Phenotype: abnormal heart left ventricle morphology

Definition
any structural anomaly of the left lower chamber of the heart
Synonyms
LV abnormality,  abnormal LV,  abnormal left ventricle morphology
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with abnormal heart left ventricle morphology

Total number of significant genotype-phenotype associations: 95

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value
Alpk3
Alpk3tm1b(EUCOMM)Hmgu
HOM   Early adult dilated heart left ventricle Echo | LVIDs MRC Harwell | IMPC 0.00
Shox2
Shox2em1(IMPC)Bay
HET Early adult decreased heart left ventricle size Echo | LVAWd BCM | IMPC 1.40×10-11
Ints6l
Ints6lem1(IMPC)Marc
HEM   Early adult dilated heart left ventricle Echo | LVIDs MARC | IMPC 7.82×10-10
Apol10b
Apol10btm1b(KOMP)Wtsi
HOM Early adult increased heart left ventricle size Echo | LVAWd BCM | IMPC 6.78×10-09
Alpk3
Alpk3tm1b(EUCOMM)Hmgu
HOM   Early adult increased heart left ventricle size Echo | LVAWd MRC Harwell | IMPC 1.61×10-08
Cav1
Cav1em2(IMPC)Ics
HOM Early adult increased heart left ventricle size Echo | LVAWd ICS | IMPC 2.17×10-08
Ints6l
Ints6lem1(IMPC)Marc
HEM   Early adult decreased heart left ventricle size Echo | LVPWs MARC | IMPC 6.36×10-08
Slc10a2
Slc10a2tm1b(KOMP)Mbp
HOM Early adult increased heart left ventricle size Echo | LVAWd BCM | IMPC 8.51×10-08
Prdm4
Prdm4tm1b(EUCOMM)Hmgu
HOM Early adult abnormal heart left ventricle morphology Echo | LVIDd MRC Harwell | IMPC 1.26×10-07
Gngt2
Gngt2em1(IMPC)Bay
HOM Early adult increased heart left ventricle size Echo | LVAWd BCM | IMPC 1.70×10-07
Adtrp
Adtrpem1(IMPC)Bay
HOM Early adult decreased heart left ventricle size Echo | LVPWs BCM | IMPC 2.57×10-07
Nek1
Nek1em1(IMPC)Bay
HOM   Early adult abnormal heart left ventricle morphology Echo | LVIDd BCM | IMPC 2.58×10-07
Mapkap1
Mapkap1tm1b(EUCOMM)Wtsi
HET Early adult dilated heart left ventricle Echo | LVIDd BCM | IMPC 3.29×10-07
Bbs5
Bbs5tm1b(EUCOMM)Wtsi
HOM   Early adult abnormal heart left ventricle morphology Echo | End-Diastolic Diameter MRC Harwell | IMPC 3.74×10-07
Dsg2
Dsg2tm1b(EUCOMM)Wtsi
HOM   Early adult dilated heart left ventricle Echo | LVIDs BCM | IMPC 4.40×10-07
Ints6l
Ints6lem1(IMPC)Marc
HOM   Early adult decreased heart left ventricle size Echo | LVAWd MARC | IMPC 4.93×10-07
Golt1b
Golt1btm1b(EUCOMM)Wtsi
HOM   Early adult abnormal heart left ventricle morphology Echo | LVIDd HMGU | IMPC 5.87×10-07
Klhl29
Klhl29tm1b(EUCOMM)Hmgu
HOM   Early adult abnormal heart left ventricle morphology Echo | LVIDs ICS | IMPC 8.02×10-07
Col1a2
Col1a2tm1b(EUCOMM)Wtsi
HOM Early adult dilated heart left ventricle Echo | LVIDd BCM | IMPC 1.02×10-06
Ascc2
Ascc2tm1b(EUCOMM)Wtsi
HET Early adult decreased heart left ventricle size Echo | LVAWd BCM | IMPC 1.05×10-06
