DNAI1, dynein axonemal intermediate chain 1, 27019

N. diseases: 89; 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.
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 0.900 None 1.000 9 9 1999 2014
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 0.600 strong 1.000 21 1 1999 2019
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 0.560 None 1.000 8 2001 2019
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 0.500 None 1.000 2 2010 2014
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.410 None 1.000 2 2008 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.300 limited 0
CUI: C0265747
Disease: Congenital atresia of nasopharynx
Congenital atresia of nasopharynx
disease Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 13 0.200 None 1.000 1 2014 2014
Other specified congenital malformations of respiratory system
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 13 0.200 None 1.000 1 2014 2014
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
disease Disease or Syndrome 39 5 0.200 None 0
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 30 17 0.200 None 0
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 29 0.200 None 0
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL
disease Disease or Syndrome 29 2 0.200 None 0
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 39 8 0.200 None 0
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
disease Disease or Syndrome 30 3 0.200 None 0
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
disease Disease or Syndrome 30 2 0.200 None 0
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.120 None 1.000 2 2018 2019
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.110 None 1.000 1 2019 2019
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 473 37 0.110 None 1.000 1 2004 2004
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 10 17 1999 2018
CUI: C0231835
Disease: Tachypnea
Tachypnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 82 5 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: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
disease Male Urogenital Diseases Disease or Syndrome 164 17 0.100 None 0
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media
disease Otorhinolaryngologic Diseases Disease or Syndrome 163 6 0.100 None 0
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: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0