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: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		1 0 1 1.00 0 0
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		6 0 1 0.17 0 0
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		13 0 1 7.7E-02 0 0
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 0 1 3.7E-02 0 0
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		27 0 1 3.7E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 0 1 3.1E-02 0 0
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		55 0 1 1.8E-02 0 0
CUI: C0004930
Disease: Behavior Disorders
Behavior Disorders 		77 0 1 1.3E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 1 1.2E-02 0 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		87 0 1 1.1E-02 0 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		87 0 1 1.1E-02 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 0 1 1.1E-02 0 0
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		90 0 1 1.1E-02 0 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		103 0 1 9.7E-03 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 1 9.6E-03 0 0
CUI: C0085631
Disease: Agitation
Agitation 		109 0 1 9.2E-03 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 1 9.0E-03 0 0
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		114 0 1 8.8E-03 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 1 8.2E-03 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 1 8.1E-03 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 1 8.0E-03 0 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 0 1 7.5E-03 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		148 0 1 6.8E-03 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 1 6.3E-03 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 0 1 5.8E-03 0 0