PITX1, paired like homeodomain 1, 5307

N. diseases: 109; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 AlteredExpression disease BEFREE MATERIAL AND METHODS We used tibialis anterior tendon samples to detect the expression of Pitx1 in idiopathic and neurogenic clubfoot patients. 31527569 2019
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 GeneticVariation disease BEFREE Variants in genes that code for contractile proteins of skeletal myofibers might play a role in the aetiology of TEV but, to date, no strong candidate genes conferring increased risk have emerged, although variants in TBX4, PITX1, HOXA, HOXC and HOXD clusters genes, NAT2 and others have been shown to be associated with TEV. 28919208 2018
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 Biomarker disease GENOMICS_ENGLAND Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics. 23587911 2013
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 Biomarker disease BEFREE There were no obvious candidate genes for the specific correlation with the phenotypes except a PITX1 gene associated with the phenotype of club feet. 22178765 2012
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 Biomarker disease GENOMICS_ENGLAND The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly. 22258522 2012
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 Biomarker disease GENOMICS_ENGLAND Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. 23022097 2012
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 GeneticVariation disease BEFREE The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly. 22258522 2012
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 GeneticVariation disease UNIPROT The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly. 22258522 2012
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 Biomarker disease MGD Clubfoot was unilateral in 16 of the 20 affected Pitx1(+/-) mice, with the right and left limbs equally affected, in contrast to right-sided predominant hindlimb abnormalities previously noted with complete loss of Pitx1. 21775501 2011
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 AlteredExpression disease BEFREE Haploinsufficiency of PITX1, a transcription factor important for limb development, is likely the cause for the club feet, skeletal anomalies, and cleft/high palate, while additional genes, including SMAD5 and WNT8A, may also contribute to additional phenotypic features. 21744490 2011
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 Biomarker disease BEFREE Clubfoot was unilateral in 16 of the 20 affected Pitx1(+/-) mice, with the right and left limbs equally affected, in contrast to right-sided predominant hindlimb abnormalities previously noted with complete loss of Pitx1. 21775501 2011
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 GeneticVariation disease UNIPROT The propensity for right-sided involvement in tibial hemimelia and clubfoot suggests that PITX1, or pathways involving PITX1, may be involved in their etiology. 18950742 2008
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 Biomarker disease BEFREE The propensity for right-sided involvement in tibial hemimelia and clubfoot suggests that PITX1, or pathways involving PITX1, may be involved in their etiology. 18950742 2008
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 Biomarker disease CTD_human
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 CausalMutation disease CLINVAR
CUI: C1861313
Disease: Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 		0.620 GeneticVariation disease BEFREE We discuss the genetic abnormality that causes Liebenberg syndrome, the genomic rearrangement at the PITX1 locus on chromosome 5.The structural variations seem to result in an ectopic expression of paired-like homeodomain transcription factor 1 (PITX1) in the forelimb causing a partial arm-to-leg transformation in these patients. 23940102 2014
CUI: C1861313
Disease: Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 		0.620 Biomarker disease GENOMICS_ENGLAND We therefore re-define the phenotype of Liebenberg syndrome as a transformation of the upper limbs to reflect lower limb characteristics and speculate that the area of deletion contains a regulatory sequence that suppresses the expression of PITX1 in the upper limb buds. 23587911 2013
CUI: C1861313
Disease: Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 		0.620 AlteredExpression disease BEFREE We therefore re-define the phenotype of Liebenberg syndrome as a transformation of the upper limbs to reflect lower limb characteristics and speculate that the area of deletion contains a regulatory sequence that suppresses the expression of PITX1 in the upper limb buds. 23587911 2013
CUI: C1861313
Disease: Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 		0.620 Biomarker disease GENOMICS_ENGLAND Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. 23022097 2012
CUI: C1861313
Disease: Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 		0.620 GermlineCausalMutation disease ORPHANET Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. 23022097 2012
CUI: C1861313
Disease: Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 		0.620 Biomarker disease CTD_human
CUI: C1861313
Disease: Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 		0.620 Biomarker disease GENOMICS_ENGLAND
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.410 Biomarker disease BEFREE Furthermore, PITX1, at 5q31.1, regulates TERT expression and is the third TGCT-associated locus implicated in telomerase regulation. 23666240 2013
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.410 GeneticVariation disease GWASDB Furthermore, PITX1, at 5q31.1, regulates TERT expression and is the third TGCT-associated locus implicated in telomerase regulation. 23666240 2013