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: C1853638
Disease: Broad neck
Broad neck 		22 10 6 6.4E-02 9 0.45
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		31 24 2 1.9E-02 7 0.19
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		6 26 4 5.0E-02 6 0.15
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		99 12 6 3.5E-02 4 0.15
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		5 29 1 1.2E-02 6 0.14
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 26 0.16 6 0.11
CUI: C0004239
Disease: Atrial Flutter
Atrial Flutter 		13 2 3 3.4E-02 2 0.11
CUI: C0340477
Disease: Re-entrant atrioventricular tachycardia
Re-entrant atrioventricular tachycardia 		2 2 2 2.6E-02 2 0.11
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 2 4 4.0E-02 2 0.11
CUI: C3805969
Disease: Scapular muscle atrophy
Scapular muscle atrophy 		4 2 2 2.5E-02 2 0.11
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		5 2 2 2.5E-02 2 0.11
CUI: C4023223
Disease: Atrial reentry tachycardia
Atrial reentry tachycardia 		2 2 2 2.6E-02 2 0.11
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		29 3 3 2.9E-02 2 1.0E-01
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		10 3 2 2.3E-02 2 1.0E-01
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 13 0.15 9 9.7E-02
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 4 2 1.7E-02 2 9.5E-02
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		29 4 2 1.9E-02 2 9.5E-02
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		32 4 10 1.0E-01 2 9.5E-02
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		12 4 4 4.7E-02 2 9.5E-02
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		123 5 3 1.5E-02 2 9.1E-02
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression 		24 5 3 3.0E-02 2 9.1E-02
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		33 5 2 1.8E-02 2 9.1E-02
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		40 5 5 4.4E-02 2 9.1E-02
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		19 6 5 5.4E-02 2 8.7E-02
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		179 70 14 5.8E-02 7 8.5E-02