Species | Gene symbol | Count | Best | Best reverse | Method Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN |
---|---|---|---|---|---|
Mus musculus | Pde6h | 10 of 10 | Yes | Yes | ☑☑☑☑☑☑☑☑☑☑ |
Rattus norvegicus | Pde6h | 10 of 10 | Yes | Yes | ☑☑☑☑☑☑☑☑☑☑ |
Xenopus laevis | pde6h.L | 1 of 1 | Yes | Yes | ☑ |
Xenopus laevis | pde6h.S | 1 of 1 | Yes | Yes | ☑ |
Xenopus tropicalis | pde6h | 7 of 9 | Yes | Yes | ☑ ☑☐☑☑☑☑☑☐ |
Danio rerio | pde6ga | 3 of 10 | Yes | Yes | ☐ ☐☐☑☑☐☑☐☐ ☐ |
Danio rerio | pde6ha | 1 of 10 | No | Yes | ☐ ☐☐☐☐☐☐☐☐ ☑ |
Gene symbol | Rank | Alignment Length (aa) | Similarity % | Identity % | Method Count | Method Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD |
---|---|---|---|---|---|---|
PDE6G | 1 | 69 | 99 | 94 | 5 of 8 | ☑ ☐☑☑☐☑☑☐ |
Phenotype Term | Annotation details | References |
---|---|---|
Abnormal light-adapted flicker electroretinogram | ||
Abnormal macular morphology | ||
Abnormal pupillary light reflex | ||
Abnormality of refraction | ||
Absent foveal reflex | ||
Attenuation of retinal blood vessels | ||
Autosomal dominant inheritance | ||
Autosomal recessive inheritance | ||
Central scotoma | ||
Color vision defect |
all annotations | all disease by infectious agent | bacterial infectious disease | fungal infectious disease | parasitic infectious disease | viral infectious disease | all disease of anatomical entity | cardiovascular system disease | central nervous system disease | endocrine system disease | gastrointestinal system disease | hematopoietic system disease | immune system disease | integumentary system disease | musculoskeletal system disease | peripheral nervous system disease | reproductive system disease | respiratory system disease | sensory system disease | thoracic disease | urinary system disease | all disease of cellular proliferation | benign neoplasm | cancer | pre-malignant neoplasm | all genetic disease | chromosomal disease | monogenic disease | polygenic disease | all other disease | disease of mental health | disease of metabolism | physical disorder | syndrome | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE6H (Hsa) |
Gene | Association | Disease Qualifier | Disease | Evidence | Source | Based On | References |
---|---|---|---|---|---|---|---|
PDE6H | is implicated in | retinal cone dystrophy 3A |
|
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
---|---|---|---|---|---|---|---|
NC_000012.12:g.14979229C>G | variant | SNP
| |||||
NC_000012.12:g.14981381C>G | variant | SNP
| |||||
NC_000012.12:g.14978065C>T | variant | SNP
| |||||
NC_000012.12:g.14978111A>G | variant | SNP
| |||||
NC_000012.12:g.14979175A>G | variant | SNP
| |||||
NC_000012.12:g.14981464T>C | variant | SNP
| |||||
NC_000012.12:g.14979174C>T | variant | SNP
| |||||
NC_000012.12:g.14978044C>T | variant | SNP
| |||||
NC_000012.12:g.14981400A>G | variant | SNP
| |||||
NC_000012.12:g.14981452G>A | variant | SNP
|
all annotations | all anatomical structures | alimentary part of gastrointestinal system | chemosensory system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | mechanosensory system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | vestibulo-auditory system | visual system | endoderm | ectoderm | mesoderm | mesenchyme | adipose tissue | appendage | entire extraembryonic component | imaginal precursor | pharyngeal arch | other | all stages | embryo stage | post embryonic, pre-adult | post-juvenile adult stage | all cellular components | extracellular region | plasma membrane | synapse | cell junction | cell projection | cytoplasmic vesicle | endosome | vacuole | golgi apparatus | endoplasmic reticulum | cytosol | mitochondrion | nucleus | chromosome | cytoskeleton | protein-containing complex | other locations | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE6H (Hsa) |
PDE6H molecule type | Interactor gene | Interactor species | Interactor molecule type | Detection methods | Source | Reference |
---|---|---|---|---|---|---|
protein | AGTR1 | Homo sapiens | protein |
| PMID:25416956 | |
protein | APP | Homo sapiens | protein |
| PMID:21832049 | |
protein | CHAT | Homo sapiens | protein |
| PMID:32814053 | |
protein | CHAT | Homo sapiens | protein |
| PMID:32814053 | |
protein | CHAT | Homo sapiens | protein |
| PMID:32814053 | |
protein | COTL1 | Homo sapiens | protein |
| PMID:25416956 | |
protein | CYLD | Homo sapiens | protein |
| PMID:27591049 | |
protein | FGFR3 | Homo sapiens | protein |
| PMID:32814053 | |
protein | FGFR3 | Homo sapiens | protein |
| PMID:32814053 | |
protein | FGFR3 | Homo sapiens | protein |
| PMID:32814053 |