Phenotype: abnormal heart left ventricle morphology

Definition any structural anomaly of the left lower chamber of the heart

Synonyms
  • LV abnormality
  • LV abnormality
  • abnormal left ventricle morphology
  • abnormal left ventricle morphology
  • abnormal LV
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Related
Synonyms
  • Dysplastic aortic valve
  • Dysplastic aortic valve
  • patent aortic valve
  • patent aortic valve
  • dilated heart left ventricle
  • increased left ventricle weight
  • abnormal heart left ventricle weight
  • heart left ventricle aneurysm
  • abnormal heart left ventricle outflow tract morphology
  • enlarged aortic valve
  • muscular subaortic stenosis
  • increased left ventricle weight
  • left ventricle to aorta tunnel
  • aortic valve atresia
  • aortic valve stenosis
  • abnormal aortic valve anulus morphology
  • heart left ventricle outflow tract stenosis
  • Aortic valve calcification
  • Aortic valve atresia
  • Muscular subvalvular aortic stenosis
  • decreased heart left ventricle weight
  • heart left ventricle hypoplasia
  • Aortic valve stenosis
  • increased heart left ventricle size
  • Abnormal aortic valve cusp morphology
  • Left ventricular hypertrophy
  • Aortic valve stenosis
  • Aortic valve stenosis
  • abnormal aortic valve cusp morphology
  • muscular subaortic stenosis
  • abnormal heart left ventricle size
  • aortic valve stenosis
  • decreased heart left ventricle size
  • abnormal aortic valve morphology
  • Membranous subvalvular aortic stenosis
  • heart left ventricle hypertrophy
  • decreased heart left ventricle weight
  • Membranous subvalvular aortic stenosis
  • Muscular subvalvular aortic stenosis
  • aortic valve stenosis
  • calcified aortic valve
  • aortic valve prolapse
  • Subvalvular aortic stenosis
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MP browserMP:0003921

Phenotype associations stats

3.73% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal heart left ventricle morphology (36/965)

3.36% females (32/951) 4.30% males (29/675)

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Gene variants with abnormal heart left ventricle morphology

Total number of significant genotype-phenotype associations: 65

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Alpk3
Alpk3tm1b(EUCOMM)Hmgu
HOM Female postnatal dilated heart left ventricle Echo | End-Systolic Diameter MRC Harwell | IMPC 3.15E-21
Bbs5
Bbs5tm1b(EUCOMM)Wtsi
HOM Female postnatal abnormal heart left ventricle morphology Echo | End-Diastolic Diameter MRC Harwell | IMPC 2.25E-8
Hmcn2
Hmcn2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDd BCM | IMPC 3.24E-8
Ints6l
Ints6lem1(IMPC)Marc
HEM Male postnatal dilated heart left ventricle Echo | LVIDs MARC | IMPC 3.26E-8
Suv39h2
Suv39h2em1(IMPC)Marc
HOM Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 3.77E-8
Ints6l
Ints6lem1(IMPC)Marc
HEM Male postnatal decreased heart left ventricle size Echo | LVPWs MARC | IMPC 4.34E-8
Alpk3
Alpk3tm1b(EUCOMM)Hmgu
HOM Female postnatal increased heart left ventricle size Echo | LVAWd MRC Harwell | IMPC 8.71E-8
Phf21b
Phf21bem1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 3.22E-7
Prdm4
Prdm4tm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal heart left ventricle morphology Echo | LVIDd MRC Harwell | IMPC 3.61E-7
Ints6l
Ints6lem1(IMPC)Marc
HOM Female postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 1.53E-6
Dnase1l2
Dnase1l2tm1.1(KOMP)Wtsi
HOM Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDd ICS | IMPC 5.26E-6
Klhl29
Klhl29tm1b(EUCOMM)Hmgu
HOM Male postnatal abnormal heart left ventricle morphology Echo | LVIDs ICS | IMPC 5.78E-6
Kdm2b
Kdm2bem1(IMPC)Marc
HET Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 6.34E-6
Abhd3
Abhd3em1(IMPC)Marc
HOM Female Male postnatal dilated heart left ventricle Echo | LVIDs MARC | IMPC 7.05E-6
Yae1d1
Yae1d1tm1b(EUCOMM)Hmgu
HET Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDd HMGU | IMPC 8.28E-6
Prmt6
Prmt6em1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 9.87E-6
Ube2z
Ube2zem1(IMPC)Marc
HET Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 1.09E-5
Fbxo10
Fbxo10tm1b(KOMP)Wtsi
HOM Female Male postnatal dilated heart left ventricle Echo | LVIDs MARC | IMPC 1.12E-5
Aars2
Aars2tm1(KOMP)Wtsi
HET Female postnatal abnormal heart left ventricle morphology Echo | LVIDd MARC | IMPC 1.37E-5
Gsdmd
Gsdmdem1(IMPC)Marc
HOM Female Male postnatal dilated heart left ventricle Echo | LVIDs MARC | IMPC 1.55E-5
Sirt1
Sirt1tm1b(EUCOMM)Wtsi
HET Female postnatal abnormal heart left ventricle morphology Echo | LVIDd MRC Harwell | IMPC 2.03E-5
Aoc1
Aoc1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDs HMGU | IMPC 2.12E-5
Cdk5rap3
Cdk5rap3tm1b(EUCOMM)Hmgu
HET Male postnatal abnormal heart left ventricle morphology Echo | LVIDd HMGU | IMPC 2.15E-5
Ccdc83
Ccdc83em1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 2.32E-5
Pard3b
Pard3btm1b(EUCOMM)Wtsi
HOM Male postnatal abnormal heart left ventricle morphology Echo | LVIDs HMGU | IMPC 2.69E-5
Aak1
Aak1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDd ICS | IMPC 3.58E-5
Esr2
Esr2em1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 3.59E-5
Scaper
Scapertm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal heart left ventricle morphology Echo | LVIDs ICS | IMPC 3.81E-5
Leprotl1
Leprotl1tm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal heart left ventricle morphology Echo | End-Systolic Diameter MRC Harwell | IMPC 4.1E-5
Pde4dip
Pde4diptm1b(KOMP)Wtsi
HET Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDd BCM | IMPC 4.9E-5
Ift172
Ift172tm2b(EUCOMM)Hmgu
HET Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDd BCM | IMPC 5.81E-5
Siva1
Siva1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal decreased heart left ventricle size Echo | LVPWs HMGU | IMPC 5.81E-5
Gsdmd
Gsdmdem1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVPWs MARC | IMPC 6.25E-5
Hilpda
Hilpdaem1(IMPC)Mhzh
HOM Female Male postnatal decreased heart left ventricle size Echo | LVPWs MARC | IMPC 6.61E-5
Vav2
Vav2em1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 7.26E-5
Ap4e1
Ap4e1tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDs HMGU | IMPC 7.28E-5
Usp31
Usp31em1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVAWd MARC | IMPC 7.31E-5
Zfp235
Zfp235tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDs BCM | IMPC 7.55E-5
Itm2c
Itm2ctm1b(EUCOMM)Wtsi
HET Female Male postnatal abnormal heart left ventricle morphology Echo | LVIDs HMGU | IMPC 7.88E-5
Trim37
Trim37em1(IMPC)Marc
HOM Female Male postnatal decreased heart left ventricle size Echo | LVPWs MARC | IMPC 9.31E-5

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