GlyCosmos Portal

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

Displaying entries **7201 - 7225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	Myc Smarca4	17869 20586	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110174	Charcot-Marie-Tooth disease axonal type 2L Aliases: CMT2L Charcot-Marie-Tooth neuropathy axonal type 2L autosomal dominant Charcot-Marie-Tooth disease type 2L autosomal dominant axonal Charcot-Marie-Tooth disease type 2L	Cryaa	12954	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11569	neurocirculatory asthenia Aliases: Cardiovascular malfunction arising from mental factors Cardiovascular neurosis Da Costa's syndrome Krishaber's disease	Slc6a2	20538	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	Epm2a Gys1 Gys2 Nhlrc1	105193 13853 14936 232493	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2747	glycogen storage disease Aliases: glycogenosis	Gyg1 Gys2 Pfkl Pfkm Pfkp Phka1 Phka2 Phkg2 Prkag2 Pygl Slc2a2	108099 110094 110095 18641 18642 18679 20526 232493 27357 56421 68961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060286	combined oxidative phosphorylation deficiency	Mto1	68291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	Anxa5 Chrna4 Chrna7 Elk1 Gba1 Gpr37 Igf1r Igf2 Map2 Nefl Ngfr Pcna Snca Sncb Sncg	104069 11438 11441 11747 13712 14466 14763 16001 16002 17756 18039 18053 18538 20617 20618	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12466	secondary hyperparathyroidism	Abcg2 Casr Eng Kl Ptgs2 Tnfrsf11b	12374 13805 16591 18383 19225 26357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060578	Noonan syndrome 1 Aliases: NS1	Ptpn11 Ptpn6	15170 19247	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1210	optic neuritis	Aqp4 Ccr5 H2-Ab1 H2-Eb1 Mog Nefh Sod2	11829 12774 14961 14969 17441 20656 380684	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111717	isolated cryptophthalmia Aliases: CRYPTOP unilateral or bilateral isolated cryptophthalmos	Frem2	242022	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050669	spastic cerebral palsy	Gad1	14415	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050964	spinocerebellar ataxia type 14	Prkcg	18752	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	Ace Acvr2b Add1 Arid1a Atp2b1 Atp2b2 Atp2b4 C3 Ccn3 Cd274 Cd40 Cd40lg Cd46 Chi3l1 Clu Comt Corin Cst3 Cubn Dab2ip Ebi3 Eng Entpd1 Ephx1 Erbb2 Esr2 F2 F2r F3 F5 Fas Fasl Flt1 Gc Gpx1 Gpx4 Gsn H2-Ab1 H2-D1 H2-K1 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 Hp Hsd11b1 Icam1 Il1rn Itga4 Itgam Itpr1 Itpr3 Lcn2 Lep Lepr Mmp2 Mmp9 Nos3 Notch2 Ogg1 Pdcd1 Pgf Plaur Pml Pparg Proc Ptgs1 Ptpn2 Rbp4 Robo1 Robo4 Ryr1 Ryr2 Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Serpinf2 Slc2a1 Stox1 Tfpi Timp1 Tlr3 Tlr4 Tnf Tnfrsf1b Trpv6 Vegfa	110557 11421 11481 11518 11941 12266 12495 12654 12759 12846 13010 13805 13849 13866 13983 14061 14062 14066 14067 14102 14103 14254 142980 14473 14775 14961 14964 14972 15006 15007 15013 15015 15018 15439 15483 15894 16181 16401 16409 16438 16440 16819 16846 16847 17221 17390 17395 18127 18129 18133 18294 18566 18654 18793 18816 18854 19016 19123 19224 19255 19662 19876 20190 20191 20525 20700 20701 20702 20703 20704 216021 21788 21857 21898 21926 21938 21939 21947 22339 227753 381290 50498 53419 60533 625249 64177 65969 67972 69601 74144 93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070376	developmental and epileptic encephalopathy 31B Aliases: DEE31B	Dnm1	13429	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	Pomk	74653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:070355	multisystem proteinopathy	Yars1	107271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3gat3	72727	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090053	episodic kinesigenic dyskinesia 1 Aliases: Paroxysmal kinesigenic choreoathetosis	Prrt2	69017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:707	B-cell lymphoma Aliases: B-cell lymphocytic neoplasm	Abcg2 Btk Cd40 Ezh2 Il21r	12229 14056 21939 26357 60504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111302	generalized epilepsy with febrile seizures plus 1 Aliases: GEFS+1 GEFSP1 generalised epilepsy with febrile seizures plus 1 generalised epilepsy with febrile seizures plus type 1 generalized epilepsy with febrile seizures plus type 1	Scn1b	20266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2277	gonadal disease	Lhcgr	16867	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	Aldoc Atf4 Atf6 Bdnf Cd44 Eif2a Gja1 Gjb6 Il16 Ngf Ntf3 Ntrk2 Ntrk3 Slc6a4	11676 11911 12064 12505 14609 14623 15567 16170 18049 18205 18212 18213 226641 229317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	Itgb2 Itgb2l	16414 16415	Mus musculus (house mouse)	Alliance of Genome Resources

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