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.
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1840535
Disease: Abnormality of the carpal bones
Abnormality of the carpal bones
phenotype Musculoskeletal Diseases Finding 6 0.100 None 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype Finding 43 3 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 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: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones
phenotype Finding 23 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease Acquired Abnormality 73 14 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
Simple syndactyly of fingers - first web
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 9 0.100 None 0
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: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.010 None 1.000 1 2003 2003
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.010 None 1.000 1 2003 2003
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.010 None 1.000 1 2005 2005
Intestinal metaplasia of gastric mucosa
disease Digestive System Diseases; Neoplasms Neoplastic Process 35 1 0.010 None 1.000 1 2005 2005
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.030 None 1.000 3 2001 2006
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.030 None 1.000 3 2001 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.020 None 1.000 2 2005 2006
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.020 None 1.000 2 2000 2006
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor
phenotype Neoplasms Neoplastic Process 267 3 0.010 None 1.000 1 2006 2006
CUI: C0334299
Disease: Carcinoid tumor no ICD-O subtype
Carcinoid tumor no ICD-O subtype
phenotype Neoplasms Neoplastic Process 122 0.010 None 1.000 1 2006 2006