PRRX1, paired related homeobox 1, 5396

N. diseases: 134; N. variants: 11
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: C0376154
Disease: Skin callus
Skin callus
disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None 1.000 1 2018 2018
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group Anatomical Abnormality 37 3 0.010 None 1.000 1 2015 2015
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2013 2013
CUI: C0410719
Disease: Deformity of bone
Deformity of bone
group Musculoskeletal Diseases Anatomical Abnormality 17 2 0.010 None 1.000 1 2019 2019
CUI: C3494422
Disease: Retrognathia
Retrognathia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.310 None 1.000 1 2013 2013
CUI: C3494423
Disease: Maxillary Retroposition
Maxillary Retroposition
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 1 0.300 None 1.000 1 2013 2013
CUI: C3494424
Disease: Maxillary Retrusion
Maxillary Retrusion
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 1 0.300 None 1.000 1 2013 2013
CUI: C3494425
Disease: Mandibular Retroposition
Mandibular Retroposition
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 1 0.300 None 1.000 1 2013 2013
CUI: C3494426
Disease: Mandibular Retrusion
Mandibular Retrusion
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 1 0.300 None 1.000 1 2013 2013
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves
disease Anatomical Abnormality 17 2 0.100 None 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 56 29 0.100 None 0
CUI: C3894553
Disease: response to simvastatin
response to simvastatin
phenotype Cell Function 21 37 0.100 None 1.000 1 1 2018 2018
CUI: C0265242
Disease: Otocephaly
Otocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 2 0.620 None 1.000 3 2 2011 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2000 2013
CUI: C0035353
Disease: Congenital retrognathism
Congenital retrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 3 0.310 None 1.000 1 2013 2013
CUI: C0239399
Disease: Short extremities
Short extremities
phenotype Congenital Abnormality 38 10 0.010 None 1.000 1 2019 2019
CUI: C0685775
Disease: Congenital absence of jaw
Congenital absence of jaw
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 5 0.010 None 1.000 1 2013 2013
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 10 7 0.010 None 1.000 1 2019 2019
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 0
CUI: C0025988
Disease: Microglossia
Microglossia
disease Stomatognathic Diseases Congenital Abnormality 19 2 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C0026034
Disease: Microstomia
Microstomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 172 9 0.100 None 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 109 45 0.100 None 0
CUI: C0158663
Disease: Tongue absent
Tongue absent
disease Stomatognathic Diseases Congenital Abnormality 3 0.100 None 0