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Table 8 Selected Mouse Disease Related Phenotypes

From: Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information

PhenoCode PhenoType        
  DISEASE CLASS CARDIOVASCULAR Gene 1 Gene 2 Gene 3 Gene 4 Gene 5 Gene 6 Gene 10
MP:0005048 thrombosis Abca5 Actc1 Adamts13 Ahr Alox12 Anxa2 F2rl2
MP:0005341 decreased sus. to atherosclerosis APOA1 Apoe Artles Ath17 Ath29 Ath37 Icam1
MP:0000231 hypertension Abcc9 Ace2 Add2 Agt Alb1-Ren Bpq5 Chga
MP:0004181 abnormal carotid artery morphology Aldh1a2 Chrd Crk Ednra Fgf8 Foxm1 Shc1
MP:0004111 abnormal coronary artery morph. Adm Ahr Fgf8 Gja1 Hspg2 Itga4 Vegfa
MP:0005338 atherosclerotic lesions Aorls1 Aorls2 Apoe Ath29 Ath6 Ath8 Fabp4-Aebp1
MP:0000343 altered resp. to myocardial infarction Agtr2 Aifm1 Ak1 Bnip3 CMV-Abcc9 Ccr1 Ckm-Prkaa2
MP:0006058 decreased cerebral infarction size ACTB-Ngb EGFP Adora2a Cx3cl1 F11 F12 Plat
MP:0003037 increased infarction size Aifm1 Fgf2 Hmox1 Kit Mapk1 Myh6-tTA Thbd
MP:0004875 Inc. mean arterial blood pressure Ddah1 Edn1 Ednrb Kcnn3 Ptger1 Tagln-tTA  
MP:0005339 Inc. susceptibility to atherosclerosis Apoa1 Apoe Artles Ascla1 Ascla2 Ascla3 Ath18
  DISEASE CLASS - DIGESTIVE SYSTEM DISEASES Gene 1 Gene 2 Gene 3 Gene 4 Gene 5 Gene 6 Gene 10
MP:0003119 abnormal digestive system dev. Cdkn1c Cyp26a1 Foxp4 Mapk7 Mcm4 Nckap1 Tbx6
MP:0000462 abnormal digestive system morph. Apc Bmp5 Cdcs1 Cdkn1c Cftr Ctnnbip1 Gast
MP:0001663 abnormal digestive system phys. Apoe Cd44 Cftr Clec7a Col2a1 Fut2 Gpx1
MP:0000474 abnormal foregut morphology Apc Foxa2 Gata4 Gdf1 Hgs Ldb1 Otx2
MP:0000488 abnormal intestinal epithelium morph Atr B4galt1 B9d2 Bdkrb2 Cbfa2t2 Col1a1 Elf3
MP:0003449 abnormal intestinal goblet cells Areg Cbfa2t2 Cftr Clca3 Ctnnb1 E2f4 Il13
MP:0006001 abnormal intestinal transit time Drd2 Gfra2 Gucy1b3 Hmox2 Mrvi1 Smtn  
MP:0000470 abnormal stomach morphology Ahr Aire Barx1 Celsr3 Cfc1 Col1a1 Gdf11
  DISEASE CLASS - DIS. OF ENVIRONMENTAL ORIGIN Gene 1 Gene 2 Gene 3 Gene 4 Gene 5 Gene 6 Gene 10
MP:0001425 abnormal alcohol consumption Aaq1 Alcp1 Alcp19 Alcp2 Ap7q Ap8q Ppp1r1b
MP:0005443 abnormal ethanol metabolism Adh1 Adh7 Afteq1 Afteq2 Alcw3 Htas2  
MP:0002552 abnormal response to addictive sub. Adora2a Adra1d Alcw1 Alcw2 Alcw3 Alcw4 Chrna4
MP:0001987 alcohol preference Alcp1 Alcp25 Alcp3 Alcp4 Alprf Ap1q Ap5q
