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: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor
0.410 Biomarker disease CTD_human Furthermore, PITX1, at 5q31.1, regulates TERT expression and is the third TGCT-associated locus implicated in telomerase regulation. 23666240 2013
CUI: C1861316
Disease: Radially deviated wrists
Radially deviated wrists
0.400 Biomarker phenotype HPO
CUI: C1861316
Disease: Radially deviated wrists
Radially deviated wrists
0.400 Biomarker phenotype GENOMICS_ENGLAND
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: 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 Biomarker disease GENOMICS_ENGLAND Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. 23022097 2012
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: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.320 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
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: 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: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.310 ChromosomalRearrangement disease ORPHANET 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: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.310 Biomarker disease BEFREE Association between SNPs and autism was only detected for PITX1. 18053270 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.310 Biomarker disease CTD_human Association between SNPs and autism was only detected for PITX1. 18053270 2007
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 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 Biomarker group BEFREE Both PITX1 exon 3 and lincRNA C5orf66-AS1 were significantly higher methylated in tumor tissue than in normal adjacent tissue (NAT) (PITX1 exon 3: tumor tissue 58.1%, NAT: 31.7%, p<0.001; lincRNA C5orf66-AS1: tumor tissue: 27.4%, NAT: 18.9%, p<0.001). 29425237 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE PITX1 has been identified as a potential tumor-suppressor gene in several malignant tumors. 29734189 2018
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 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 Biomarker group BEFREE Recently, the PITX1 gene has been considered as a tumor suppressor gene in various human cancers. 23816528 2015
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: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms
0.100 GeneticVariation group GWASCAT Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013
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