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: C4025865
Disease: Abnormality of facial musculature
Abnormality of facial musculature 		1 1 1 1.00 1 8.3E-02
CUI: C1697450
Disease: obsolete Prominent epicanthal folds
obsolete Prominent epicanthal folds 		2 2 1 0.50 1 7.7E-02
CUI: C4023172
Disease: Broad chin
Broad chin 		2 0 1 0.50 0 0
CUI: C0031903
Disease: Pigeon Breeder's Lung
Pigeon Breeder's Lung 		5 0 1 0.20 0 0
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		5 3 1 0.20 1 7.1E-02
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		8 23 1 0.12 1 2.9E-02
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		10 7 1 1.0E-01 1 5.6E-02
CUI: C3277019
Disease: Horizontal eyebrow
Horizontal eyebrow 		11 0 1 9.1E-02 0 0
CUI: C1849025
Disease: Oval face
Oval face 		14 0 1 7.1E-02 0 0
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 0 1 3.7E-02 0 0
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		28 0 1 3.6E-02 0 0
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		29 2 1 3.4E-02 1 7.7E-02
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		30 25 1 3.3E-02 1 2.8E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 1 3.3E-02 1 1.8E-02
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 2 1 3.3E-02 1 7.7E-02
CUI: C4551492
Disease: Micropenis
Micropenis 		32 21 1 3.1E-02 1 3.1E-02
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		33 0 1 3.0E-02 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 3 1 2.9E-02 1 7.1E-02
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		36 13 1 2.8E-02 1 4.2E-02
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		39 3 1 2.6E-02 1 7.1E-02
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		41 4 1 2.4E-02 1 6.7E-02
CUI: C0234860
Disease: Weak cry
Weak cry 		42 4 1 2.4E-02 1 6.7E-02
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		42 0 1 2.4E-02 0 0
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		43 9 1 2.3E-02 1 5.0E-02
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 0 1 2.3E-02 0 0