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
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
0.620 Biomarker disease CTD_human
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
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: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE One cell line (CCF-RC1) was obtained from the primary tumor and the second (CCF-RC2) was established from cells of the renal vein effluent of the perfused tumorous kidney. 2582448 1989
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: C0017638
Disease: Glioma
Glioma
0.020 Biomarker disease BEFREE Nine human glioma cell lines (NHG1, NHG2, IN157, IN301, IN500, U251, U343, T98G and CCF-STTG1) derived from patients with glioma were grown in culture and used. 8039304 1994
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
0.010 AlteredExpression disease BEFREE Taken together with the craniofacial expression pattern of Ptx1 during early development, the localization of the gene in this chromosomal area is consistent with an involvement in Treacher Collins Franceschetti Syndrome. 9337397 1997
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