RSPH1, radial spoke head component 1, 89765

N. diseases: 47; N. variants: 14
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 7 0.700 None 1.000 2 7 2013 2014
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 21 6 0.010 None 1.000 1 2014 2014
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2013 2013
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 41 3 0.100 None 0
CUI: C1855672
Disease: Immotile cilia
Immotile cilia
phenotype Finding 41 0.100 None 0
Impaired nasal mucociliary clearance
phenotype Finding 41 0.100 None 0
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 0.400 None 1.000 2 6 2013 2014
CUI: C0018520
Disease: Halitosis
Halitosis
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 48 0.100 None 0
CUI: C0032987
Disease: Ectopic Pregnancy
Ectopic Pregnancy
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 48 0.100 None 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 4 9 2013 2015
CUI: C0004144
Disease: Atelectasis
Atelectasis
phenotype Respiratory Tract Diseases Pathologic Function 62 2 0.100 None 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 67 3 0.340 None 1.000 4 2013 2014
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: C0231835
Disease: Tachypnea
Tachypnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 82 5 0.100 None 0
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers
disease Musculoskeletal Diseases Anatomical Abnormality 88 1 0.100 None 0
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive
group Respiratory Tract Diseases Disease or Syndrome 104 4 0.100 None 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 104 8 0.100 None 0
CUI: C0029883
Disease: Otitis Media with Effusion
Otitis Media with Effusion
disease Otorhinolaryngologic Diseases Disease or Syndrome 110 1 0.100 None 0
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.100 None 0
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic
disease Infections; Respiratory Tract Diseases Disease or Syndrome 118 9 0.100 None 0
CUI: C0021359
Disease: Infertility
Infertility
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 130 5 0.100 None 0
CUI: C0040580
Disease: Tracheal Diseases
Tracheal Diseases
group Respiratory Tract Diseases Disease or Syndrome 155 1 0.010 None 1.000 1 2007 2007
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 0.360 None 1.000 6 2013 2019
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2014 2014
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media
disease Otorhinolaryngologic Diseases Disease or Syndrome 163 6 0.100 None 0