Yae1d1
Yae1d1tm1b(EUCOMM)Hmgu
HET   Early adult abnormal heart left ventricle morphology Echo | LVIDd HMGU | IMPC 1.48×10-06
Suv39h2
Suv39h2em1(IMPC)Marc
HOM Early adult decreased heart left ventricle size Echo | LVAWd MARC | IMPC 1.57×10-06
Skil
Skiltm1b(EUCOMM)Hmgu
HOM Early adult increased heart left ventricle size Echo | LVAWd BCM | IMPC 1.90×10-06
Fzd8
Fzd8em1(IMPC)Bay
HOM   Early adult increased heart left ventricle size Echo | LVAWd BCM | IMPC 2.18×10-06
Nr1d1
Nr1d1tm1.1(KOMP)Vlcg
HET   Early adult decreased heart left ventricle size Echo | LVPWs BCM | IMPC 2.22×10-06
Arhgap40
Arhgap40tm1b(KOMP)Wtsi
HOM Early adult dilated heart left ventricle Echo | End-Diastolic Diameter BCM | IMPC 2.22×10-06
Eftud2
Eftud2tm1b(KOMP)Wtsi
HET Late adult decreased heart left ventricle size Echo | LVAWd ICS | IMPC 3.38×10-06
Gsdmd
Gsdmdem1(IMPC)Marc
HOM   Early adult decreased heart left ventricle size Echo | LVPWs MARC | IMPC 4.14×10-06
Grem2
Grem2em1(IMPC)Bay
HET   Early adult dilated heart left ventricle Echo | End-Diastolic Diameter BCM | IMPC 4.45×10-06
Slc2a12
Slc2a12em2(IMPC)Bay
HOM Early adult increased heart left ventricle size Echo | LVAWd BCM | IMPC 4.67×10-06
Erg
Ergem1(IMPC)Bay
HET Early adult increased heart left ventricle size Echo | LVAWd BCM | IMPC 6.45×10-06
Ube2z
Ube2zem1(IMPC)Marc
HET   Early adult decreased heart left ventricle size Echo | LVAWd MARC | IMPC 7.22×10-06
Prmt6
Prmt6em1(IMPC)Marc
HOM   Early adult decreased heart left ventricle size Echo | LVAWd MARC | IMPC 7.52×10-06
Ap1ar
Ap1artm2b(EUCOMM)Hmgu
HOM Early adult dilated heart left ventricle Echo | LVIDd BCM | IMPC 7.73×10-06
Mthfd2
Mthfd2tm1b(EUCOMM)Wtsi
HET Early adult increased heart left ventricle size Echo | LVAWd BCM | IMPC 8.07×10-06
Tmem169
Tmem169em1(IMPC)Mhzh
HOM   Early adult dilated heart left ventricle Echo | LVIDs MARC | IMPC 8.63×10-06
Gsdmd
Gsdmdem1(IMPC)Marc
HOM   Early adult dilated heart left ventricle Echo | LVIDs MARC | IMPC 9.95×10-06
Arhgap24
Arhgap24tm1b(KOMP)Wtsi
HOM   Early adult increased heart left ventricle size Echo | LVAWd ICS | IMPC 1.00×10-05
Vav2
Vav2em1(IMPC)Marc
HOM   Early adult decreased heart left ventricle size Echo | LVAWd MARC | IMPC 1.06×10-05
Hmcn2
Hmcn2tm1b(EUCOMM)Wtsi
HOM   Early adult abnormal heart left ventricle morphology Echo | LVIDd BCM | IMPC 1.07×10-05
Fam126a
Fam126aem1(IMPC)Ccpcz
HOM   Early adult dilated heart left ventricle Echo | LVIDd CCP-IMG | IMPC 1.14×10-05
Lmo1
Lmo1tm1b(KOMP)Mbp
HOM Early adult abnormal heart left ventricle morphology Echo | LVIDs HMGU | IMPC 1.34×10-05
Prkab1
Prkab1tm1b(KOMP)Wtsi
HOM   Early adult abnormal heart left ventricle morphology Echo | LVIDd CCP-IMG | IMPC 1.35×10-05
Kdm2b
Kdm2bem1(IMPC)Marc
