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: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		37 0 1 7.0E-04 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 1 7.0E-04 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 1 7.0E-04 0 0
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		35 0 1 7.0E-04 0 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 0 1 7.0E-04 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 1 7.0E-04 0 0
CUI: C4021538
Disease: Mild neurosensory hearing impairment
Mild neurosensory hearing impairment 		35 0 1 7.0E-04 0 0
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		34 0 1 7.0E-04 0 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		34 0 1 7.0E-04 0 0
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		33 0 1 7.0E-04 0 0
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		33 0 1 7.0E-04 0 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		32 0 1 7.0E-04 0 0
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		32 0 1 7.0E-04 0 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		32 0 1 7.0E-04 0 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		32 0 1 7.0E-04 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 1 7.0E-04 0 0
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		31 0 1 7.0E-04 0 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		31 0 1 7.0E-04 0 0
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		31 0 1 7.0E-04 0 0
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		31 0 1 7.0E-04 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		30 0 1 7.0E-04 0 0
CUI: C0011071
Disease: Sudden death
Sudden death 		30 0 1 7.0E-04 0 0
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy 		30 0 1 7.0E-04 0 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		30 0 1 7.0E-04 0 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		30 0 1 7.0E-04 0 0