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: C0004096
Disease: Asthma
Asthma 		2096 1536 4 1.9E-03 1 6.5E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 10 1.0E-02 1 1.7E-03
CUI: C0003467
Disease: Anxiety
Anxiety 		1048 287 5 4.7E-03 1 3.5E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 1 5.1E-03 1 8.1E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 17 2.3E-02 1 1.1E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 2 5.9E-03 1 1.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 2 7.7E-03 1 1.4E-02
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		276 54 2 6.6E-03 1 1.8E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 1 6.3E-03 1 2.0E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 13 3.8E-02 1 2.3E-02
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		615 42 6 9.4E-03 1 2.3E-02
CUI: C0456070
Disease: Growth delay
Growth delay 		244 40 9 3.4E-02 1 2.4E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 8 2.6E-02 1 2.6E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 1.6E-02 1 2.6E-02
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		78 37 2 1.9E-02 1 2.6E-02
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 32 2 8.4E-03 1 3.0E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 2 1.5E-02 1 3.1E-02
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		78 28 2 1.9E-02 1 3.4E-02
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 26 5 3.3E-02 1 3.7E-02
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 25 1 2.9E-03 1 3.8E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 13 6.5E-02 1 3.8E-02
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		75 24 2 1.9E-02 1 4.0E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 13 6.7E-02 1 4.2E-02
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 21 1 4.4E-03 1 4.5E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 10 4.1E-02 1 5.0E-02