Phenotype: abnormal spine curvature

Definition
deviation from the typical S-shape of the spine
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with abnormal spine curvature

Total number of significant genotype-phenotype associations: 76

Gene / Allele Zygosity Sex Life Stage Phenotype Parameter Phenotyping
Center
P Value
Sik3
Sik3tm1a(EUCOMM)Hmgu
HOM Early adult abnormal spine curvature Shape of spine
X-ray
WTSI
IMPC
2.50×10-11
Ccnd2
Ccnd2tm1b(KOMP)Mbp
HOM Early adult abnormal spine curvature Shape of spine
X-ray
MRC Harwell
IMPC
1.18×10-10
Sik3
Sik3tm1a(EUCOMM)Hmgu
HOM Early adult kyphosis Kyphosis
X-ray
WTSI
IMPC
2.71×10-10
Uchl1
Uchl1tm1b(EUCOMM)Hmgu
HET Early adult abnormal spine curvature Shape of spine
X-ray
MRC Harwell
IMPC
1.77×10-08
Slc20a2
Slc20a2tm1a(EUCOMM)Wtsi
HOM Early adult kyphosis Kyphosis
X-ray
WTSI
IMPC
5.58×10-08
Fgf14
Fgf14em1(IMPC)Ccpcz
HOM   Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
2.11×10-07
Krtap8-1
Krtap8-1em1(IMPC)Ccpcz
HOM Early adult lordosis Lordosis
X-ray
CCP-IMG
IMPC
2.24×10-07
Cer1
Cer1em1(IMPC)Ccpcz
HOM   Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
3.05×10-07
Krt27
Krt27em1(IMPC)Ccpcz
HOM Early adult lordosis Lordosis
X-ray
CCP-IMG
IMPC
5.77×10-07
Slc20a2
Slc20a2tm1a(EUCOMM)Wtsi
HOM Early adult abnormal spine curvature Shape of spine
X-ray
WTSI
IMPC
6.47×10-07
Prss35
Prss35em1(IMPC)Ccpcz
HOM Early adult lordosis Lordosis
X-ray
CCP-IMG
IMPC
6.86×10-07
Ccnd2
Ccnd2tm1b(KOMP)Mbp
HOM Late adult abnormal spine curvature Shape of spine
X-ray
MRC Harwell
IMPC
1.61×10-06
Ddi2
Ddi2tm1b(EUCOMM)Hmgu
HET   Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
1.96×10-06
Tent5a
Tent5aem1(IMPC)Ccpcz
HOM   Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
1.96×10-06
Rnf14
Rnf14em1(IMPC)Ccpcz
HOM   Early adult lordosis Lordosis
X-ray
CCP-IMG
IMPC
2.13×10-06
Calb1
Calb1em1(IMPC)Ccpcz
HOM Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
2.35×10-06
Mfng
Mfngem1(IMPC)Ccpcz
HOM Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
2.35×10-06
Tram2
Tram2tm1a(KOMP)Wtsi
HOM Early adult kyphosis Kyphosis
X-ray
WTSI
IMPC
2.92×10-06
Bbip1
Bbip1em1(IMPC)Ccpcz
HET   Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
3.11×10-06
Bmp6
Bmp6em1(IMPC)Ccpcz
HOM   Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
3.11×10-06
Zc3h8
Zc3h8em1(IMPC)Ccpcz
HET   Early adult lordosis Lordosis
X-ray
CCP-IMG
IMPC
3.61×10-06
Ak7
Ak7em1(IMPC)Ccpcz
HET   Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
3.90×10-06
Nisch
Nischtm1b(EUCOMM)Hmgu
HOM Early adult abnormal spine curvature Shape of spine
X-ray
MRC Harwell
IMPC
4.45×10-06
Bbip1
Bbip1em1(IMPC)Ccpcz
HET   Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
6.29×10-06
Bmp6
Bmp6em1(IMPC)Ccpcz
HOM   Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
6.29×10-06
Mir129-2
Mir129-2em1(IMPC)Kmpc
HOM Late adult abnormal spine curvature Shape of spine
X-ray
KMPC
IMPC
7.30×10-06
Rnf168
Rnf168tm2b(EUCOMM)Hmgu
HOM   Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
7.34×10-06
Ropn1l
Ropn1ltm1b(EUCOMM)Wtsi
HOM Early adult kyphosis Kyphosis
X-ray
WTSI
IMPC
7.53×10-06
Wdr37
Wdr37tm1a(KOMP)Wtsi
HOM Early adult kyphosis Kyphosis
X-ray
WTSI
IMPC
7.53×10-06
Arg2
Arg2em1(IMPC)Ccpcz
HOM   Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
8.98×10-06
Cer1
Cer1em1(IMPC)Ccpcz
HOM   Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
8.98×10-06
Arg2
Arg2em1(IMPC)Ccpcz
HOM   Early adult lordosis Lordosis
X-ray
CCP-IMG
IMPC
9.21×10-06
Brinp3
Brinp3em1(IMPC)Ccpcz
HOM   Early adult lordosis Lordosis
X-ray
CCP-IMG
IMPC
9.21×10-06
Btbd7
Btbd7em1(IMPC)Ccpcz
HOM   Early adult lordosis Lordosis
X-ray
CCP-IMG
IMPC
9.21×10-06
Prss54
Prss54em1(IMPC)Ccpcz
HOM Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
9.72×10-06
Tram2
Tram2tm1a(KOMP)Wtsi
HOM Early adult abnormal spine curvature Shape of spine
X-ray
WTSI
IMPC
