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: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 Biomarker phenotype BEFREE Loss of desmocollin 1-3 and homeobox genes PITX1 and CDX2 are associated with tumor progression and survival in colorectal carcinoma. 22438068 2012
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 AlteredExpression phenotype 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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 Biomarker phenotype BEFREE Rescue assays were applied for characterizing the effects of miR-675/PITX1 axis on GC growth and invasion. 31260797 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 AlteredExpression phenotype BEFREE Among the nine cell lines, IN157, IN500 and U343 showed less than 10% invasion activity (low group); NHGI, IN301 and CCF-STTG1 showed 10-25% activity (intermediate group); NHG2, U251 and T98G showed more than 30% activity (high group). 8039304 1994
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 AlteredExpression phenotype BEFREE More importantly, PITX1 expression was significantly associated with the differentiation, position and invasion depth of gastric cancers (r = -0.316, P < 0.01; r = 0.213, P < 0.05; r = -0.259, P < 0.05, respectively). 18186570 2008
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 Biomarker phenotype BEFREE Gain and loss-of-function assays demonstrated that circ-PITX1 could facilitate the growth, migration, and invasion and inhibit cell apoptosis in GM cell lines. 31069865 2019
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 GeneticVariation disease BEFREE Astrocytic hamartomas were bilateral in 43.3% and 18.1% (P=0.009) and multiple in 40.0% and 15.3% (P = 0.008) in the CCF-TSCP and TSC-A groups, respectively. 22608477 2012
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: 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
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: 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 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: 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 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: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		0.100 Biomarker phenotype HPO
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.010 AlteredExpression group LHGDN Expression of pituitary homeobox 1 gene in human gastric carcinogenesis and its clinicopathological significance. 18186570 2008
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.040 Biomarker disease BEFREE Rescue assays were applied for characterizing the effects of miR-675/PITX1 axis on GC growth and invasion. 31260797 2019
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: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.040 AlteredExpression disease BEFREE The Cancer Genome Atlas database was used to analyze the expression of PITX1 with GC prognosis in the Asian population and to assess the potential mechanism of PITX1 in 5-FU and CDDP resistance. 31007741 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.040 Biomarker disease BEFREE The effect of PITX1 on the GC cell proliferation and tumorigenesis was analyzed in vitro and in vivo. 29734189 2018
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 Biomarker disease BEFREE A PITX1-transfected ESCC cell line, KYSE30, formed smaller tumors in nude mice than in mock-transfected cells. 29137437 2017