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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
nyctalopin
Summary
- Gene Symbol
-
- NYX
- Aliases
-
- CLRP
- CSNB1A
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Congenital stationary night blindness
- Disease variant
- Extracellular matrix
- Leucine-rich repeat
- Proteoglycan
- Reference proteome
- Repeat
- Signal
- Vision
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9GZU5 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| biological_process | ||
| visual perception |
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular matrix | ||
| extracellular space |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| molecular_function |
GO Hierarchy
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:9650 | pathologic nystagmus | |
| DOID:9837 | hypertropia | |
| DOID:0050534 | congenital stationary night blindness | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:0050817 | Stargardt disease | |
| DOID:0060215 | Balo concentric sclerosis | |
| DOID:0090059 | enhanced S-cone syndrome | |
| DOID:0110008 | achromatopsia 3 | |
| DOID:0110078 | Leber congenital amaurosis 1 | |
| DOID:0110865 | congenital stationary night blindness 1B |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000486 | Strabismus |
| HP:0000540 | Hypermetropia |
| HP:0000545 | Myopia |
| HP:0000551 | Color vision defect |
| HP:0000639 | Nystagmus |
| HP:0000662 | Nyctalopia |
| HP:0001419 | X-linked recessive inheritance |
| HP:0007642 | Congenital stationary night blindness |
| HP:0007663 | Reduced visual acuity |
| HP:0007703 | Abnormality of retinal pigmentation |
| Disease ID | Disease Name |
|---|---|
| OMIM:310500 |
|
| ORPHA:215 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100620950 | PIGXX37182 | ||
| 101904567 | BOVIN37210 | ||
| 102180385 | CAPHI31482 | ||
| 100343596 | RABIT13427 | ||
| 105996657 | DIPOR18209 | ||
| 236690 | MGI:2448607 | MOUSE66532 | |
| 302516 | RGD:1561300 | RATNO44481 | |
| 100716819 | CAVPO14390 | ||
| 101580719 | OCTDE24161 | ||
| 101872033 | MELUD03316 |
