GlyCosmos Portal

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

Displaying entries **4576 - 4600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110177	Charcot-Marie-Tooth disease axonal type 2N Aliases: CMT2N Charcot-Marie-Tooth neuropathy axonal type 2N autosomal dominant Charcot-Marie-Tooth disease type 2N autosomal dominant axonal Charcot-Marie-Tooth disease type 2N	AARS1	16	Homo sapiens (human)	Alliance of Genome Resources
DOID:11829	degenerative myopia Aliases: degenerative progressive high myopia pathological myopia progressive high (degenerative) myopia progressive high myopia	Lrp2	29216	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10485	esophageal atresia Aliases: Congenital atresia of esophagus Congenital imperforate esophagus Imperforate esophagus Oesophageal atresia	Eftud2	20624	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2101	vulva squamous cell carcinoma Aliases: Vulvar Epidermoid carcinoma vulvar squamous cell carcinoma	CDC25A CDC25B SFN	2810 993 994	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070220	familial hyperinsulinemic hypoglycemia 5 Aliases: HHF5 hyperinsulinemic hypoglycemia due to INSR deficiency hyperinsulinemic hypoglycemia due to insulin receptor deficiency hyperinsulinism due to INSR deficiency	daf-2	175410	Caenorhabditis elegans	Alliance of Genome Resources
DOID:614	lymphopenia Aliases: Lymphocytopenia	Ccl28 Cd28 Csf1r Ednrb Fcgr2b Fcgr3 Fcgr4 Il2ra Tnf	12487 12978 13618 14130 14131 16184 21926 246256 56838	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112233	lissencephaly 8 Aliases: LIS8	Tmtc3	314785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060940	dystonia 33	EIF2AK2	5610	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060335	autosomal dominant sideroblastic anemia 4	Hspa9	15526	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110152	Charcot-Marie-Tooth disease type 1B Aliases: CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy	Mpz	17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050331	lacrimoauriculodentodigital syndrome 1 Aliases: LEVY-HOLLISTER SYNDROME Lacrimo-auriculo-dento-digital syndrome 1	Fgf10 Fgfr2	14165 14183	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	NOTCH3 PDGFRB	4854 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	Abcc9 Actc1 Adrb1 Adrb2 Agtr1a Agtr2 Bag3 Bax Cacnb4 Cap2 Casp9 Cd40 Cdk8 Col15a1 Col18a1 Cs Csl Ctsl Cxcr3 Cyp1a1 Cyp2c29 Dag1 Des Dll1 Dll4 Dmd Dner Dnm1l Dsc2 Dsg2 Ece1 Eef1a1 Eef1a2 Egfr Emd Erbb2 Esrrb Eya4 Fas Fkrp Flii Flnc Gdf1 Get3 Gja1 Gpx1 H2-Ab1 Hfe Hp Icam1 Icam2 Il10 Il13ra2 Jag1 Jag2 Ldb3 Lepr Lmna Ltbp2 Map3k7 Mas1 Med1 Mmp1a Mmp2 Mrgprd Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b Nr2f2 Orai1 Pdcd1 Pdlim5 Phc1 Ppargc1a Ppp3ca Prkcb Ptger4 Ptpn11 Rbfox1 Rbp4 Rps6kb1 Rtf1 Rxra Snai1 Sod2 Srf Stim1 Stim2 Tbx20 Tcam1 Timp3 Tnf Tnni3 Trdn Trp53 Ttn Vcl Vezf1	109305 11464 11554 11555 11607 11609 116873 11819 12028 12298 12371 12766 12819 12822 12974 13039 13076 13095 13138 13346 13388 13405 13506 13511 13619 13627 13628 13649 13726 13866 14051 140781 14102 14248 14559 14609 14775 14961 15216 15439 15894 15896 16153 16165 16449 16450 16847 16905 16997 17171 17390 17879 17882 17883 17884 17888 18566 18751 19014 19017 19055 19219 19247 19662 20181 20613 20656 20807 20866 20928 211578 21859 21926 21939 21954 22059 22138 22330 22344 227325 230857 24131 243853 26380 264064 26409 268859 29810 544791 54485 56376 56495 57246 668940 67252 68794 71832 72508 74006 75870 76246 76757 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	Arid1a Bap1 Braf Fas Fasl Foxp3 Hsp90aa1 Hsp90ab1 Idh2 Kras Lcn2 Lrp1b Rnf43 Smad4 Tep1	104416 109880 14102 14103 15516 15519 16653 16819 17128 20371 207742 21745 269951 93760 94217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	Cblif	29319	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080585	Van Maldergem syndrome 1	ds	33245	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:62	aortic valve disease	Nos3	24600	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	GCY1 IDP1 IDP2 IDP3 PBS2 RLI1 SYT1 YPR1	850871 851493 851665 851974 853313 854287 855723 856210	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9008	psoriatic arthritis Aliases: arthritis psoriatica arthropathic psoriasis	Cyp1a1 Il13 Il17a Lta Mmp1a Pecam1 Stat3 Tnf	13076 16163 16171 16992 18613 20848 21926 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:264	hemangiopericytoma Aliases: Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma	DLL4 EPHB4 HES1 KDR NOTCH1 NOTCH4 PTEN	2050 3280 3791 4851 4855 54567 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111566	familial isolated trichomegaly Aliases: TCMGLY long eyelashes	Fgf5	14176	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3840	craniopharyngioma Aliases: neoplasm of Rathke's Pouch	tor	35717	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	YKE4	854789	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080732	Ehlers-Danlos syndrome classic-like 2	AEBP1	165	Homo sapiens (human)	Alliance of Genome Resources
DOID:13550	angle-closure glaucoma Aliases: ACG - Angle-closure glaucoma Angle Closure Glaucoma Closed angle glaucoma Narrow cleft glaucoma primary open-angle glaucoma with narrow angles	APOE CAT EDN1 HGF LOXL1 MMP9 MUC5AC NOS3 TFAP2B	1906 3082 348 4016 4318 4586 4846 7021 847	Homo sapiens (human)	Alliance of Genome Resources

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