vesical schistosomiasis bladder Schistosomiasis cystitis with bilharziasis	Cd1d1 Cd1d2 Ctla4 Il5 Stat6	12477 12479 12480 16191 20852	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080592	Klippel-Feil syndrome 4	Myo18b	74376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110825	hereditary spastic paraplegia 9B Aliases: SPG9B autosomal recessive complex spastic paraplegia type 9B autosomal recessive spastic paraplegia 9B	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5409	lung small cell carcinoma	Acvr1b Apoc3 Atrx Chrna3 Chrna5 Chrnb4 Csf1r Dll4 Eef2 Fat1 Itgb1 Kdm6a Lama3 Lamb3 Lamc2 Max Mtor Notch1 Pik3r1	108015 110834 110835 11479 11814 12978 13629 14107 16412 16774 16780 16782 17187 18128 18708 22289 22589 54485 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	Bace2 Ewsr1 Fus Grn Map4 Mapt Nefl Trem2 Ubqln2 Ubqln4	14030 14824 17758 17762 18039 233908 54609 56175 83433 94232	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080420	developmental and epileptic encephalopathy 62 Aliases: DEE62 early infantile epileptic encephalopathy 62	Scn3a	20269	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	Ano5 Fktn	233246 246179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12177	common variable immunodeficiency Aliases: CVID acquired agammaglobulinemia acquired hypogammaglobulinemia common variable agammaglobulinemia sporadic hypogammaglobulinemia	Fcgr2b Fcgr3 H2-Ab1 Icos Il21r Mbl2 Pecam1	14130 14131 14961 17195 18613 54167 60504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112227	tubulinopathy	Tubb2a Tubb2b Tubb3 Tubb4a Tubb4b Tubb5 Tubb6	22151 22152 22153 22154 227613 67951 73710	Mus musculus (house mouse)	Alliance of Genome Resources

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