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: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3
3 7 2 0.67 1 0.14
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia
5 28 2 0.40 1 3.6E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
19 18 2 0.11 1 5.6E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
39 59 2 5.1E-02 1 1.7E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
89 118 2 2.2E-02 1 8.5E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
160 246 2 1.3E-02 1 4.1E-03
CUI: C0349588
Disease: Short stature
Short stature
190 292 2 1.1E-02 1 3.4E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance
211 411 2 9.5E-03 1 2.4E-03
CUI: C0036572
Disease: Seizures
Seizures
237 417 2 8.4E-03 1 2.4E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
336 579 2 6.0E-03 1 1.7E-03