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: C1321313
Disease: Astrocytic hamartoma
Astrocytic hamartoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2012 2012
CUI: C1861316
Disease: Radially deviated wrists
Radially deviated wrists 		phenotype Finding 1 0.400 limited 0
CUI: C1861313
Disease: Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.620 None 1.000 3 2012 2014
CUI: C0740441
Disease: Acute diarrhea
Acute diarrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 0.010 None 1.000 1 2007 2007
CUI: C1865702
Disease: Joint contracture of the 5th finger
Joint contracture of the 5th finger 		disease Finding 4 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: C0265633
Disease: Congenital absence of tibia
Congenital absence of tibia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 0.010 None 1.000 1 2008 2008
CUI: C0432055
Disease: Simple syndactyly of fingers - first web
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: 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: C0264122
Disease: Atrophy, Disuse
Atrophy, Disuse 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2011 2011
CUI: C3489630
Disease: Somatotrophinoma, Familial
Somatotrophinoma, Familial 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 18 0.010 None 1.000 1 2019 2019
CUI: C1846534
Disease: ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 		disease Disease or Syndrome 20 2 0.010 None 1.000 1 2018 2018
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		phenotype Finding 23 0.100 None 0
CUI: C0267187
Disease: Intestinal metaplasia of gastric mucosa
Intestinal metaplasia of gastric mucosa 		disease Digestive System Diseases; Neoplasms Neoplastic Process 35 1 0.010 None 1.000 1 2005 2005
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 36 0.310 None 1.000 1 2012 2012
CUI: C0265797
Disease: Congenital emphysema
Congenital emphysema 		disease Respiratory Tract Diseases Congenital Abnormality 40 0.010 None 1.000 1 2019 2019
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: C1456246
Disease: Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
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: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype Finding 43 3 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: C0345354
Disease: Radial polydactyly
Radial polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 51 3 0.010 None 1.000 1 2012 2012
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 59 4 0.020 None 1.000 2 2008 2012
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		disease Nervous System Diseases Disease or Syndrome 59 63 0.010 None 1.000 1 2019 2019
CUI: C0409952
Disease: Idiopathic osteoarthritis
Idiopathic osteoarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 63 12 0.010 None 1.000 1 2013 2013