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: C1862491
Disease: Internally rotated shoulders
Internally rotated shoulders 		1 0 1 1.00 0 0
CUI: C4025124
Disease: Limited elbow extension and supination
Limited elbow extension and supination 		2 0 1 0.50 0 0
CUI: C1859721
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE (disorder)
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE (disorder) 		4 0 1 0.25 0 0
CUI: C1838062
Disease: Autosomal Dominant Lateral Temporal Lobe Epilepsy
Autosomal Dominant Lateral Temporal Lobe Epilepsy 		8 0 1 0.12 0 0
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		19 0 1 5.3E-02 0 0
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		22 0 1 4.5E-02 0 0
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		33 0 1 3.0E-02 0 0
CUI: C0019553
Disease: Hip Contracture
Hip Contracture 		34 0 1 2.9E-02 0 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 1 2.5E-02 0 0
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		69 0 1 1.4E-02 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 1 1.4E-02 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 0 1 1.4E-02 0 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		82 0 1 1.2E-02 0 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		84 0 1 1.2E-02 0 0
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		89 0 1 1.1E-02 0 0
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		94 0 1 1.1E-02 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 0 1 9.4E-03 0 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 1 8.3E-03 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		121 0 1 8.3E-03 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 1 8.3E-03 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 1 8.1E-03 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 0 1 7.7E-03 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 1 6.6E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 6.2E-03 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 1 5.2E-03 0 0