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: C1840535
Disease: Abnormality of the carpal bones
Abnormality of the carpal bones 		0.100 Biomarker phenotype HPO
CUI: C4021742
Disease: Abnormality of the humerus
Abnormality of the humerus 		0.100 Biomarker disease HPO
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		0.100 Biomarker phenotype HPO
CUI: C0740441
Disease: Acute diarrhea
Acute diarrhea 		0.010 Biomarker disease BEFREE bft gene subtyping in enterotoxigenic Bacteroides fragilis isolated from children with acute diarrhea. 17166747 2007
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 AlteredExpression group BEFREE CDX2 and PITX1 messenger RNA (mRNA) expression levels, relative to the control gene beta-actin, were measured by reverse transcription-polymerase chain reaction in specimens of Barrett's IM (n = 21), dysplasia (n = 18), adenocarcinoma (n = 20), and matching normal squamous esophagus tissues (n = 39) collected from 19 patients with Barrett's esophagus and 20 patients with esophageal adenocarcinoma. 16291394 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 Biomarker group BEFREE Fascin expression and Ki67 proliferation index were also investigated by use of a tissue microarray containing cores from a further 158 colorectal adenocarcinomas and 15 adenomas linked to a CCF, IRB-approved database with a mean of 38 months of clinical follow-up. 17029629 2006
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 AlteredExpression disease BEFREE CDX2 and PITX1 messenger RNA (mRNA) expression levels, relative to the control gene beta-actin, were measured by reverse transcription-polymerase chain reaction in specimens of Barrett's IM (n = 21), dysplasia (n = 18), adenocarcinoma (n = 20), and matching normal squamous esophagus tissues (n = 39) collected from 19 patients with Barrett's esophagus and 20 patients with esophageal adenocarcinoma. 16291394 2005
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 AlteredExpression disease BEFREE PITX1 expression increased in male patients, advanced TNM stage, advanced T stage and advanced regional lymph node status of LUAD patients. 30322808 2018
CUI: C0001430
Disease: Adenoma
Adenoma 		0.020 Biomarker group BEFREE Ptx1 was detected in 10/14 (71.4%) of growth hormone (GH)-secreting adenomas, 12/12 (100%) of prolactin (PRL)-secreting adenomas, 18/20 (90%) of adrenocorticotropic hormone (ACTH)-secreting adenomas, 6/7 (85.7%) of thyroid-stimulating hormone (TSH)-secreting adenomas, and 17/20 (85%) of clinically non-functioning adenomas, including 9/10 (90%) of gonadotropin-subunit-positive adenomas. 11048804 2000
CUI: C0001430
Disease: Adenoma
Adenoma 		0.020 Biomarker group BEFREE Fascin expression and Ki67 proliferation index were also investigated by use of a tissue microarray containing cores from a further 158 colorectal adenocarcinomas and 15 adenomas linked to a CCF, IRB-approved database with a mean of 38 months of clinical follow-up. 17029629 2006
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.010 PosttranslationalModification disease BEFREE Abnormal PITX1 gene methylation in adolescent idiopathic scoliosis: a pilot study. 29743058 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 AlteredExpression disease BEFREE Herein, circ-PITX1 was found to be upregulated in glioblastoma and could mediate glioblastoma tissues and cell lines. 31493405 2019
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.020 Biomarker disease BEFREE A drastic and significant change has been noted particularly in the expression levels of Homeobox genes (HOXB8, HOXB7, HOXA13, HOXA10), ZIC2, FAM101A, COMP and PITX1 in AIS compared to controls. 23467837 2013
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.020 AlteredExpression disease BEFREE The PITX1 gene expression was 0.15 ± 0.08 in AIS and 0.80 ± 0.55 in healthy controls (P < 0.0001). 29743058 2018
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.010 Biomarker disease BEFREE Each BAV was classified using both dichotomous (right and left coronary cusp fusion [CCF] vs mixed cusp fusion [MCF]) and conventional methods, and its association with the dominant valvulopathy (aortic stenosis [AS] vs regurgitation) and concomitant aortic surgery was analyzed. 29066082 2017
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		0.100 Biomarker phenotype HPO
CUI: C1846534
Disease: ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 		0.010 Biomarker disease 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: C1321313
Disease: Astrocytic hamartoma
Astrocytic hamartoma 		0.010 GeneticVariation disease BEFREE In the CCF-TSCP group, the average number of AH was 4 (range, 2-7). 22608477 2012
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.060 Biomarker disease BEFREE We examined whether the sarin-like OP agent bis(isopropyl methyl)phosphonate (BIMP), which exhibits toxicity similar to that of sarin, induced ER stress in human astrocytoma CCF-STTG1 cells. 27665771 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.060 Biomarker disease BEFREE Conversely, VPA had no effect on cell proliferation of human CCF astrocytoma cells but stimulated nerve growth factor (NGF)-induced neurite outgrowth from rat PC12 pheochromocytoma cells. 19766605 2009
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.060 Biomarker disease BEFREE In comparison with SY5Y neuroblastoma cells, paraoxon and DFP (3 microM for 24 h) each significantly increased GRP78 levels by 23-24% in CCF astrocytoma cells. 17223147 2007
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.060 AlteredExpression disease BEFREE Herein we showed that activation of CD47 in human astrocytoma cell lines U87 and CCF- STTG1 (Grade IV), up-regulated the expression of UHRF1 with subsequent down-regulation of p16(INK4A), thus promoting cell proliferation. 25550546 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.060 Biomarker disease BEFREE In this study, we investigated the effect of CD3/CD28-activated peripheral blood mononuclear cells (PBMCs) on two human astrocytoma cell lines (1321N1 and CCF-STTG1), with respect to the expression of cytokines and chemokines. 21749456 2011
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.060 Biomarker disease BEFREE We attempted to isolate and identify a stress protein that is upregulated in response to hypoxia in human astrocytoma CCF-STTG1 cells. 15379897 2004
CUI: C0264122
Disease: Atrophy, Disuse
Atrophy, Disuse 		0.010 GeneticVariation disease BEFREE Skeletal muscle gene expression was significantly reduced in Pitx1(-/-) E12.5 hindlimb buds compared with the wild-type, suggesting that muscle hypoplasia was due to abnormal early muscle development and not disuse atrophy. 21775501 2011