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: C4025123
Disease: Congenital foot contraction deformities
Congenital foot contraction deformities 		1 0 1 1.00 0 0
CUI: C4747715
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT 		1 0 1 1.00 0 0
CUI: C0239361
Disease: EXTREMITY MUSCLE ATROPHY, LOWER
EXTREMITY MUSCLE ATROPHY, LOWER 		2 0 1 0.50 0 0
CUI: C0268687
Disease: Nutritional steatitis
Nutritional steatitis 		2 0 1 0.50 0 0
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		2 0 1 0.50 0 0
CUI: C4750288
Disease: Spinal muscular atrophy with lower extremity predominance
Spinal muscular atrophy with lower extremity predominance 		6 0 1 0.17 0 0
CUI: C4021642
Disease: Abnormality of the Achilles tendon
Abnormality of the Achilles tendon 		8 0 1 0.12 0 0
CUI: C4024957
Disease: Proximal spinal muscular atrophy
Proximal spinal muscular atrophy 		10 0 1 1.0E-01 0 0
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		12 15 1 8.3E-02 1 5.9E-02
CUI: C0239831
Disease: Hand muscle weakness
Hand muscle weakness 		14 0 1 7.1E-02 0 0
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		14 0 1 7.1E-02 0 0
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		25 0 1 4.0E-02 0 0
CUI: C0239815
Disease: Hand clenching
Hand clenching 		26 0 1 3.8E-02 0 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		26 7 1 3.8E-02 1 0.11
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		27 0 1 3.7E-02 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 1 3.6E-02 0 0
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		29 0 1 3.4E-02 0 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		30 1 1 3.3E-02 1 0.33
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		32 0 1 3.1E-02 0 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		36 4 1 2.8E-02 1 0.17
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 0 1 2.6E-02 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 1 2.6E-02 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 1 2.0E-02 0 0
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		53 0 1 1.9E-02 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 1 1.9E-02 0 0