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: C1839797
Disease: Deep philtrum
Deep philtrum 		42 0 6 6.0E-02 0 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 5 6.0E-02 0 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		43 0 6 5.9E-02 0 0
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure 		8 0 4 5.9E-02 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 9 13 5.8E-02 1 2.4E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 10 5.8E-02 6 6.9E-02
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 11 14 5.8E-02 2 4.7E-02
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 8 5.8E-02 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 14 5.8E-02 9 0.12
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping 		10 0 4 5.7E-02 0 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		84 0 8 5.7E-02 0 0
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		11 15 4 5.6E-02 6 0.14
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		30 5 5 5.6E-02 2 5.4E-02
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		30 0 5 5.6E-02 0 0
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		31 0 5 5.6E-02 0 0
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		12 3 4 5.6E-02 1 2.8E-02
CUI: C0426789
Disease: Short thorax
Short thorax 		51 0 6 5.5E-02 0 0
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		32 0 5 5.5E-02 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 17 12 5.4E-02 3 6.2E-02
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 45 12 5.4E-02 8 0.11
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 0 10 5.3E-02 0 0
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		55 13 6 5.3E-02 5 0.12
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 7 5.3E-02 0 0
CUI: C1836195
Disease: Short toe
Short toe 		56 3 6 5.3E-02 1 2.8E-02
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 8 5.2E-02 0 0