DNAH11, dynein axonemal heavy chain 11, 8701

N. diseases: 110; N. variants: 109
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: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 71 4 0.200 None 1.000 1 2010 2010
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		phenotype Diagnostic Procedure 88 252 0.100 None 1.000 1 1 2010 2010
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 9 4 2009 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 7 5 2009 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.410 None 1.000 3 1 2009 2019
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 3 1 2009 2013
CUI: C0598784
Disease: Dyslipoproteinemias
Dyslipoproteinemias 		phenotype Nutritional and Metabolic Diseases Pathologic Function 24 0.300 None 1.000 1 2009 2009
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.300 None 1.000 1 2009 2009
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 8 53 2008 2016
CUI: C0043094
Disease: Weight Gain
Weight Gain 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.400 None 1.000 1 2 2008 2008
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 0.400 strong 1.000 12 2002 2018
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 0.260 None 1.000 6 2002 2018
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 138 6 0.020 None 1.000 2 2002 2012
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 104 8 0.110 None 1.000 1 2002 2002
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 2 14 0.900 None 1.000 5 14 1999 2014
CUI: C0478019
Disease: Other specified congenital malformations of respiratory system
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 1999 1999
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 1999 1999
CUI: C4552030
Disease: Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.700 None 1.000 1 1999 1999
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: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		disease Anatomical Abnormality 9 5 0.100 None 0 2
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		disease Finding 24 5 0.100 None 0 2
CUI: C4025885
Disease: Abnormality of the uvula
Abnormality of the uvula 		phenotype Anatomical Abnormality 2 2 0.100 None 0 2
CUI: C1855672
Disease: Immotile cilia
Immotile cilia 		phenotype Finding 41 0.100 None 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype Finding 24 28 0.100 None 0 2
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 limited 0