MP:0001988 cocaine preference Grm2 Homer1 Homer2 Per2 Slc6a3 Slc6a4  
MP:0003546 decreased alcohol consumption Camk2a Gnas Gria3 Prkce tmgc55   
MP:0004048 resistance to addictive substance Adora2a Adra1b Apba1 Aqp4 Btbd14b Chrna4 Slc6a3
  DISEASE CLASS - IMMUNE SYSTEM DISEASES Gene 1 Gene 2 Gene 3 Gene 4 Gene 5 Gene 6 Gene 10
MP:0001844 autoimmune response Tcra Tcrb ACTB Aire Cd1d1 Fas Ikzf3
MP:0005016 decreased lymphocyte cell number Atm Bcl2 Bcl6b Birc2 C3ar1 Ccr9 Ctsd
MP:0008088 abnormal T-helper 1 cell diff. Cbfb Ifngr2 Il2 Il4 Irf4 Mapk8 Sit1
MP:0002499 chronic inflammation Ccr7 Gstz1 Hmox1 Il10 Il1rn Jak3 Plcg2
MP:0004804 dec. sus. to autoimmune diabetes HLA-DQA1 HLA-DQB1 Art2a B2m Cd4 Cd4DsRed Cdk4
MP:0002411 decreased sus. to bacterial infection Anth Anth2 B2m C4b Casp1 Cd97 Dcn
MP:0005597 dec. sus. to type I hypers-reaction Alox5 Alox5ap Cysltr1 Cysltr2 Fcer1a Fcer1g Orai1
MP:0003725 increased autoantibody level Tcra Tcrb Acla1 Acla2 Aire Cd276 Cia38
MP:0005014 increased B cell number BCL2 Bak1 Bax Bcl11b Bcl2l11 Bst1 Cdkn2c
MP:0005013 increased lymphocyte cell number Axl B4galt1 Bak1 Casp8 Cd19 Ewsr1 Galnt1
MP:0004803 Inc. sus. to autoimmune diabetes Ins1-Cat Tyr B2m Cd274 Cd28 Cd38 Cdk2
MP:0005350 Inc. sus. to autoimmune disorder Tcra Tcrb Ads1 Ads2 Ads3 Ads4 Bak1
MP:0002412 increased sus. to bacterial infection Adamts13 Adcyap1r1 Adh5 Atf2 Bbaa21 Bcl10 C3
  DISEASE CLASS - MENTAL DISORDERS DISEASE CLASS - MENTAL DISORDERS Gene 1 Gene 2 Gene 3 Gene 4 Gene 5 Gene 6  
MP:0001412 excessive scratching Atp2b4 Bdnf Ctsl EIF1AX Lck-Il31ra Mapt Gene 10
MP:0001362 abnormal anxiety-related response App Araf Axtofd1 Axtofd3 Axtofd4 Axtofd5  
MP:0001458 abnormal object recognition memory Gabbr1 Gal Grin1 Prnp Prnp-App Psen1 Crhr1
MP:0001360 abnormal social investigation Avpr1a Avpr1b Cadps2 En2 Gnao1 Grin1  
MP:0002557 abnormal social/conspecific int. Ar Cadps2 Disc1 En2 Grin1 Grin3b Maoa
MP:0002065 abnormal fear/anxiety-related beh. APPV717I App Atp1a2 Crebbp Egr1 Gnai1 Oxt
MP:0001364 decreased anxiety-related response APP Adcy8 Adcyap1 Adcyap1r1 Avpr1a B3galt2 Nos3
MP:0002573 behavioral despair Adra2c B3gnt2 Cacna1c Crhr2 Desp1 Desp2 Camk2a
MP:0001462 abn. avoidance learning behavior Aal Aap Dcx Idua Ntrk2   Nr3c1
  DISEASE CLASS - NUTR. AND METABOLIC DISEASES Gene 1 Gene 2 Gene 3 Gene 4 Gene 5 Gene 6  
