RSPH4A, radial spoke head component 4A, 345895

N. diseases: 19; N. variants: 20
Source: CURATED ×
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: C2675229
Disease: CILIARY DYSKINESIA, PRIMARY, 11
CILIARY DYSKINESIA, PRIMARY, 11 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 8 0.700 None 1.000 3 8 2009 2014
CUI: C0035455
Disease: Rhinitis
Rhinitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 2 0.400 None 1.000 1 2015 2015
CUI: C0029883
Disease: Otitis Media with Effusion
Otitis Media with Effusion 		disease Otorhinolaryngologic Diseases Disease or Syndrome 1 0.400 None 1.000 1 2015 2015
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 22 8 0.400 None 1.000 1 2015 2015
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 10 0.400 None 1.000 1 2015 2015
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 3 7 0.400 None 1.000 1 2015 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 25 13 0.400 None 1.000 1 2015 2015
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 10 292 0.400 None 1.000 1 2015 2015
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 47 0.330 strong 1.000 0 2009 2013
CUI: C2024891
Disease: Reduced exercise tolerance
Reduced exercise tolerance 		phenotype Finding 1 0.300 None 1.000 1 2015 2015
CUI: C1260880
Disease: Rhinorrhea
Rhinorrhea 		phenotype Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom 1 0.300 None 1.000 1 2015 2015
CUI: C0231918
Disease: Nose symptoms
Nose symptoms 		phenotype Sign or Symptom 1 0.300 None 1.000 1 2015 2015
CUI: C0041667
Disease: Underweight
Underweight 		phenotype Pathological Conditions, Signs and Symptoms Finding 1 0.300 None 1.000 1 2015 2015
CUI: C0037199
Disease: Sinusitis
Sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 0.300 None 1.000 1 2015 2015
CUI: C0029882
Disease: Otitis Media
Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 2 4 0.300 None 1.000 1 2015 2015
CUI: C0027429
Disease: Nasal obstruction present finding
Nasal obstruction present finding 		phenotype Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 2 0.300 None 1.000 1 2015 2015
CUI: C0011053
Disease: Deafness
Deafness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 25 37 0.300 None 1.000 1 2015 2015
CUI: C4552662
Disease: Rhinorrhea, CTCAE
Rhinorrhea, CTCAE 		phenotype Finding 1 0.300 None 1.000 1 2015 2015
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 78 0.300 limited 0