GlyCosmos Portal

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

Displaying entries **9501 - 9525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:8924	autoimmune thrombocytopenic purpura Aliases: Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura	Cd40lg Fas Fcgr2a Fcgr2al1 Fcgr2b Fcgr3a Il10 Il1a Il1rn Il2 Il4 Itgb3 Plat Tgfb1	116562 116591 24493 246097 25325 25692 287287 289211 29302 304966 498276 59086 60582 84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080776	partial androgen insensitivity syndrome Aliases: Reifenstein syndrome	AR	367	Homo sapiens (human)	Alliance of Genome Resources
DOID:8466	retinal degeneration Aliases: degeneration of retina	prph2.S	398002	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111785	frontometaphyseal dysplasia Aliases: FMD	Map3k7	313121	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1924	hypogonadism	Kiss1r Lep	114229 16846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050792	multiple cutaneous and mucosal venous malformations Aliases: VMCM cutaneomucosal venous malformation mucocutaneous venous malformations	Cad96Ca tor	35717 43026	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12140	Chagas disease Aliases: Chagas' disease chagas' disease with digestive system involvement chagas' disease with nervous system involvement chagas' disease with other organ involvement	Hsp110 mAChR-A	37892 39557	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081355	congenital myopathy 22B	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:1380	endometrial cancer Aliases: endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium	Adrb3 Akt2 Bad Bst2 Cd59b Cd9 Cdh1 Chi3l1 Comt Cyp1a1 Cyp1a2 Egf Errfi1 Il10 Jup Lta Notch1 Pik3r1 Runx1 Shbg Tnfrsf1a Tnfrsf1b Tp53 Tymp Ugt1a1	156767 24267 24296 24297 24775 24842 24861 24936 25008 25233 25313 25325 25407 25496 25513 25625 25645 313729 315219 378947 50662 64639 81679 83502 89824	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060750	familial temporal lobe epilepsy 3 Aliases: FMTLE familial mesial temporal lobe epilepsy	ABCB1	5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	ALG13	79868	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070371	leukoencephalopathy with vanishing white matter 4	Eif2b4	13667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4159	skin cancer Aliases: CA - skin cancer malignant neoplasm of skin melanoma and Non-melanoma skin cancer	Anxa7 Crkl Pml Snai1	11750 12929 18854 20613	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080160	Cytomegalovirus retinitis Aliases: CMV retinitis	HLA-B	3106	Homo sapiens (human)	Alliance of Genome Resources
DOID:1824	status epilepticus Aliases: Grand mal status	Abcc2 Abcc8 Abcg2 Acan Adam10 Ank3 Apod Aqp1 Aqp4 Bdnf Ccl2 Ccr5 Cnr1 Crp Cx3cl1 Dpysl2 Gabrb3 Ghsr Gria1 Gria2 Grik1 Grin1 Grin2a Grn Gsk3b Hcn1 Hrh3 Hsd11b1 Idh2 Kcnc4 Kcnj11 Kcnk3 Mmp9 Nlgn1 Nlgn2 Ntf3 Ogg1 Pgf Plat Plaur Prkcb Ptgs2 Ptprz1 Reln Slc6a8 Slc8a1 Slc8a2 Slc8a3 Sod2 Sstr4 Tnf	116647 117029 117096 140447 140448 24225 24408 24409 24718 24770 24787 24835 24922 25023 25116 25239 25240 25248 25293 25303 25416 25419 25555 25559 25613 25692 29143 29527 29553 29559 29627 29650 29715 312382 361596 361833 50592 50690 50692 58968 684516 81528 81687 81737 83535 84022 84027 84390 85268 89808 94203	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111821	ichthyosis follicularis-alopecia-photophobia syndrome 1 Aliases: IFAP syndrome 1 IFAP syndrome 1 with or without BRESHECK syndrome ichthyosis follicularis-atrichia-photophobia syndrome 1	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110052	amelogenesis imperfecta type 1B Aliases: AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia	Enam	13801	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111471	combined oxidative phosphorylation deficiency 30 Aliases: COXPD30	TRMT10C	54931	Homo sapiens (human)	Alliance of Genome Resources
DOID:14749	methylmalonic acidemia Aliases: methylmalonic aciduria	MCEE MMAB MMUT	326625 4594 84693	Homo sapiens (human)	Alliance of Genome Resources
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	IDP2 IDP3	850871 855723	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11664	nephrosclerosis Aliases: renal sclerosis	adrb1.L	108697308	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:12897	submandibular gland disease	Fn1	14268	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10811	nasal cavity cancer Aliases: malignant neoplasm of nasal cavities malignant tumor of the nasal cavity	SOX2 TP53	6657 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:10230	aortic atherosclerosis Aliases: Atherosclerosis of aorta	Abca1 Ldlr	11303 16835	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12556	acute kidney tubular necrosis Aliases: ATN - acute tubular necrosis acute renal Failure with tubular necrosis acute renal failure with lesion of tubular necrosis acute tubular necrosis acute tubule necrosis	dbl-1 svh-2	179068 180929	Caenorhabditis elegans	Alliance of Genome Resources

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