Definition
change in the normal pigmentation of the eye to another color, or lack of color
Synonyms
abnormal ocular pigmentation
0%
of tested genes
0
significant genes
0
tested genes
IMPC Gene variants with abnormal eye pigmentation
Total number of significant genotype-phenotype associations: 50
| Gene / Allele | Zygosity | Sex | Life Stage | Phenotype | Parameter | Phenotyping Center |
P Value |
|---|---|---|---|---|---|---|---|
| Spns2 Spns2tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal eye pigmentation | Eye colouration Dysmorphology |
WTSI EuroPhenome |
4.04×10-25 | |
| Hps5 Hps5em1(IMPC)J |
HOM | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
JAX IMPC |
1.52×10-20 | |
| Hsf4 Hsf4tm1b(KOMP)Wtsi |
HOM | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
JAX IMPC |
5.12×10-20 | |
| Dtnbp1 Dtnbp1tm1b(EUCOMM)Hmgu |
HOM | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
TCP IMPC |
1.35×10-18 | |
| Abi2 Abi2tm1b(EUCOMM)Wtsi |
HOM | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
TCP IMPC |
9.04×10-18 | |
| Col18a1 Col18a1tm1.1(KOMP)Vlcg |
HOM | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
JAX IMPC |
7.81×10-16 | |
| Eddm3b Eddm3btm1b(KOMP)Wtsi |
HOM | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
MARC IMPC |
3.54×10-10 | |
| Slc9a8 Slc9a8tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Right Retina Pigmentation Ophthalmoscope |
WTSI MGP |
2.06×10-09 | |
| Bloc1s5 Bloc1s5em1(IMPC)Tcp |
HOM | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
TCP IMPC |
2.27×10-08 | |
| Aasdhppt Aasdhppttm1.1(KOMP)Vlcg |
HET | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
JAX IMPC |
2.74×10-08 | |
| Diaph3 Diaph3tm1b(KOMP)Mbp |
HET | Late adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
JAX IMPC |
1.81×10-07 | |
| Trnt1 Trnt1tm1a(EUCOMM)Hmgu |
HET | Early adult | abnormal retina pigmentation | Left retina pigmentation Indirect ophthalmoscopy |
HMGU EuroPhenome |
4.48×10-07 | |
| Uhrf1 Uhrf1tm1a(EUCOMM)Wtsi |
HET | Early adult | abnormal retina pigmentation | Left retina pigmentation Indirect ophthalmoscopy |
HMGU EuroPhenome |
4.48×10-07 | |
| Cadm1 Cadm1tm1a(EUCOMM)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left Retina Pigmentation Ophthalmoscope |
WTSI MGP |
2.10×10-06 | |
| Peds1 Peds1tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left Retina Pigmentation Ophthalmoscope |
WTSI MGP |
2.35×10-06 | |
| Epb41l1 Epb41l1tm1b(EUCOMM)Wtsi |
HOM | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
JAX IMPC |
2.71×10-06 | |
| Plekha5 Plekha5em1(IMPC)Tcp |
HOM | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
TCP IMPC |
2.81×10-06 | |
| Fgf10 Fgf10tm1b(EUCOMM)Wtsi |
HET | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
MRC Harwell IMPC |
2.82×10-06 | |
| Asns Asnstm1a(EUCOMM)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left retina pigmentation Indirect ophthalmoscopy |
MRC Harwell EuroPhenome |
4.77×10-06 | |
| Retreg3 Retreg3tm2a(EUCOMM)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left Retina Pigmentation Ophthalmoscope |
WTSI EuroPhenome |
5.34×10-06 | |
| Kat14 Kat14tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal eye pigmentation | Eye colouration Dysmorphology |
WTSI EuroPhenome |
5.90×10-06 | |
| Arhgap25 Arhgap25tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left Retina Pigmentation Ophthalmoscope |
WTSI MGP |
6.67×10-06 | |
| Setmar Setmartm1a(EUCOMM)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Right Retina Pigmentation Ophthalmoscope |
WTSI EuroPhenome |
7.35×10-06 | |
| Ppat Ppatem1(IMPC)Tcp |
HET | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
TCP IMPC |
1.23×10-05 | |
| Nfya NfyaGt(EUCJ0004f10)Hmgu |
HET | Early adult | abnormal retina pigmentation | Left retina pigmentation Indirect ophthalmoscopy |
HMGU EuroPhenome |
1.63×10-05 | |
| Frmd5 Frmd5tm1a(EUCOMM)Hmgu |
HOM | Early adult | abnormal retina pigmentation | Right retina pigmentation Indirect ophthalmoscopy |
HMGU EuroPhenome |
1.90×10-05 | |
| Pus1 Pus1em1(IMPC)J |
HOM | Late adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
JAX IMPC |
2.42×10-05 | |
| Kdm8 Kdm8tm1a(EUCOMM)Wtsi |
HET | Early adult | abnormal iris pigmentation | Iris pigment Slit Lamp |
ICS EuroPhenome |
2.79×10-05 | |
| Trip13 Trip13tm1.1(KOMP)Vlcg |
HOM | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
JAX IMPC |
2.82×10-05 | |
| Svep1 Svep1tm1b(EUCOMM)Hmgu |
HET | Late adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
JAX IMPC |
3.27×10-05 | |
| Epc2 Epc2tm1a(EUCOMM)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left retina pigmentation Indirect ophthalmoscopy |
HMGU EuroPhenome |
4.95×10-05 | |
| Ik Ikem2(IMPC)Kmpc |
HET | Late adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
KMPC IMPC |
5.02×10-05 | |
| Slc30a8 Slc30a8tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Right Retina Pigmentation Ophthalmoscope |
WTSI MGP |
5.96×10-05 | |
| Ccdc28a Ccdc28atm3b(EUCOMM)Wtsi |
HOM | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
JAX IMPC |
7.29×10-05 | |
| Mysm1 Mysm1tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left retina pigmentation Indirect ophthalmoscopy |
HMGU EuroPhenome |
8.19×10-05 | |
| Sars1 Sars1tm1.1(KOMP)Vlcg |
HET | Early adult | abnormal iris pigmentation | Iris Pigmentation Eye Morphology |
JAX IMPC |
8.43×10-05 |