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Details of PRPF31 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PRPF31 | PRP31 | Q8WWY3 | PRP31_HUMAN | 26121
| Q9H271
| Q9Y439 | Retinitis pigment |
Disease |
|---|
| Disease |
OMIM id |
| Retinitis pigmentosa 11 (RP11) [MIM:600138]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses |
606419 |
Phenotypes
Abnormal retinal pigmentation, Abnormality of the eye, Abnormality of the fundus, Abnormality of the posterior segment of the eye, Abnormality of the retina, Abnormality of the retinal pigment epithelium, All, Autosomal dominant inheritance, Mode of inheritance, Phenotypic abnormality, Retinitis pigmentosa.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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