Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 21 3 1.6E-02 3 0.14
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 13 3.9E-02 2 4.3E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 22 9.6E-02 2 3.8E-02
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		30 96 1 1.1E-02 2 2.0E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 28 0.12 2 0.11
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		8 23 1 1.5E-02 2 8.0E-02
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 14 2 1.7E-02 2 0.12
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 3 3.1E-02 2 3.4E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 19 22 0.17 2 9.5E-02
CUI: C1836047
Disease: Long face
Long face 		182 12 6 2.6E-02 2 0.14
CUI: C1844573
Disease: Large earlobe
Large earlobe 		18 2 3 4.1E-02 2 0.50
CUI: C1844731
Disease: Hypoplastic nasal tip
Hypoplastic nasal tip 		2 2 2 3.4E-02 2 0.50
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 5 6.7E-02 2 6.9E-02
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle 		5 2 1 1.6E-02 2 0.50
CUI: C1854114
Disease: Short nose
Short nose 		265 23 17 5.6E-02 2 8.0E-02
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		5 6 1 1.6E-02 2 0.25
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 14 9.3E-02 2 4.8E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 8 1.7E-02 2 5.9E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 11 3.7E-02 1 2.8E-03
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		267 31 4 1.2E-02 1 2.9E-02
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		512 509 5 8.8E-03 1 2.0E-03
CUI: C0008733
Disease: Chylothorax
Chylothorax 		23 2 1 1.3E-02 1 0.20
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 56 14 2.5E-02 1 1.7E-02
CUI: C0018808
Disease: Heart murmur
Heart murmur 		31 10 2 2.3E-02 1 7.7E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 24 5.2E-02 1 1.1E-02