Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Shortening of all distal phalanges of the fingers
40 0 1 5.4E-04 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology
40 0 1 5.4E-04 0 0
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
37 0 1 5.4E-04 0 0
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
36 0 1 5.4E-04 0 0
Leigh Syndrome due to Mitochondrial Complex III Deficiency
36 0 1 5.4E-04 0 0
Leigh Syndrome due to Mitochondrial Complex V Deficiency
36 0 1 5.4E-04 0 0
Necrotizing encephalopathy, infantile subacute, of Leigh
36 0 1 5.4E-04 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space
35 0 1 5.5E-04 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI
35 0 1 5.5E-04 0 0
Moderate sensorineural hearing impairment
34 0 1 5.5E-04 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 0 1 5.5E-04 0 0
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
32 0 1 5.5E-04 0 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe
32 0 1 5.5E-04 0 0
CUI: C0038663
Disease: Suicide attempt
Suicide attempt
31 0 1 5.5E-04 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea
31 0 1 5.5E-04 0 0
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia
30 0 1 5.5E-04 0 0
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow
28 0 1 5.5E-04 0 0
Auditory neuropathy spectrum disorder
28 0 1 5.5E-04 0 0
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy
27 0 1 5.5E-04 0 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet
26 0 1 5.5E-04 0 0
Autosomal dominant compelling helio ophthalmic outburst syndrome
26 0 1 5.5E-04 0 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax
26 0 1 5.5E-04 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc
26 0 1 5.5E-04 0 0
CUI: C0849748
Disease: caruncle
caruncle
25 0 1 5.5E-04 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue
25 0 1 5.5E-04 0 0