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CHN1 and arthrogryposis are reported together in 1 article.
Gene
CHN1
- HGNC
- HGNC:1943
8articles
8mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Arthrogryposis
30articles
30mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.
PMID 25173900 | DOI 10.1016/j.jaapos.2014.03.005 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2014 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CHN1 | “CCDDs have been associated with dominant or recessive monogenic mutations in at least 7 different genes (CHN1, SALL4, HOXA1, KIF21A, PHOX2A, TUBB3, ROBO3) that cause phenotypes such as Duane retraction syndrome, congenital fibrosis of the extraocular muscles, and horizontal gaze palsy with progressive scoliosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | arthrogryposis | “Recently, arthrogryposis with or without strabismus has been shown to be caused by recessive mutations in ECEL1, a gene likely involved in neuromuscular junction formation.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SALL4 | “CCDDs have been associated with dominant or recessive monogenic mutations in at least 7 different genes (CHN1, SALL4, HOXA1, KIF21A, PHOX2A, TUBB3, ROBO3) that cause phenotypes such as Duane retraction syndrome, congenital fibrosis of the extraocular muscles, and horizontal gaze palsy with progressive scoliosis.” | 0.98 | hgnc_dict_v1 |
| gene | HOXA1 | “CCDDs have been associated with dominant or recessive monogenic mutations in at least 7 different genes (CHN1, SALL4, HOXA1, KIF21A, PHOX2A, TUBB3, ROBO3) that cause phenotypes such as Duane retraction syndrome, congenital fibrosis of the extraocular muscles, and horizontal gaze palsy with progressive scoliosis.” | 0.98 | hgnc_dict_v1 |