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: C3281059
Disease: Broad jaw
Broad jaw 		6 0 1 0.17 0 0
CUI: C0346037
Disease: Acral Lentiginous Malignant Melanoma
Acral Lentiginous Malignant Melanoma 		16 0 1 6.2E-02 0 0
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		17 0 1 5.9E-02 0 0
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		32 0 1 3.1E-02 0 0
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		46 0 1 2.2E-02 0 0
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		48 0 1 2.1E-02 0 0
CUI: C0699753
Disease: Cancer Relapse
Cancer Relapse 		48 0 1 2.1E-02 0 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		67 0 1 1.5E-02 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 0 1 1.1E-02 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 0 1 9.1E-03 0 0
CUI: C0024421
Disease: Macroglossia
Macroglossia 		115 0 1 8.7E-03 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 1 8.1E-03 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 1 6.8E-03 0 0
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		154 0 1 6.5E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 4.4E-03 0 0
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		234 0 1 4.3E-03 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 1 4.3E-03 0 0
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		240 0 1 4.2E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 1 3.7E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 3.2E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.6E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.4E-03 0 0
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		413 0 1 2.4E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.3E-03 0 0
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue 		462 0 1 2.2E-03 0 0