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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:0007984 | Electronegative electroretinogram |
| HP:0011003 | High myopia |
| HP:0011463 | Childhood onset |
| HP:0012047 | Hemeralopia |
| 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 |
|---|---|---|---|
| 101136290 | GORGO43229 | ||
| 473571 | PANTR45808 | ||
| 100447681 | PONAB38085 | ||
| 112929987 | VULVU25212 | ||
| 123796274 | URSAM23939 | ||
| 101678972 | MUSPF12387 | ||
| 101086042 | FELCA39633 | ||
| 101330529 | TURTR03835 | ||
| 118888894 | BALMU19084 | ||
| 100670644 | LOXAF06603 |
