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Details of IMPDH1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| IMPDH1 | IMPD1 | P20839 | IMDH1_HUMAN | 3614
| B3KNP7
| B4DE09 | ENSG00000106348 |
Disease |
|---|
| Disease |
OMIM id |
| Retinitis pigmentosa 10 (RP10) [MIM:180105]: 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 |
146690 |
Leber congenital amaurosis 11 (LCA11) [MIM:613837]: A severe dystrophy of the retina |
sluggish or near-absent pupillary responses |
Phenotypes
Abnormal electroretinogram, Abnormal retinal pigmentation, Abnormal rod and cone electroretinograms, 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, Abnormality of vision, Absent rod-and cone-mediated responses on ERG, Age of onset, All, Autosomal dominant inheritance, Constricted visual fields, Fishnet retinal pigmentation, Hyperpigmentation of the fundus, Infantile onset, Mode of inheritance, Night blindness, Onset, Onset and clinical course, Phenotypic abnormality, Retinitis pigmentosa, Visual field defect.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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