1.08×10-05
Zc2hc1c
Zc2hc1cem1(IMPC)Ccpcz
HOM Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
1.16×10-05
Pstpip1
Pstpip1em1(IMPC)Ccpcz
HOM Early adult lordosis Lordosis
X-ray
CCP-IMG
IMPC
1.29×10-05
Prss21
Prss21em1(IMPC)Ccpcz
HET   Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
1.43×10-05
Tpte
Tpteem1(IMPC)Kmpc
HOM Early adult kyphosis Kyphosis
X-ray
KMPC
IMPC
1.51×10-05
Tpte
Tpteem1(IMPC)Kmpc
HOM Early adult abnormal spine curvature Shape of spine
X-ray
KMPC
IMPC
1.51×10-05
Kcnv2
Kcnv2tm1Wtsi
HOM Early adult kyphosis Kyphosis
X-ray
WTSI
IMPC
1.79×10-05
Fam53a
Fam53aem1(IMPC)Ccpcz
HOM Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
1.85×10-05
Prss54
Prss54em1(IMPC)Ccpcz
HOM Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
1.85×10-05
Mbd1
Mbd1em1(IMPC)Wtsi
HOM Early adult lordosis Lordosis
X-ray
WTSI
IMPC
1.90×10-05
Krt72
Krt72em1(IMPC)Ccpcz
HOM Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
2.05×10-05
Rnf148
Rnf148em1(IMPC)Ccpcz
HOM Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
2.05×10-05
Calb1
Calb1em1(IMPC)Ccpcz
HOM Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
2.51×10-05
Mfng
Mfngem1(IMPC)Ccpcz
HOM Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
2.51×10-05
Krt72
Krt72em1(IMPC)Ccpcz
HOM Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
2.64×10-05
Rnf148
Rnf148em1(IMPC)Ccpcz
HOM Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
2.64×10-05
Prss21
Prss21em1(IMPC)Ccpcz
HET   Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
2.70×10-05
Klhl1
Klhl1em1(IMPC)Ccpcz
HOM   Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
2.86×10-05
Adk
Adkem1(IMPC)Ccpcz
HET   Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
3.04×10-05
Fam221a
Fam221aem1(IMPC)Ccpcz
HOM   Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
3.04×10-05
Fgf14
Fgf14em1(IMPC)Ccpcz
HOM Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
3.67×10-05
Prss35
Prss35em1(IMPC)Ccpcz
HOM   Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
3.71×10-05
Tent5a
Tent5aem1(IMPC)Ccpcz
HOM Early adult scoliosis Scoliosis
X-ray
CCP-IMG
IMPC
4.35×10-05
Dnase1l2
Dnase1l2tm1.1(KOMP)Wtsi
HOM Early adult abnormal spine curvature Shape of spine
X-ray
WTSI
IMPC
5.04×10-05
H2-Eb1
H2-Eb1b-tm1a(KOMP)Wtsi
HOM Early adult abnormal spine curvature Shape of spine
X-ray
WTSI
IMPC
5.04×10-05
Pabpc4
Pabpc4tm1a(KOMP)Wtsi
HOM Early adult abnormal spine curvature Shape of spine
X-ray
WTSI
IMPC
5.04×10-05
Ropn1l
Ropn1ltm1b(EUCOMM)Wtsi
HOM Early adult abnormal spine curvature Shape of spine
X-ray
WTSI
IMPC
5.04×10-05
Selenok
Selenoktm1b(EUCOMM)Wtsi
HOM Early adult abnormal spine curvature Shape of spine
X-ray
WTSI
IMPC
5.04×10-05
Wdr37
Wdr37tm1a(KOMP)Wtsi
HOM Early adult abnormal spine curvature Shape of spine
X-ray
WTSI
IMPC
5.04×10-05
Fnip1
Fnip1em1(IMPC)Ccpcz
HOM   Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
5.36×10-05
Fam221a
Fam221aem1(IMPC)Ccpcz
HOM   Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
5.71×10-05
Prss21
Prss21em1(IMPC)Ccpcz
HET   Early adult lordosis Lordosis
X-ray
CCP-IMG
IMPC
7.34×10-05
Arg2
Arg2em1(IMPC)Ccpcz
HOM Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
7.66×10-05
Klhl1
Klhl1em1(IMPC)Ccpcz
HOM Early adult kyphosis Kyphosis
X-ray
CCP-IMG
IMPC
7.66×10-05
Ak7
Ak7em1(IMPC)Ccpcz
HET   Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
8.11×10-05
Vgll3
Vgll3em1(IMPC)H
HOM Early adult abnormal spine curvature Shape of spine
X-ray
MRC Harwell
IMPC
9.20×10-05
Zc2hc1c
Zc2hc1cem1(IMPC)Ccpcz
HOM Early adult abnormal spine curvature Shape of spine
X-ray
CCP-IMG
IMPC
9.29×10-05

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 The way we measure

 Phenotype associations stats

3.66% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal spine curvature (46/1257)

1.08% females (14/1295) 1.62% males (21/1296)

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