Definition
abnormal location of the pupil so that it is not in the center of the iris
Synonyms
ectopic pupil,
corectopia
0%
of tested genes
0
significant genes
0
tested genes
IMPC Gene variants with abnormal placement of pupils
Total number of significant genotype-phenotype associations: 18
| Gene / Allele | Zygosity | Sex | Life Stage | Phenotype | Parameter | Phenotyping Center |
P Value |
|---|---|---|---|---|---|---|---|
| Ppp2r5c Ppp2r5cem1(IMPC)Mbp |
HOM | Early adult | abnormal placement of pupils | Pupil Position Eye Morphology |
UC Davis IMPC |
3.65×10-11 | |
| Adamtsl4 Adamtsl4em1(IMPC)J |
HOM | Late adult | abnormal placement of pupils | Pupil Position Eye Morphology |
JAX IMPC |
1.14×10-07 | |
| Diaph3 Diaph3tm1b(KOMP)Mbp |
HET | Late adult | abnormal placement of pupils | Pupil Position Eye Morphology |
JAX IMPC |
1.08×10-06 | |
| Plekha5 Plekha5em1(IMPC)Tcp |
HOM | Early adult | abnormal placement of pupils | Pupil Position Eye Morphology |
TCP IMPC |
1.25×10-06 | |
| Sema3e Sema3eem1(IMPC)H |
HOM | Early adult | abnormal placement of pupils | Pupil Position Eye Morphology |
MRC Harwell IMPC |
1.29×10-05 | |
| Snip1 Snip1tm1a(EUCOMM)Wtsi |
HET | Early adult | abnormal placement of pupils | Iris/pupil position Slit Lamp |
MRC Harwell EuroPhenome |
1.54×10-05 | |
| Fgf10 Fgf10tm1b(EUCOMM)Wtsi |
HET | Early adult | abnormal placement of pupils | Pupil Position Eye Morphology |
MRC Harwell IMPC |
1.65×10-05 | |
| Smoc1 Smoc1tm1b(EUCOMM)Wtsi |
HOM | Early adult | abnormal placement of pupils | Pupil Position Eye Morphology |
MRC Harwell IMPC |
2.15×10-05 | |
| R3hcc1l R3hcc1ltm1b(KOMP)Wtsi |
HOM | Early adult | abnormal placement of pupils | Pupil Position Eye Morphology |
JAX IMPC |
2.15×10-05 | |
| Cyb561 Cyb561tm1a(EUCOMM)Wtsi |
HOM | Early adult | abnormal placement of pupils | Iris/pupil position Slit Lamp |
MRC Harwell EuroPhenome |
2.35×10-05 | |
| Ppat Ppatem1(IMPC)Tcp |
HET | Early adult | abnormal placement of pupils | Pupil Position Eye Morphology |
TCP IMPC |
3.07×10-05 | |
| U2af1 U2af1em1(IMPC)J |
HET | Early adult | abnormal placement of pupils | Pupil Position Eye Morphology |
JAX IMPC |
3.98×10-05 | |
| Col18a1 Col18a1tm1.1(KOMP)Vlcg |
HOM | Early adult | abnormal placement of pupils | Pupil Position Eye Morphology |
JAX IMPC |
4.37×10-05 | |
| Fbn2 Fbn2em1(IMPC)Rbrc |
HOM | Early adult | abnormal placement of pupils | Pupil Position Eye Morphology |
RBRC IMPC |
5.77×10-05 | |
| Trpm7 Trpm7tm1b(KOMP)Wtsi |
HET | Early adult | abnormal placement of pupils | Pupil Position Eye Morphology |
MRC Harwell IMPC |
6.96×10-05 | |
| Ptpn18 Ptpn18em1(IMPC)J |
HET | Early adult | abnormal placement of pupils | Pupil Position Eye Morphology |
JAX IMPC |
8.03×10-05 | |
| Fgf7 Fgf7tm1e.1(EUCOMM)Hmgu |
HOM | Early adult | abnormal placement of pupils | Pupil Position Eye Morphology |
MRC Harwell IMPC |
8.56×10-05 |