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: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 7 6.9E-02 0 0
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		41 30 7 6.8E-02 6 0.14
CUI: C4021959
Disease: Round ear
Round ear 		10 0 5 6.8E-02 0 0
CUI: C0426818
Disease: Thin rib
Thin rib 		42 0 7 6.7E-02 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 9 6.7E-02 0 0
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		43 14 7 6.7E-02 3 9.7E-02
CUI: C4048199
Disease: Ulnar deviation of the hand or of fingers of the hand
Ulnar deviation of the hand or of fingers of the hand 		11 0 5 6.7E-02 0 0
CUI: C0221217
Disease: Neck webbing
Neck webbing 		78 0 9 6.5E-02 0 0
CUI: C0032962
Disease: Pregnancy Complications
Pregnancy Complications 		13 0 5 6.5E-02 0 0
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		14 0 5 6.4E-02 0 0
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		147 0 13 6.4E-02 0 0
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		67 0 8 6.2E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 9 6.2E-02 0 0
CUI: C2584620
Disease: Thrombophilia, hereditary
Thrombophilia, hereditary 		17 9 5 6.2E-02 6 0.26
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 8 8 6.2E-02 1 3.7E-02
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 10 6.1E-02 0 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 0 6 6.1E-02 0 0
CUI: C0014390
Disease: Entropion
Entropion 		18 0 5 6.1E-02 0 0
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		18 0 5 6.1E-02 0 0
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		175 0 14 6.1E-02 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 14 8 6.0E-02 1 3.0E-02
CUI: C2584409
Disease: Prothrombin G20210A mutation
Prothrombin G20210A mutation 		20 9 5 6.0E-02 5 0.21
CUI: C0521525
Disease: Short neck
Short neck 		288 0 20 5.9E-02 0 0
CUI: C0009917
Disease: Contracture
Contracture 		111 0 10 5.9E-02 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 11 5.9E-02 0 0