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: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		36 6 19 0.16 1 1.0E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 60 0.12 45 6.8E-02
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		64 4 18 0.12 2 2.1E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 33 0.12 6 1.2E-02
CUI: C0241240
Disease: Tall stature
Tall stature 		79 14 18 0.11 3 2.9E-02
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		23 2 12 0.11 1 1.1E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 30 9.3E-02 20 4.7E-02
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		55 13 13 9.0E-02 2 1.9E-02
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 17 8.7E-02 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 21 8.7E-02 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 20 8.7E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 39 8.6E-02 2 1.4E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 37 8.5E-02 0 0
CUI: C0239479
Disease: Round face
Round face 		88 0 15 8.5E-02 0 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 13 8.4E-02 5 2.5E-02
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 19 8.4E-02 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 22 8.2E-02 0 0
CUI: C0221766
Disease: Diastasis recti
Diastasis recti 		22 1 9 7.8E-02 1 1.1E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 15 7.5E-02 1 8.7E-03
CUI: C1853237
Disease: Isolated cases
Isolated cases 		111 0 15 7.5E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 23 7.5E-02 1 8.4E-03
CUI: C0024421
Disease: Macroglossia
Macroglossia 		115 0 15 7.4E-02 0 0
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		43 0 10 7.4E-02 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 12 12 7.3E-02 1 9.6E-03
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 0 16 7.3E-02 0 0