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 24 0.16 14 5.7E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 51 12 0.15 9 8.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 22 0.14 14 6.4E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 25 8 0.12 4 4.4E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 32 0.12 22 4.7E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 12 0.12 5 3.9E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 48 10 0.12 8 7.3E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 12 0.11 4 2.2E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 7 0.11 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 26 0.11 15 3.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 35 0.11 20 3.6E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 13 0.11 2 1.3E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 10 0.11 8 6.7E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 9 0.11 9 8.3E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 8 0.11 5 4.9E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 11 0.10 7 4.5E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 52 9 1.0E-01 4 3.4E-02
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 18 6 9.8E-02 7 8.7E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 8 9.6E-02 7 6.8E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		26 25 7 9.6E-02 5 5.6E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 6 9.5E-02 2 2.5E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 8 9.4E-02 6 4.3E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 8 9.4E-02 1 7.9E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 11 9.4E-02 2 1.3E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 8 8.9E-02 1 6.9E-03