Source: CLINVAR ×
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: C0014877
Disease: Esotropia
Esotropia 		33 38 17 0.16 12 8.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 30 0.16 24 9.3E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 32 0.15 31 9.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 17 0.14 16 9.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 47 0.14 52 9.1E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 13 0.13 15 0.12
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 17 0.13 15 8.0E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 14 0.12 9 6.0E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 31 0.12 29 7.6E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 14 0.12 12 7.1E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		28 31 12 0.11 14 0.10
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 14 0.11 15 9.3E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 11 0.11 6 4.4E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 12 0.11 4 2.6E-02
CUI: C0015310
Disease: Exotropia
Exotropia 		17 21 10 0.10 7 5.3E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 40 0.10 24 3.6E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 54 11 0.10 10 6.2E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 20 0.10 16 5.4E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 12 0.10 12 7.4E-02
CUI: C0456070
Disease: Growth delay
Growth delay 		31 40 11 0.10 8 5.3E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 12 1.0E-01 9 5.7E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 11 1.0E-01 11 7.6E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 50 11 9.9E-02 12 7.7E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 27 9.9E-02 14 2.7E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 13 9.8E-02 7 4.0E-02