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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 |
|---|---|---|---|
| 103104235 | MONDO20786 | ||
| 102443363 | PELSI09615 | ||
| 114052750 | VOMUR15834 | ||
| 105880620 | MICMU03153 | ||
| 105714297 | AOTNA17474 | ||
| 101041496 | SAIBB06975 | ||
| 101972203 | ICTTR14601 | ||
| 101602236 | JACJA17419 | ||
| 118283155 | SCOMX07648 | ||
| 117023844 | RHIFE17783 |
