PITX1, paired like homeodomain 1, 5307

N. diseases: 109; N. variants: 5
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 43 0.080 None 1.000 8 2000 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 1994 2019
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2017 2017
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer
disease Neoplastic Process 145 9 0.010 None 1.000 1 2017 2017
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
phenotype Disease or Syndrome 266 24 0.010 None 1.000 1 2008 2008
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.010 None 1.000 1 2018 2018
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
disease Disease or Syndrome 20 2 0.010 None 1.000 1 2018 2018
CUI: C2004489
Disease: Regurgitation
Regurgitation
phenotype Sign or Symptom 66 0.010 None 1.000 1 2017 2017
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.010 None 1.000 1 2017 2017
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2017 2017
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease Acquired Abnormality 73 14 0.100 None 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones
phenotype Finding 23 0.100 None 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype Finding 43 3 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1861316
Disease: Radially deviated wrists
Radially deviated wrists
phenotype Finding 1 0.400 limited 0
CUI: C1865702
Disease: Joint contracture of the 5th finger
Joint contracture of the 5th finger
disease Finding 4 0.100 None 0
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype Finding 45 0.100 None 0
CUI: C4021742
Disease: Abnormality of the humerus
Abnormality of the humerus
disease Anatomical Abnormality 10 2 0.100 None 0
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna
phenotype Anatomical Abnormality 14 0.100 None 0
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 234 19 0.010 None 1.000 1 2017 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2019 2019
CUI: C0018824
Disease: Heart valve disease
Heart valve disease
group Cardiovascular Diseases Disease or Syndrome 79 5 0.010 None 1.000 1 2017 2017
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 154 23 0.010 None 1.000 1 2017 2017
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 42 30 0.010 None 1.000 1 1997 1997
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.020 None 1.000 2 2013 2018