CHN1, chimerin 1, 1123

N. diseases: 112; N. variants: 13
Disease: Duane Retraction Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 GeneticVariation disease BEFREE CHN1 gene mutation analysis in patients with Duane retraction syndrome. 29031989 2017
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 GeneticVariation disease BEFREE Duane retraction syndrome (DRS) is the most common form of congenital paralytic strabismus in humans and can result from α2-chimaerin (CHN1) missense mutations. 28346224 2017
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 Biomarker disease BEFREE Genetic analysis of 2 pedigrees revealed 2 novel DRS mutations, bringing the number of DRS pedigrees known to harbor CHN1 from 7 to 9. 21555619 2011
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 GeneticVariation disease BEFREE Analysis of the current pedigree expands the phenotypic spectrum of hyperactivating CHN1 mutations to include vertical strabismus and supraduction deficits in the absence of Duane retraction syndrome. 21715346 2011
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 GeneticVariation disease BEFREE DNA samples of patients suffering from DRS (n = 5), Brown syndrome (n = 13), other congenital motility disorders of the oblique eye muscles (n = 6), double elevator palsy (n = 4), and vertical retraction syndrome (n = 1) were investigated by direct sequencing of all coding exons of CHN1. 20535495 2010
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 GeneticVariation disease BEFREE We describe the clinical phenotype of a Mexican family segregating Duane syndrome as an autosomal-dominant trait linked to chromosome 2q31 (DURS2) and previously reported to harbor a heterozygous alpha2-chimaerin missense mutation. 19541263 2009
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 GeneticVariation disease LHGDN Studying families with a variant form of the disorder (DURS2-DRS), we have identified causative heterozygous missense mutations in CHN1, a gene on chromosome 2q31 that encodes alpha2-chimaerin, a Rac guanosine triphosphatase-activating protein (RacGAP) signaling protein previously implicated in the pathfinding of corticospinal axons in mice. 18653847 2008
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 GeneticVariation disease BEFREE Studying families with a variant form of the disorder (DURS2-DRS), we have identified causative heterozygous missense mutations in CHN1, a gene on chromosome 2q31 that encodes alpha2-chimaerin, a Rac guanosine triphosphatase-activating protein (RacGAP) signaling protein previously implicated in the pathfinding of corticospinal axons in mice. 18653847 2008
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 GermlineCausalMutation disease ORPHANET Studying families with a variant form of the disorder (DURS2-DRS), we have identified causative heterozygous missense mutations in CHN1, a gene on chromosome 2q31 that encodes alpha2-chimaerin, a Rac guanosine triphosphatase-activating protein (RacGAP) signaling protein previously implicated in the pathfinding of corticospinal axons in mice. 18653847 2008
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 GeneticVariation disease LHGDN Therefore, DURS2-linked DRS is a diffuse congenital cranial dysinnervation disorder involving but not limited to CN6. 17197533 2007
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 Biomarker disease BEFREE The affected members represent a genetically defined population of DURS2-linked DRS individuals, and hence studies of their clinical and structural features can enhance understanding of the DURS2 phenotype, as described in the companion paper. 17197532 2007
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 Biomarker disease BEFREE Therefore, DURS2-linked DRS is a diffuse congenital cranial dysinnervation disorder involving but not limited to CN6. 17197533 2007
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 GeneticVariation disease BEFREE This endophenotype is more limited than reported in DURS2-linked Duane syndrome (On-line Mendelian Inheritance in Man, OMIM 604356) and CFEOM1 (OMIM 135700), which are clinically similar congenital cranial dysinnervation disorders that also feature CN3 hypoplasia and more widespread EOM abnormalities. 18055799 2007
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 Biomarker disease HPO
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.700 Biomarker disease CTD_human