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: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 1 2.3E-03 0 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness
70 0 1 2.3E-03 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly
67 0 1 2.3E-03 0 0
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result
65 0 1 2.3E-03 0 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress
64 0 1 2.3E-03 0 0
CUI: C0234378
Disease: Static Tremor
Static Tremor
62 0 1 2.3E-03 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
62 0 1 2.3E-03 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes
61 0 1 2.3E-03 0 0
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL
61 0 1 2.3E-03 0 0
CUI: C0009024
Disease: Clonus
Clonus
60 0 1 2.3E-03 0 0
CUI: C0018564
Disease: Hand deformities
Hand deformities
60 0 1 2.3E-03 0 0
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired
60 0 1 2.3E-03 0 0
Fatigable weakness of respiratory muscles
60 0 1 2.3E-03 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
59 0 1 2.3E-03 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve
59 0 1 2.3E-03 0 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay
58 0 1 2.3E-03 0 0
CUI: C0234379
Disease: Resting Tremor
Resting Tremor
57 0 1 2.3E-03 0 0
CUI: C0424166
Disease: Social Anxiety
Social Anxiety
57 0 1 2.3E-03 0 0
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval
57 0 1 2.3E-03 0 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum
57 0 1 2.3E-03 0 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
57 0 1 2.3E-03 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy
56 0 1 2.3E-03 0 0
CUI: C1837352
Disease: Childhood onset
Childhood onset
56 0 1 2.3E-03 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
56 0 1 2.3E-03 0 0
CUI: C0040485
Disease: Torticollis
Torticollis
55 0 1 2.4E-03 0 0