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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