GlyCosmos Portal

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

Displaying entries **9701 - 9725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	Pnp	18950	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110501	autosomal recessive nonsyndromic deafness 44 Aliases: DFNB44 autosomal recessive deafness 44	Adcy1	432530	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050604	acrocapitofemoral dysplasia	Ihh	16147	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	Gucy2c Lep Neil1 Pparg Ppargc1a Prkci Slc2a9	117591 14917 16846 18759 19016 19017 72774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2508	Takayasu's arteritis Aliases: Aortic arch arteritis Idiopathic aortitis Takayasu arteritis Takayasu's disease aortic arch syndrome	Ager H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Il2 Mmp9	110557 11596 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 16183 17395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060780	congenital diarrhea 6 Aliases: chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6	Gucy2c	14917	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050328	congenital hypothyroidism	Duox1 Egr1 Fos G6pd2 G6pdx Ghr Inhbb Nefh Nefl Nefm Ngfr Ppargc1a Runx2 Tg Tpo Trhr Tshr	12393 13653 14281 14380 14381 14600 16324 18039 18040 18053 19017 21819 22018 22045 22095 380684 99439	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12449	aplastic anemia	Cd40lg Cd86 Dkc1 Ephx1 Fas Flt3l H2-Aa H2-Ab1 Ifng Kit Prf1 Rasa3 Tgfb1 Thpo Tnf	12524 13849 14102 14256 14960 14961 15978 16590 18646 19414 21803 21832 21926 21947 245474	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070393	developmental and epileptic encephalopathy 107 Aliases: DEE107 early infantile epileptic encephalopathy 107	Napb	17957	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4297	scimitar syndrome Aliases: Halasz syndrome congenital venolobar syndrome hypogenetic lung syndrome mirror-image lung syndrome pulmonary venolobar syndrome total anomalous pulmonary venous return vena cava bronchovascular syndrome	Pdgfra	18595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2755	Mycobacterium avium complex disease Aliases: Infection due to Mycobacterium intracellulare MAC disease Mycobacterium Avium Infection Mycobacterium avium Complex	Adipoq Il17a Tnf	11450 16171 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070222	progressive familial intrahepatic cholestasis 2 Aliases: BSEP deficiency PFIC2	Abcb11	27413	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2468	psychotic disorder Aliases: mental or behavioural disorder	Gdi1	14567	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	Fuca1	71665	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12401	intermittent explosive disorder Aliases: explosive personality disorder	Comt	12846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081102	familial gestational hyperthyroidism	Tshr	22095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070117	Meckel syndrome 3 Aliases: MKS3 Meckel-Gruber syndrome, type 3	Tmem67	329795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060206	amyotrophic lateral sclerosis type 15 Aliases: ALS15 amyotrophic lateral sclerosis 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	Ubqln2 Ubqln4	54609 94232	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080990	King Denborough syndrome	Ryr1	20190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080550	Noonan syndrome with multiple lentigines 3 Aliases: LEOPARD syndrome 3	Braf	109880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110467	autosomal recessive nonsyndromic deafness 12 Aliases: DFNB12 autosomal recessive deafness 12	Atp2b2 Cdh23	11941 22295	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081147	common variable immunodeficiency 4	Tnfrsf13c	72049	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	Skic3	218343	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112367	Coffin-Siris syndrome 8 Aliases: CSS8	Smarcc2	68094	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	Abcc8 Adipoq Agtr1a Ccl2 Gck Gfpt1 Glud1 Hp Ins1 Ins2 Kcnj11 Lep Lepr Lipc Lta Npy5r Pfkfb1 Ptprf Rbp4 Rps6kb1	103988 11450 11607 14583 14661 15439 15450 16333 16334 16514 16846 16847 16992 18168 18639 19268 19662 20296 20927 72508	Mus musculus (house mouse)	Alliance of Genome Resources

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