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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		512 509 5 8.8E-03 1 2.0E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 11 3.7E-02 1 2.8E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 42 3.7E-02 1 3.4E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 9 2.2E-02 1 4.0E-03
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 187 15 0.12 1 5.3E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 30 3.1E-02 1 6.0E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 8 3.7E-02 1 8.0E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 11 3.5E-02 1 9.2E-03
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		30 96 1 1.1E-02 2 2.0E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 24 5.2E-02 1 1.1E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 20 3.5E-02 1 1.1E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 84 1 2.9E-03 1 1.1E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 14 2.7E-02 1 1.5E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 56 14 2.5E-02 1 1.7E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 3 3.1E-02 2 3.4E-02
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		11 54 2 3.0E-02 1 1.8E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 22 9.6E-02 2 3.8E-02
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 13 3.9E-02 2 4.3E-02
CUI: C0027960
Disease: Nevus
Nevus 		125 43 7 4.0E-02 1 2.2E-02
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 42 4 8.4E-03 1 2.2E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 14 9.3E-02 2 4.8E-02
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		74 32 7 5.6E-02 1 2.9E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 8 1.7E-02 2 5.9E-02
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		267 31 4 1.2E-02 1 2.9E-02
CUI: C0575802
Disease: Small hand
Small hand 		108 31 4 2.5E-02 1 2.9E-02