ISL1, ISL LIM homeobox 1, 3670

N. diseases: 94; N. variants: 2
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: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2012 2012
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 225 21 0.100 None 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 16 1 0.100 None 0
CUI: C4025893
Disease: Abnormality of the clitoris
Abnormality of the clitoris 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 267 80 0.060 None 1.000 6 1 2010 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.030 None 1.000 3 2003 2014
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.030 None 1.000 3 1 2013 2019
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 48 16 0.020 None 1.000 2 2011 2019
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 2019 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2014 2014
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 76 4 0.010 None 1.000 1 2011 2011
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 19 5 0.010 None 1.000 1 2011 2011
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 24 5 0.010 None 1.000 1 2012 2012
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		disease Congenital Abnormality 51 45 0.010 None 1.000 1 2011 2011
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.010 None 1.000 1 2013 2013
CUI: C0014588
Disease: Epispadias
Epispadias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 30 0.100 None 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 77 5 0.100 None 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 0
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 85 13 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.070 None 1.000 7 1994 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.060 None 0.667 6 1 2010 2019
CUI: C0005689
Disease: Bladder Exstrophy
Bladder Exstrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 18 7 0.430 None 1.000 3 2015 2018
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.020 None 0.500 2 1999 2002
CUI: C0856742
Disease: Post MI
Post MI 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 203 4 0.020 None 1.000 2 2017 2018