HET   Early adult decreased heart left ventricle size Echo | LVAWd MARC | IMPC 1.39×10-05
Sirt1
Sirt1tm1b(EUCOMM)Wtsi
HET   Early adult abnormal heart left ventricle morphology Echo | LVIDd MRC Harwell | IMPC 1.61×10-05
Taok2
Taok2tm1b(EUCOMM)Hmgu
HET   Early adult decreased heart left ventricle size Echo | LVAWd ICS | IMPC 1.67×10-05
Map3k12
Map3k12tm1b(EUCOMM)Hmgu
HET Early adult increased heart left ventricle size Echo | LVAWd BCM | IMPC 1.68×10-05
Siva1
Siva1tm1b(EUCOMM)Hmgu
HOM Early adult decreased heart left ventricle size Echo | LVPWs HMGU | IMPC 1.79×10-05
Snx25
Snx25tm1b(KOMP)Wtsi
HET Early adult dilated heart left ventricle Echo | LVIDs MARC | IMPC 1.98×10-05
Phf21b
Phf21bem1(IMPC)Marc
HOM Early adult decreased heart left ventricle size Echo | LVAWd MARC | IMPC 2.02×10-05
Atad5
Atad5em1(IMPC)Bay
HET Early adult increased heart left ventricle size Echo | LVAWd BCM | IMPC 2.05×10-05
Aoc1
Aoc1tm1b(EUCOMM)Hmgu
HOM   Early adult abnormal heart left ventricle morphology Echo | LVIDs HMGU | IMPC 2.05×10-05
Ccdc83
Ccdc83em1(IMPC)Marc
HOM   Early adult decreased heart left ventricle size Echo | LVAWd MARC | IMPC 2.08×10-05
Rnf10
Rnf10em1(IMPC)Bay
HOM   Early adult increased heart left ventricle size Echo | LVAWd BCM | IMPC 2.10×10-05
Rxfp3
Rxfp3em1(IMPC)Bay
HOM   Early adult abnormal heart left ventricle morphology Echo | LVIDs BCM | IMPC 2.12×10-05
Zfp488
Zfp488em1(IMPC)Bay
HOM Early adult decreased heart left ventricle size Echo | LVAWd BCM | IMPC 2.19×10-05
Abhd3
Abhd3em1(IMPC)Marc
HOM Early adult dilated heart left ventricle Echo | LVIDs MARC | IMPC 2.27×10-05
Scarb1
Scarb1tm1b(EUCOMM)Wtsi
HOM   Early adult dilated heart left ventricle Echo | End-Systolic Diameter BCM | IMPC 2.60×10-05
Usp31
Usp31em1(IMPC)Marc
HOM   Early adult decreased heart left ventricle size Echo | LVAWd MARC | IMPC 2.80×10-05
Fbxo22
Fbxo22tm1b(EUCOMM)Wtsi
HET   Early adult decreased heart left ventricle size Echo | LVAWd MARC | IMPC 2.92×10-05
Rasgrp3
Rasgrp3em1(IMPC)Wtsi
HOM   Early adult abnormal heart left ventricle morphology Echo | End-Diastolic Diameter CCP-IMG | IMPC 3.15×10-05
Thra
Thratm1b(EUCOMM)Wtsi
HET   Late adult abnormal heart left ventricle morphology Echo | LVIDd ICS | IMPC 3.19×10-05
Ap4e1
Ap4e1tm1b(KOMP)Wtsi
HOM   Early adult abnormal heart left ventricle morphology Echo | LVIDs HMGU | IMPC 3.22×10-05
Esr2
Esr2em1(IMPC)Marc
HOM   Early adult decreased heart left ventricle size Echo | LVAWd MARC | IMPC 3.26×10-05
Fbxo10
Fbxo10tm1b(KOMP)Wtsi
HOM   Early adult dilated heart left ventricle Echo | LVIDs MARC | IMPC 3.35×10-05
Churc1
Churc1tm1b(EUCOMM)Wtsi
HOM   Early adult dilated heart left ventricle Echo | End-Systolic Diameter CCP-IMG | IMPC 3.42×10-05
Wsb2
Wsb2tm1b(EUCOMM)Hmgu
HOM Early adult dilated heart left ventricle Echo | LVIDd HMGU | IMPC 3.77×10-05
