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 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 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 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 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 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 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 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: 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 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: 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: C0152427
Disease: Polydactyly
Polydactyly 		0.330 GeneticVariation disease BEFREE To date variants in four genes GLI3, ZNF141, MIPOL1 and PITX1 have been implicated in developing non-syndromic form of polydactyly. 28488682 2017
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.330 GeneticVariation disease BEFREE Analysis of DNA from additional individuals with isolated lower-limb malformations and higher-degree polydactyly identified a third individual with long-bone deficiency and preaxial polydactyly harboring a heterozygous 35 bp deletion in PITX1. 22258522 2012
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.330 GeneticVariation disease BEFREE Heterozygous variants in the GLI3, ZRS/SHH, and PITX1 have been associated with autosomal dominant polydactyly, while homozygous variants in the ZNF141, IQCE, GLI1, and FAM92A have been associated with autosomal recessive polydactyly. 31115189 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.320 AlteredExpression disease BEFREE In sorafenib-treated tumor samples, we further found inhibition of PTP1B activity and up-regulation of the PITX1-p120RasGAP axis, suggesting that PTP1B inhibitor may be effective for the treatment of hepatocellular carcinoma. 26840794 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.320 AlteredExpression disease BEFREE Low levels of DAB2IP and PITX1 were detected mostly in a HCC subclass from patients with poor survival, indicating that these proteins control tumor aggressiveness. 21067840 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker disease BEFREE Association between SNPs and autism was only detected for PITX1. 18053270 2007
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME 		0.310 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: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Pituitary homeobox 1 (PITX1) functions as a tumor suppressor in hepatocarcinogenesis by regulating the expression level of Ras guanosine triphosphatase-activating protein. 26840794 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Fisher's exact indicated the upregulation of circ-PITX1 was associated with patients' tumor size and World Health Organization grade. 31069865 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Expression of the Tpit and Pitx1 genes were not restricted to ACTH-positive tumours but were also detected in many ACTH-negative carcinoids. 16382005 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE PITX1 expression may be involved in tumor progression and is a potential tumor suppressor gene and prognostic marker for cutaneous malignant melanoma. 27742032 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE MiR-675 is frequently overexpressed in gastric cancer and enhances cell proliferation and invasion via targeting a potent anti-tumor gene PITX1. 31260797 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Moreover, high miR-1204 and low PITX1 expression was highly correlated with tumor size, lymph node metastasis, and the TNM stage in patients diagnosed with NSCLC. 30549141 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Paired‑like homeodomain 1 (PITX1), which has been identified as a tumor suppressor, was found to be downregulated in ccRCC tissues and identified as a target gene of miR‑886‑3p. 25190136 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE An association between the lack of PITX1 mRNA expression and higher tumor grade was observed. 17157953 2007