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: C1857977
Disease: MICROHYDRANENCEPHALY
MICROHYDRANENCEPHALY 		1 0 1 0.33 0 0
CUI: C3151461
Disease: LISSENCEPHALY 4
LISSENCEPHALY 4 		1 0 1 0.33 0 0
CUI: C4023757
Disease: Abnormal dura mater morphology
Abnormal dura mater morphology 		1 0 1 0.33 0 0
CUI: C4476560
Disease: Thalamic edema
Thalamic edema 		1 0 1 0.33 0 0
CUI: C4476589
Disease: Dysgenesis of the thalamus
Dysgenesis of the thalamus 		1 0 1 0.33 0 0
CUI: C4748484
Disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY 		1 4 1 0.33 1 0.25
CUI: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis 		2 0 1 0.25 0 0
CUI: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome 		2 0 1 0.25 0 0
CUI: C1837247
Disease: Antenatal intracerebral hemorrhage
Antenatal intracerebral hemorrhage 		2 0 1 0.25 0 0
CUI: C1851504
Disease: Aortic aneurysm, familial thoracic 4
Aortic aneurysm, familial thoracic 4 		2 0 1 0.25 0 0
CUI: C4023295
Disease: Cleft anterior mitral valve leaflet
Cleft anterior mitral valve leaflet 		2 2 1 0.25 1 0.50
CUI: C0344905
Disease: Left ventricular abnormality
Left ventricular abnormality 		3 0 1 0.20 0 0
CUI: C1846496
Disease: Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 		3 0 1 0.20 0 0
CUI: C1861217
Disease: Small foramen magnum
Small foramen magnum 		3 1 1 0.20 1 1.00
CUI: C3887851
Disease: Basilar invagination
Basilar invagination 		3 1 1 0.20 1 1.00
CUI: C3898473
Disease: Malignant biliary obstruction
Malignant biliary obstruction 		3 0 1 0.20 0 0
CUI: C4020755
Disease: Abnormality of fontanelles
Abnormality of fontanelles 		3 0 1 0.20 0 0
CUI: C4551964
Disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1 		3 0 1 0.20 0 0
CUI: C0424375
Disease: Biting self
Biting self 		4 3 1 0.17 1 0.33
CUI: C1848771
Disease: Prominent superficial blood vessels
Prominent superficial blood vessels 		4 1 1 0.17 1 1.00
CUI: C0031873
Disease: Pica Disease
Pica Disease 		5 3 1 0.14 1 0.33
CUI: C0151315
Disease: Neck stiffness
Neck stiffness 		5 0 1 0.14 0 0
CUI: C4023607
Disease: Abnormal corpus striatum morphology
Abnormal corpus striatum morphology 		5 0 1 0.14 0 0
CUI: C4073245
Disease: Abnormality of neck blood vessel
Abnormality of neck blood vessel 		5 2 1 0.14 1 0.50
CUI: C1832932
Disease: DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder) 		6 0 1 0.12 0 0