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: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 17 60 0.19 2 4.7E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 107 0.18 5 5.7E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 118 0.17 4 5.2E-02
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		175 6 55 0.17 3 9.7E-02
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 33 58 0.17 1 1.7E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 65 0.15 3 5.6E-02
CUI: C1836047
Disease: Long face
Long face 		182 0 50 0.15 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 90 0.15 3 3.2E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 101 0.14 9 9.4E-02
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 0 36 0.14 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 11 47 0.13 2 5.4E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 73 0.13 1 1.8E-02
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 54 0.12 2 2.9E-02
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 35 0.12 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 34 0.12 4 7.3E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 101 0.12 3 2.9E-02
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 37 0.12 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 63 0.12 3 2.5E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 85 0.12 3 3.7E-02
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 34 0.12 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 50 0.12 3 4.9E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		172 9 39 0.11 2 5.7E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 41 0.11 5 6.8E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 83 0.11 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 33 0.11 0 0