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 HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 Biomarker disease CTD_human
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 CausalMutation disease CLINVAR
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: 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: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker disease HPO
CUI: C0432055
Disease: Simple syndactyly of fingers - first web
Simple syndactyly of fingers - first web 		0.100 Biomarker disease HPO
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		0.100 Biomarker phenotype HPO
CUI: C1840535
Disease: Abnormality of the carpal bones
Abnormality of the carpal bones 		0.100 Biomarker phenotype HPO
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		0.100 Biomarker phenotype HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 Biomarker disease HPO
CUI: C1865702
Disease: Joint contracture of the 5th finger
Joint contracture of the 5th finger 		0.100 Biomarker disease HPO
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		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: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 Biomarker disease BEFREE <b>Abbreviations:</b> ART: anti-retroviral therapy; Child PIP: Child Healthcare Problem Identification Programme; CCF: congestive cardiac failure; CNS: central nervous system; CoNS: coagulase-negative <i>staphylococci</i>; CSF: cerebrospinal fluid; DNA pcr: deoxyribonucleic acid polymerase chain reaction; ETAT: emergency triage assessment and treatment; LMIC: low- and middle-income countries; MDG: Millennium Development Goals; MRI: magnetic resonance imaging; MRSA: methicillin-resistant <i>Staphylococcus aureus</i>; NAI: non-accidental injury; NTS: non-typhi salmonella; PJP: <i>Pneumocystis jiroveci</i> pneumonia; PSHD: presumed severe HIV disease; QECH: Queen Elizabeth Central Hospital; RHD: rheumatic heart disease; RTA: road traffic accident; TB: tuberculosis; TBM: tuberculous meningitis; WHO: World Health Organization; SAM: severe acute malnutrition. 30451103 2019
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 Biomarker disease MGD 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 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: 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: 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 Biomarker disease BEFREE bft gene subtyping in enterotoxigenic Bacteroides fragilis isolated from children with acute diarrhea. 17166747 2007