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: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.010 None < 0.001 1 2008 2008
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.010 None 1.000 1 2008 2008
CUI: C0264122
Disease: Atrophy, Disuse
Atrophy, Disuse 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2008 2008
CUI: C3887548
Disease: Central Apnea
Central Apnea 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 8 2 0.020 None 1.000 2 2008 2009
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 2009 2009
CUI: C3825235
Disease: Visceral reflex
Visceral reflex 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2009 2009
CUI: C0035204
Disease: Respiration Disorders
Respiration Disorders 		group Respiratory Tract Diseases Disease or Syndrome 208 6 0.010 None 1.000 1 2010 2010
CUI: C0677779
Disease: hereditary Wilms tumor
hereditary Wilms tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 5 0.010 None 1.000 1 2010 2010
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		group Respiratory Tract Diseases Disease or Syndrome 198 109 0.010 None 1.000 1 2010 2010
CUI: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.110 None 1.000 1 2010 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.330 None 1.000 4 2007 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.330 None 0.667 3 2004 2011
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.110 None 1.000 1 2011 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2008 2012
CUI: C1519787
Disease: Undifferentiated Neuroblastoma
Undifferentiated Neuroblastoma 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2012 2012
CUI: C0020875
Disease: Ileal Diseases
Ileal Diseases 		group Digestive System Diseases Disease or Syndrome 14 7 0.010 None 1.000 1 2012 2012
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.020 None 0.500 2 2008 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 2008 2013
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease Stomatognathic Diseases Congenital Abnormality 181 19 0.010 None 1.000 1 2013 2013
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.010 None 1.000 1 2013 2013
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 32 0.010 None 1.000 1 2013 2013
CUI: C1859049
Disease: CCHS WITH HIRSCHSPRUNG DISEASE
CCHS WITH HIRSCHSPRUNG DISEASE 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 7 1 0.640 None 1.000 6 1 2003 2014
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 122 17 0.120 None 1.000 2 2008 2014
CUI: C0003578
Disease: Apnea
Apnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.110 None 1.000 1 2014 2014
CUI: C3887547
Disease: Central sleep apnea syndrome
Central sleep apnea syndrome 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 11 0.010 None 1.000 1 2014 2014