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: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 29 15 1.000 strong 0.958 118 5 2002 2020
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.800 None 0.897 58 2 2004 2020
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: C2751683
Disease: Hirschsprung disease ganglioneuroblastoma
Hirschsprung disease ganglioneuroblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 1 1 0.600 strong 1.000 1 1 2017 2017
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: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 140 68 0.350 strong 0.800 5 2004 2020
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: 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: 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: C0949272
Disease: IIeocolitis
IIeocolitis 		disease Digestive System Diseases Disease or Syndrome 53 3 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: C0678202
Disease: Regional enteritis
Regional enteritis 		disease Digestive System Diseases Disease or Syndrome 46 15 0.300 None 1.000 1 2007 2007
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.300 limited 0
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.200 None 0.939 33 2 2002 2019
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: C0013363
Disease: Dysautonomia
Dysautonomia 		disease Nervous System Diseases Disease or Syndrome 148 18 0.180 None 1.000 8 1 2005 2018
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: 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: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma 		disease Neoplasms Neoplastic Process 57 0.110 None 1.000 1 2005 2005
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: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.110 None 1.000 1 2010 2010
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: C0017075
Disease: Ganglioneuroma
Ganglioneuroma 		disease Neoplasms Neoplastic Process 88 2 0.110 None 1.000 1 2018 2018
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.100 None 0.925 53 2 2004 2020