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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 47 0.31 38 0.15
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 17 0.17 11 7.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 26 0.15 16 6.6E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 19 0.13 10 5.3E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 29 0.11 2 4.0E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 12 0.11 6 3.8E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 31 0.11 23 4.7E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 48 11 0.11 1 7.1E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 13 0.11 4 2.3E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 25 9 0.10 5 4.4E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 13 0.10 5 2.5E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 10 9.9E-02 3 2.3E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 51 10 9.7E-02 7 5.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 33 9.6E-02 12 2.0E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 11 9.4E-02 2 1.3E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 34 9.1E-02 2 2.8E-03
CUI: C0241210
Disease: Speech Delay
Speech Delay 		11 8 7 9.0E-02 5 5.2E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 9 8.8E-02 2 1.5E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 19 8.8E-02 1 3.0E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 33 8.8E-02 6 9.0E-03
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		13 13 7 8.7E-02 1 9.5E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 18 8.3E-02 7 2.1E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 9 8.3E-02 3 2.0E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		37 94 8 7.8E-02 2 1.1E-02
CUI: C0683322
Disease: Mental impairment
Mental impairment 		10 0 6 7.7E-02 0 0