RSPH1, radial spoke head 1 homolog, 89765

N. diseases: 20; N. variants: 10
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: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24
disease Disease or Syndrome 1 6 0.600 3 6 2013 2015
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 110 67 0.450 1.000 6 6 1993 2015
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 38 1 0.300 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 180 1 0.300 strong 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 63 190 0.140 1.000 7 4 2013 2017
CUI: C0030469
Disease: Paranasal Sinus Diseases
Paranasal Sinus Diseases
group Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 43 1 0.100 0
CUI: C2718128
Disease: Nasal inflammation
Nasal inflammation
phenotype Pathologic Function 10 0.100 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Finding 212 0.100 0
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis
disease Disease or Syndrome 32 0.100 0
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 111 2 0.100 0
CUI: C0037199
Disease: Sinusitis
Sinusitis
disease Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 60 0.100 0
CUI: C0021359
Disease: Infertility
Infertility
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 72 1 0.100 0
CUI: C4280333
Disease: Recurrent sinus disease
Recurrent sinus disease
disease Disease or Syndrome 32 0.100 0
CUI: C0035455
Disease: Rhinitis
Rhinitis
disease Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 99 7 0.100 0
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
disease Disease or Syndrome 26 6 0.010 1.000 1 2014 2014
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis
disease Disease or Syndrome 15 2 0.010 1.000 1 2014 2014
CUI: C0239134
Disease: Productive cough
Productive cough
phenotype Finding 1 0.010 1.000 1 2014 2014
Respiratory Distress Syndrome, Newborn
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 56 14 0.010 1.000 1 2014 2014
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 94 9 0.010 1.000 1 2015 2015