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: C2674512
Disease: Truncal titubation
Truncal titubation 		5 2 1 4.2E-02 1 0.25
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		52 3 1 1.4E-02 1 0.20
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		15 3 2 6.1E-02 1 0.20
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		28 4 3 6.7E-02 1 0.17
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		2 7 1 4.8E-02 1 0.11
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 9 1 9.6E-03 1 9.1E-02
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 9 2 3.7E-02 1 9.1E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		208 9 3 1.3E-02 1 9.1E-02
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		19 13 1 2.6E-02 1 6.7E-02
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 14 6 3.8E-02 1 6.2E-02
CUI: C3554079
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 		1 14 1 5.0E-02 1 6.2E-02
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		11 15 1 3.3E-02 1 5.9E-02
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 17 4 2.8E-02 1 5.3E-02
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		57 24 1 1.3E-02 1 3.8E-02
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		17 25 1 2.8E-02 1 3.7E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 2 1.1E-02 1 3.7E-02
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 4 1.7E-02 1 3.1E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 9 2.9E-02 1 2.9E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 5 1.3E-02 1 2.8E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 2.0E-02 1 2.6E-02
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		86 46 1 9.5E-03 1 2.1E-02
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		4 46 1 4.3E-02 1 2.1E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 3 6.0E-03 1 1.8E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 1 7.3E-03 1 1.6E-02
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		1 65 1 5.0E-02 1 1.5E-02