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: C4021262
Disease: Absent palmar crease
Absent palmar crease 		9 0 3 0.11 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 0 6 0.11 0 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 13 0.10 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 10 13 9.8E-02 1 4.2E-02
CUI: C0019553
Disease: Hip Contracture
Hip Contracture 		34 0 5 9.8E-02 0 0
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		12 0 3 9.7E-02 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 5 8.8E-02 0 0
CUI: C0033324
Disease: Prognathism
Prognathism 		3 0 2 8.7E-02 0 0
CUI: C0035353
Disease: Congenital retrognathism
Congenital retrognathism 		3 0 2 8.7E-02 0 0
CUI: C1862479
Disease: Absent phalangeal crease
Absent phalangeal crease 		3 0 2 8.7E-02 0 0
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		3 0 2 8.7E-02 0 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		16 0 3 8.6E-02 0 0
CUI: C4317152
Disease: Dimple chin
Dimple chin 		16 0 3 8.6E-02 0 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		55 5 6 8.5E-02 1 5.3E-02
CUI: C1857304
Disease: Flexion contracture of finger
Flexion contracture of finger 		17 0 3 8.3E-02 0 0
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		45 0 5 8.1E-02 0 0
CUI: C0750194
Disease: Non-sustained ventricular tachycardia
Non-sustained ventricular tachycardia 		5 0 2 8.0E-02 0 0
CUI: C1393871
Disease: Congenital finger flexion contractures
Congenital finger flexion contractures 		5 1 2 8.0E-02 1 6.7E-02
CUI: C1836589
Disease: Decreased hip abduction
Decreased hip abduction 		5 0 2 8.0E-02 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 0 7 8.0E-02 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 16 7.8E-02 0 0
CUI: C0920299
Disease: Overriding toe
Overriding toe 		47 13 5 7.8E-02 1 3.7E-02
CUI: C1861349
Disease: Absent distal interphalangeal creases
Absent distal interphalangeal creases 		6 1 2 7.7E-02 1 6.7E-02
CUI: C4025571
Disease: Type 1 fibers relatively smaller than type 2 fibers
Type 1 fibers relatively smaller than type 2 fibers 		6 0 2 7.7E-02 0 0
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		7 17 2 7.4E-02 1 3.2E-02