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: C1820737
Disease: Temperature instability
Temperature instability 		12 8 3 3.0E-02 5 0.23
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 11 5.1E-02 8 0.21
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 7 2.8E-02 5 0.19
CUI: C0039231
Disease: Tachycardia
Tachycardia 		73 8 4 2.5E-02 4 0.17
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		18 8 2 1.9E-02 4 0.17
CUI: C4023370
Disease: Moderate intrauterine growth retardation
Moderate intrauterine growth retardation 		1 3 1 1.1E-02 3 0.16
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 11 4 3.7E-02 4 0.15
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 22 7.3E-02 12 0.15
CUI: C0973461
Disease: Dysphasia
Dysphasia 		63 4 4 2.7E-02 3 0.15
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		18 4 3 2.8E-02 3 0.15
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 6 5.1E-02 7 0.14
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		21 13 3 2.8E-02 4 0.14
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 14 13 6.5E-02 4 0.14
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		11 15 2 2.0E-02 4 0.13
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 14 4.6E-02 5 0.12
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		43 9 2 1.5E-02 3 0.12
CUI: C0342546
Disease: Premature adrenarche
Premature adrenarche 		18 11 1 9.3E-03 3 0.11
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 11 8 5.3E-02 3 0.11
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 4 2.1E-02 5 0.11
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 12 9 2.9E-02 3 0.11
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 2 2 2.0E-02 2 0.11
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold 		3 2 2 2.2E-02 2 0.11
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		64 34 6 4.0E-02 5 0.10
CUI: C0920299
Disease: Overriding toe
Overriding toe 		47 13 13 0.10 3 0.10
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 8 4.0E-02 4 0.10