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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
160 246 44 0.14 58 0.12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
303 505 59 0.14 65 8.9E-02
Delayed speech and language development
124 192 37 0.13 26 5.7E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
89 118 31 0.12 29 7.6E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
335 611 52 0.11 12 1.3E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
22 27 20 0.10 23 7.8E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
88 106 26 0.10 19 5.0E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance
211 411 37 0.10 32 4.8E-02
CUI: C0036572
Disease: Seizures
Seizures
237 417 36 9.2E-02 33 4.9E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
336 579 44 9.1E-02 15 1.8E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
237 350 35 8.9E-02 7 1.1E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
30 39 18 8.9E-02 15 4.7E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
37 39 18 8.6E-02 10 3.1E-02
CUI: C0027092
Disease: Myopia
Myopia
45 52 17 7.8E-02 8 2.4E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
63 77 18 7.7E-02 16 4.5E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
63 92 17 7.2E-02 11 2.9E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
128 164 21 7.1E-02 16 3.6E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
26 35 14 6.9E-02 16 5.1E-02
CUI: C0521525
Disease: Short neck
Short neck
26 29 14 6.9E-02 13 4.2E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
28 54 14 6.9E-02 11 3.3E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
45 62 15 6.8E-02 11 3.2E-02
CUI: C0038379
Disease: Strabismus
Strabismus
61 85 16 6.8E-02 10 2.7E-02
CUI: C0456070
Disease: Growth delay
Growth delay
31 40 14 6.8E-02 8 2.5E-02
CUI: C0014877
Disease: Esotropia
Esotropia
33 38 14 6.7E-02 11 3.4E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth
35 40 14 6.6E-02 9 2.8E-02