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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 **14301 - 14325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0112209	developmental and epileptic encephalopathy 73 Aliases: DEE73 early infantile epileptic encephalopathy 73	RNF13	11342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112334	pontocerebellar hypoplasia type 1C Aliases: PCH1C	EXOSC8	11340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110662	congenital myasthenic syndrome 1B Aliases: CMS1B congenital myasthenic syndrome 1B, fast-channel	CHRNA1	1134	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110663	congenital myasthenic syndrome 1A Aliases: CMS IIa CMS1A congenital myasthenic syndrome 1A, slow-channel congenital myasthenic syndrome type IIa	CAST CHRNA1	1134 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060933	developmental delay, dysmorphic facies, and brain anomalies Aliases: DEVDFB	U2AF2	11338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	SLC52A3	113278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080632	Fazio-Londe disease Aliases: riboflavin transporter deficiency neuronopathy	SLC52A3	113278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050694	Brown-Vialetto-Van Laere syndrome	SLC52A1 SLC52A2 SLC52A3	113278 55065 79581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	SLC46A1	113235	Homo sapiens (human)	Alliance of Genome Resources
DOID:13777	epidermodysplasia verruciformis	IL7 TMC6 TMC8	11322 147138 3574	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	CHST14	113189	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060370	Parkinson's disease 7 Aliases: autosomal recessive early-onset Parkinson disease 7 autosomal recessive early-onset Parkinson's disease 7	PARK7	11315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	PARK7 PINK1 SYNJ1 SYNJ2	11315 65018 8867 8871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060889	prune belly syndrome Aliases: Eagle-Barret syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome	CHRM3	1131	Homo sapiens (human)	Alliance of Genome Resources
DOID:365	bladder disease Aliases: Urinary Bladder Disease	CHRM3 RGS3 SLC18A3	1131 5998 6572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110354	retinitis pigmentosa 19 Aliases: RP19	Abca4	11304	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111013	cone-rod dystrophy 3 Aliases: CORD3	Abca4	11304	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110015	age related macular degeneration 2 Aliases: ARMD2	Abca4	11304	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8501	fundus dystrophy Aliases: Retinal Dystrophy	Abca4	11304	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	Abca4 Elovl4	11304 83603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	Abca4 Aifm1 Bcan Car4 Ccdc66 Clrn1 Cnga1 Crb1 Crb2 Fgfr2 Grin2b Gucy2e Hgf Hk1 Hkdc1 Impg1 Kl Mfrp Ngf Ofd1 Opn4 Pomgnt1 Prpf8 Prph2 Prps1 Rho Rpgr Serpinf1 Slc6a6 Snrnp200 Sod1 Tulp1 Ush2a Vegfa	11304 12032 12351 12788 14183 14812 14919 15234 15275 16591 170788 18049 19133 19139 192159 19893 20317 20655 212541 21366 216019 22157 22283 22339 229320 237222 241324 259172 26926 30044 320234 320632 63859 68273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8466	retinal degeneration Aliases: degeneration of retina	Abca4 Bard1 Bax Bdnf C3 Cep290 Cfh Cfhr4 Clu Cs Csl Dmd Fcgr1 Hdac4 Hgf Inhba Kcnh8 Lcn2 Mertk Nos3 Ofd1 Opn4 Park7 Pdha1 Pdha2 Pf4 Pkd2 Prom1 Prph2 Ptprc Rab6a Serpinf1 Sh3rf1 Tfpi2 Vdac1 Vdac2 Vdac3	11304 12021 12028 12064 12266 12628 12759 12974 13405 14129 15234 16323 16819 17289 18127 18597 18598 18764 19126 19133 19264 19346 20317 208727 211468 214403 216274 21789 22333 22334 22335 237222 30044 56744 57320 59009 71832	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	Abca4 Bad Bax Bmp4 C2 C3 Cacng3 Ccl2 Cd36 Cfb Cfh Cfhr4 Cfi Cryab Efemp1 Esr1 Fas Gsr Hspa8 Il17a Kdr Mmp2 Mmp9 Nfe2l2 Pon1 Ppargc1a Prph2 Serpinf1 Serping1 Sod1 Srsf10 Tlr4	11304 12015 12028 12159 12258 12263 12266 12491 12628 12630 12955 13982 14102 14105 14782 14962 15481 16171 16542 17390 17395 18024 18979 19017 19133 20296 20317 20655 214403 216616 21898 54376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080957	primary hypoalphalipoproteinemia 1 Aliases: familial HDL deficiency familial hypoalphalipoproteinemia	Abca1	11303	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1387	hypolipoproteinemia Aliases: Hypolipoproteinaemia	Abca1	11303	Mus musculus (house mouse)	Alliance of Genome Resources

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