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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 52 0.14 45 6.8E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 31 0.12 6 1.2E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 42 0.11 28 4.3E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 24 0.11 5 1.5E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 13 0.11 2 1.3E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 19 0.10 3 1.1E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 28 9.7E-02 20 4.7E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 12 9.6E-02 2 1.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 12 9.1E-02 4 2.4E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 51 10 9.1E-02 2 1.4E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 25 8.5E-02 5 9.9E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 11 8.2E-02 5 2.5E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 28 7.9E-02 4 6.7E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		26 25 7 7.0E-02 1 8.5E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 11 7.0E-02 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 0 7 6.9E-02 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 8 6.8E-02 1 6.0E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 7 6.4E-02 2 1.4E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 12 6.1E-02 1 3.9E-03
CUI: C0028754
Disease: Obesity
Obesity 		24 42 6 6.1E-02 1 7.5E-03
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 28 6 6.1E-02 2 1.7E-02
CUI: C0025202
Disease: melanoma
melanoma 		25 0 6 6.0E-02 0 0
CUI: C0241240
Disease: Tall stature
Tall stature 		11 14 5 5.7E-02 3 2.9E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 6 5.6E-02 0 0
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		15 0 5 5.5E-02 0 0