PHOX2B, paired like homeobox 2B, 8929

N. diseases: 128; 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: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation 		phenotype Finding 12 8 0.100 None 0
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.100 None 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		phenotype Finding 19 3 0.100 None 0
CUI: C4703499
Disease: Constant exotropia
Constant exotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2004 2004
CUI: C0026961
Disease: Mydriasis
Mydriasis 		phenotype Eye Diseases Sign or Symptom 25 2 0.010 None 1.000 1 2004 2004
CUI: C4086158
Disease: Childhood Ganglioneuroblastoma
Childhood Ganglioneuroblastoma 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2005 2005
CUI: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma 		disease Neoplasms Neoplastic Process 57 0.110 None 1.000 1 2005 2005
CUI: C2751682
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2
NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 		disease Finding 1 1 0.400 strong 1.000 2 1 2004 2006
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 10 93 0.010 None 1.000 1 2006 2006
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 41 1 0.010 None 1.000 1 2006 2006
CUI: C0267380
Disease: Crohn's disease of the ileum
Crohn's disease of the ileum 		disease Digestive System Diseases Disease or Syndrome 55 0.300 None 1.000 1 2007 2007
CUI: C0156147
Disease: Crohn's disease of large bowel
Crohn's disease of large bowel 		disease Digestive System Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2007 2007
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 36 11 0.010 None 1.000 1 2007 2007
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		disease Digestive System Diseases Disease or Syndrome 46 15 0.300 None 1.000 1 2007 2007
CUI: C0949272
Disease: IIeocolitis
IIeocolitis 		disease Digestive System Diseases Disease or Syndrome 53 3 0.300 None 1.000 1 2007 2007
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Pathologic Function 28 2 0.190 None 1.000 9 2005 2008
CUI: C0020681
Disease: Sleep-related respiratory failure
Sleep-related respiratory failure 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 3 0.060 None 1.000 6 2002 2008
CUI: C1145628
Disease: Autonomic nervous system disorders
Autonomic nervous system disorders 		group Nervous System Diseases Disease or Syndrome 73 7 0.050 None 1.000 5 1 2005 2008
CUI: C0745186
Disease: hypoventilation syndrome
hypoventilation syndrome 		disease Disease or Syndrome 1 0.040 None 1.000 4 2005 2008
CUI: C2931189
Disease: Neural crest tumor
Neural crest tumor 		disease Neoplasms; Endocrine System Diseases Disease or Syndrome 18 1 0.310 None 1.000 2 2004 2008
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 33 49 0.010 None 1.000 1 2008 2008