MP:0005560 decreased circulating glucose level Ins1-Cat Tyr Acadm Adipoq Apcs-Lep Apoe Gene 10
MP:0004185 abnormal adipocyte glucose uptake Akt2 Bglap1 Cebpa Pik3r1 Prkci Ptprv Cd36
MP:0000188 abnormal circulating glucose level Adipor1 Cidea Ciita Ckm Crh Dbm3  
MP:0001560 abnormal circulating insulin level Cacna1c Cebpa Foxa1 Gal Gck IGFBP2 Irs2
MP:0003383 abnormal gluconeogenesis Adipoq Adipor1 Cebpa Cebpb Lpin1 Mc2r Mgat4a
MP:0005291 abnormal glucose tolerance Adipoq Fstl3 Irs4 Lep Pcsk1 Pnpla2 Smarcb1
MP:0003564 abnormal insulin secretion Eif2ak3 Gast Gck Gjd2 Ins2 Lep  
MP:0002727 decreased circulating insulin level Adcyap1r1 Adipor2 Ahsg Akt2 Apcs-Lep Apoa2  
MP:0002711 decreased glucagon secretion Cacna1e Dbh Kcnj11 Nkx2-2 Pcsk2   Bglap1
MP:0003059 decreased insulin secretion Abcc8 Anxa7 Bglap1 Cacna1e Cartpt Chrm3  
MP:0001548 hyperlipidemia APOC1 Acox1 Apc Apoe Cdkn1b Cpt1c Eif2s1
MP:0005293 impaired glucose tolerance APPswe PSEN1dE9 Abcc8 Acadvl Adcyap1r1 Adipoq Lepr
MP:0005292 improved glucose tolerance Adipor2 Ahsg Bcat2 Cbl Crebbp Cxcl14 Akt2
MP:0004892 increased adiponectin level Actb Adipor2 Cideb Crebbp Pde3b Pten Gcgr
MP:0002575 Inc. circulating ketone body level Acacb Adcyap1 Gck AZIP Ins2 Ins2-Nos2 Scd1
MP:0003645 Inc. pancreatic beta cell number ACTB Akt2 Arx Hnf4a Cdkn1b Foxo1 Ins2-rtTA
MP:0001759 increased urine glucose level Aqp1 Aqp7 Cdk4 Cdk4 Cryaa-TAg Dnajc3a Ins1
MP:0005331 insulin resistance APOB Adipoq Adipor1 Clcn5 Adra1b Akt2 Bglap1
  DISEASE CLASS - EYE DISEASES Gene 1 Gene 2 Gene 3 Gene 4 Gene 5 Gene 6 Gene 10
MP:0001299 abnormal eye distance/position Dst Edg2 Hectd1 Hesx1 Itgb1 Nrtn  
MP:0000776 abnormal inferior colliculus Atg5 En1 Ext1 Fgf17 Fgf8 Fgfr1  
MP:0003236 abnormal lens capsule morphology Abi2 Cdkn2a Cryaa Cryga Hsf1 Hsf4 Otx2
MP:0002864 abnormal ocular fundus morphology Crb1 Gpr143 Mitf Pitx3 Rd9 Rp1h  
MP:0002638 abnormal pupillary reflex Cat4 Cnga3 Cry1 Eccp Foxe3 Iac tmgc25
MP:0002699 abnormal vitreous body Aldh1a1 Aldh1a3 Bmp4 Cdkn2a Fzd4 Gas1  
MP:0001314 corneal opacity Alm Apo Areg Bmp4 Cat4 Col4a1 Lim2
MP:0001851 eye inflammation Adam17 Atf2 Eda Fign ITGA2 ITGA5 Dsc1
MP:0005542 corneal vascularization Dstn Eda Fign Flt1 Foxe3 Ifnar1 Plg
MP:0003011 delayed dark adaptation Rbp1 Rdh11 Rdh12 Rdh5 Rdh8 Rlbp1 Pgf
MP:0005172 reduced eye pigmentation Ap3b1 Ap3d1 Hps5 Hps6 Mitf Nf1 Sema4a