PHOX2A
HGNC:691 · SaudiVarKB evidence summary derived from retained literature mentions.
8Gene mentions
8Publications
0Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in PHOX2A publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| arthrogryposis | — | 1 | 1 |
Linked variants
Variants normalized to PHOX2A| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 10 | 1 |
| Not specified | — | 10 | 1 |
| Not specified | — | 2 | 1 |
| Not specified | — | 15 | 1 |
| Saudi Arabia | — | 5 | 1 |
| Not specified | — | 14 | 1 |
| Not specified | — | 246 | 1 |
Supporting publications
8 records- 2016Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2.Ophthalmic geneticsPubMed ↗
- 2014The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusPubMed ↗
- 2011Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.Molecular visionPubMed ↗
- 2011The optic nerve head in congenital fibrosis of the extraocular muscles.Ophthalmic geneticsPubMed ↗
- 2011Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A.Archives of ophthalmology (Chicago, Ill. : 1960)PubMed ↗
- 2010Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.OphthalmologyPubMed ↗
- 2009Synergistic divergence: a distinct ocular motility dysinnervation pattern.Investigative ophthalmology & visual sciencePubMed ↗
- 2006Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.Brain : a journal of neurologyPubMed ↗