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: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		130 1012 1 5.7E-03 3 2.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 16 8.6E-03 1 1.8E-03
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		59 442 1 9.6E-03 3 6.7E-03
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		1719 297 6 3.4E-03 1 3.3E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 16 1.4E-02 1 3.3E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 5 2.5E-02 1 3.9E-03
CUI: C0030193
Disease: Pain
Pain 		1554 196 11 6.9E-03 1 4.9E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 2 3.7E-03 1 5.6E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 9 1.3E-02 1 5.7E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 19 2.2E-02 2 1.4E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 8 1.7E-02 1 7.7E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 4 1.3E-02 1 8.6E-03
CUI: C0018681
Disease: Headache
Headache 		338 75 2 5.2E-03 1 1.2E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 3 5.6E-03 2 2.5E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 15 1.7E-02 1 1.3E-02
CUI: C0015672
Disease: Fatigue
Fatigue 		760 67 6 7.5E-03 2 2.6E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 8 2.1E-02 1 1.5E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 10 1.9E-02 1 1.6E-02
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		10 49 1 1.8E-02 1 1.7E-02
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		2 47 1 2.1E-02 1 1.8E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 3 4.1E-02 4 7.5E-02
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		75 37 5 4.3E-02 1 2.1E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		64 34 2 1.9E-02 1 2.3E-02
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 32 8 3.2E-02 1 2.4E-02
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		18 32 1 1.6E-02 1 2.4E-02