RSPH4A, radial spoke head component 4A, 345895

N. diseases: 57; N. variants: 20
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: 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: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.400 None 1.000 1 2015 2015
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 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 110 1 0.400 None 1.000 1 2015 2015
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.400 None 1.000 1 2015 2015
CUI: C0035455
Disease: Rhinitis
Rhinitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 178 20 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 1261 77 0.400 None 1.000 1 2015 2015
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 190 15 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 160 10 0.330 strong 1.000 3 2009 2013
CUI: C1260880
Disease: Rhinorrhea
Rhinorrhea
phenotype Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom 19 0.300 None 1.000 1 2015 2015
CUI: C4552662
Disease: Rhinorrhea, CTCAE
Rhinorrhea, CTCAE
phenotype Finding 6 0.300 None 1.000 1 2015 2015
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.300 None 1.000 1 2015 2015
CUI: C0037199
Disease: Sinusitis
Sinusitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 97 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 7 0.300 None 1.000 1 2015 2015
CUI: C2024891
Disease: Reduced exercise tolerance
Reduced exercise tolerance
phenotype Finding 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: C0231918
Disease: Nose symptoms
Nose symptoms
phenotype Sign or Symptom 19 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 62 37 0.300 None 1.000 1 2015 2015
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.300 limited 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 59 402 0.100 None 1.000 5 15 2009 2015
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 43 67 0.100 None 1.000 2 2 2013 2015
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 80 6 0.100 None 0
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 41 3 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0