Condition: Congenital clubfoot


rs1554333853 in CDK13 gene and Congenital clubfoot PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1135401744 in KYNU gene and Congenital clubfoot PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs121909109 in PITX1;C5orf66 gene and Congenital clubfoot PMID 18950742 2008 Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

PMID 22258522 2012 Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.

rs7969148 in RFLNA;ZNF664-RFLNA gene and Congenital clubfoot PMID 24667120 2014 Strongest evidence for an association of clubfoot was found with an intergenic SNP on chromosome 12q24.31 between NCOR2 and ZNF664 (rs7969148, OR=0.58, p=1.25×10⁻⁵) that was significant on replication (combined OR=0.63, p=1.90×10⁻⁷).

rs267607144 in TRPV4 gene and Congenital clubfoot PMID 22702953 2012 Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.

PMID 20037588 2010 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

PMID 20037586 2010 Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

PMID 24789864 2014 Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.