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 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 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 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: 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: 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
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: 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 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 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: C1456246
Disease: Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site 		0.080 GeneticVariation disease BEFREE A rapid real-time PCR (RT-PCR) approach was developed to detect the bft gene subtypes in Bacteroides fragilis isolated from fecal samples. 20980581 2011
CUI: C1456246
Disease: Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site 		0.080 GeneticVariation disease BEFREE Evaluation of the prevalence of enterotoxigenic Bacteroides fragilis and the distribution bft gene subtypes in patients with diarrhea. 20709181 2010
CUI: C1456246
Disease: Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site 		0.080 GeneticVariation disease BEFREE The alleles of the bft gene are distributed differently among enterotoxigenic Bacteroides fragilis strains from human sources and can be present in double copies. 10655354 2000
CUI: C1456246
Disease: Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site 		0.080 GeneticVariation disease BEFREE The presence of antibiotic resistance genes and bft genes as well as antibiotic susceptibility testing of Bacteroides fragilis strains isolated from inpatients of the Infant Jesus Teaching Hospital, Warsaw during 2007-2012. 30844502 2019
CUI: C1456246
Disease: Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site 		0.080 GeneticVariation disease BEFREE The purpose of this study was to establish a method of screening for the Bacteroides fragilis toxin (bft) gene in stool samples, as a means of determining if carriage of ETBF is detected more often in CRC patients than in age-matched healthy controls. 27166180 2016
CUI: C1456246
Disease: Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site 		0.080 GeneticVariation disease BEFREE Determination of bft gene subtypes in Bacteroides fragilis clinical isolates. 17301286 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.070 GeneticVariation disease BEFREE The PITX1 genetic variant showed significant interactions with regular exercise and CRC risk (p-interaction = 0.018) and colon cancer risk (p-interaction = 0.029) among all subjects. 29484135 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.070 GeneticVariation disease BEFREE The purpose of this study was to establish a method of screening for the Bacteroides fragilis toxin (bft) gene in stool samples, as a means of determining if carriage of ETBF is detected more often in CRC patients than in age-matched healthy controls. 27166180 2016
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.040 GeneticVariation disease BEFREE Nevertheless, no somatic mutation of PITX1 gene was found in 71 samples of gastric cancer by DHPLC analysis followed by sequencing. 18186570 2008
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.040 GeneticVariation disease BEFREE Nevertheless, no somatic mutation of PITX1 gene was found in 71 samples of gastric cancer by DHPLC analysis followed by sequencing. 18186570 2008
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.030 GeneticVariation phenotype BEFREE In this study, the bft gene subtyping from ETBF strains recovered from one immunodeficient and two immunocompetent children with diarrhea were determined. 17166747 2007
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.030 GeneticVariation phenotype BEFREE The presence of ETBF and bft gene subtypes were investigated in 200 stool samples from patients with diarrhea, diagnosed as gastroenteritis, which were sent to Clinical Microbiology Laboratory at Zonguldak Karaelmas University, Training and Research Hospital and in 200 stool samples from age-matched healthy subjects between April 14, 2009 and October 28, 2009. 20709181 2010