PHOX2A, paired like homeobox 2A, 401

N. diseases: 30; N. variants: 2
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.
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.730 strong 0.800 5 1 2001 2012
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.200 None 1.000 1 2001 2001
Congenital Fibrosis of the Extraocular Muscles
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 13 4 0.190 None 1.000 9 2001 2016
CUI: C0015310
Disease: Exotropia
Exotropia
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 78 23 0.120 None 1.000 2 2002 2003
CUI: C0020575
Disease: Hypertropia
Hypertropia
phenotype Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.100 None 0
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis
phenotype Eye Diseases Finding 50 14 0.100 None 0
Restrictive external ophthalmoplegia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 3 2 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 85 29 0.100 None 0
CUI: C0152208
Disease: Hypotropia
Hypotropia
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.100 None 0
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.030 None 1.000 3 2008 2016
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.030 None 1.000 3 2008 2016
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.030 None 1.000 3 2008 2016
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 1998 2001
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.020 None 1.000 2 2004 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2008 2009
CUI: C0033377
Disease: Ptosis
Ptosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.010 None 1.000 1 2002 2002
CUI: C4048328
Disease: cervical cancer
cervical cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1817 268 0.010 None 1.000 1 2017 2017
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.010 None 1.000 1 2002 2002
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 9 0.010 None 1.000 1 2002 2002
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1718 245 0.010 None 1.000 1 2017 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 2002 2002
CUI: C0016059
Disease: Fibrosis
Fibrosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 184 0.010 None 1.000 1 2003 2003
Fibrosis Of Extraocular Muscles, Congenital, 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 7 0.010 None 1.000 1 1998 1998
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 1 2007 2007