Itm2c
Itm2ctm1b(EUCOMM)Wtsi
HET   Early adult abnormal heart left ventricle morphology Echo | LVIDs HMGU | IMPC 3.80×10-05
Trim37
Trim37em1(IMPC)Marc
HOM   Early adult decreased heart left ventricle size Echo | LVPWs MARC | IMPC 3.95×10-05
Aak1
Aak1tm1b(EUCOMM)Hmgu
HOM   Early adult abnormal heart left ventricle morphology Echo | LVIDd ICS | IMPC 4.02×10-05
Pex1
Pex1tm1e.1(EUCOMM)Hmgu
HET Early adult dilated heart left ventricle Echo | LVIDs HMGU | IMPC 4.18×10-05
Fam83h
Fam83hem1(IMPC)Ccpcz
HOM   Early adult decreased heart left ventricle size Echo | LVPWs CCP-IMG | IMPC 4.40×10-05
Leprotl1
Leprotl1tm1b(EUCOMM)Hmgu
HOM   Early adult abnormal heart left ventricle morphology Echo | End-Systolic Diameter MRC Harwell | IMPC 4.57×10-05
Phf8
Phf8tm1dIcs
HOM   Early adult abnormal heart left ventricle morphology Echo | LVIDd ICS | IMPC 4.71×10-05
Cenpv
Cenpvem1(IMPC)Hmgu
HOM   Early adult abnormal heart left ventricle morphology Echo | LVIDs HMGU | IMPC 5.34×10-05
Asb7
Asb7em1(IMPC)Ccpcz
HOM   Early adult abnormal heart left ventricle morphology Echo | LVIDs CCP-IMG | IMPC 5.35×10-05
Eftud2
Eftud2tm1b(KOMP)Wtsi
HET   Late adult abnormal heart left ventricle morphology Echo | LVIDd ICS | IMPC 5.66×10-05
Rnf19b
Rnf19bem1(IMPC)Ccpcz
HET   Early adult increased heart left ventricle size Echo | LVAWd CCP-IMG | IMPC 5.86×10-05
Khdrbs3
Khdrbs3tm1b(EUCOMM)Hmgu
HOM Early adult decreased heart left ventricle size Echo | LVPWs HMGU | IMPC 6.46×10-05
Arhgap40
Arhgap40tm1b(KOMP)Wtsi
HOM Early adult decreased heart left ventricle size Echo | LVAWd BCM | IMPC 6.65×10-05
Gm17359
Gm17359tm1b(EUCOMM)Hmgu
HOM Early adult decreased heart left ventricle size Echo | LVPWs BCM | IMPC 7.53×10-05
Bcl7a
Bcl7atm1b(EUCOMM)Wtsi
HET Early adult decreased heart left ventricle size Echo | LVPWs BCM | IMPC 7.57×10-05
Fmc1
Fmc1tm1b(EUCOMM)Wtsi
HET   Early adult dilated heart left ventricle Echo | End-Systolic Diameter BCM | IMPC 8.04×10-05
Il17rd
Il17rdtm1b(EUCOMM)Hmgu
HOM Early adult abnormal heart left ventricle morphology Echo | LVIDd MRC Harwell | IMPC 8.23×10-05
Scn2b
Scn2bem1(IMPC)Bay
HOM Early adult increased heart left ventricle size Echo | LVAWd BCM | IMPC 8.60×10-05
Tent5a
Tent5aem1(IMPC)Ccpcz
HOM   Early adult decreased heart left ventricle size Echo | LVAWd CCP-IMG | IMPC 9.50×10-05
Abhd3
Abhd3em1(IMPC)Marc
HOM   Early adult decreased heart left ventricle size Echo | LVAWd MARC | IMPC 9.77×10-05

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 The way we measure

Procedure
Echo

 Phenotype associations stats

4.66% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal heart left ventricle morphology (80/1716)

1.24% females (21/1695) 1.41% males (20/1423)

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