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: C0276161
Disease: Subacute adenoviral encephalitis
Subacute adenoviral encephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
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: C0266677
Disease: Synotus
Synotus 		disease Congenital Abnormality 2 0.100 None 0
CUI: C1876185
Disease: Dysgnathia complex
Dysgnathia complex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 3 0.500 None 1.000 2 2011 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: C0158663
Disease: Tongue absent
Tongue absent 		disease Stomatognathic Diseases Congenital Abnormality 3 0.100 None 0
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: C4020963
Disease: Absent nares
Absent nares 		phenotype Finding 4 0.100 None 0
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: C1396772
Disease: Hypoplasia of the epiglottis
Hypoplasia of the epiglottis 		disease Congenital Abnormality 5 0.100 None 0
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 6 23 0.010 None 1.000 1 2000 2000
CUI: C0431527
Disease: Laryngeal hypoplasia
Laryngeal hypoplasia 		disease Congenital Abnormality 7 2 0.100 None 0
CUI: C4024159
Disease: Aplasia/Hypoplasia involving the nose
Aplasia/Hypoplasia involving the nose 		phenotype Finding 8 0.100 None 0
CUI: C0011304
Disease: Demyelination
Demyelination 		phenotype Nervous System Diseases Pathologic Function 9 0.300 None 1.000 1 2018 2018
CUI: C2350037
Disease: Clinically Isolated Syndrome, CNS Demyelinating
Clinically Isolated Syndrome, CNS Demyelinating 		disease Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2018 2018
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: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		disease Congenital Abnormality 14 0.100 None 0
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal 		phenotype Finding 14 0.100 None 0
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: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		disease Anatomical Abnormality 17 2 0.100 None 0
CUI: C0025988
Disease: Microglossia
Microglossia 		disease Stomatognathic Diseases Congenital Abnormality 19 2 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