Source: ALL
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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 111 0.14 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 92 0.13 1 1.6E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 106 0.13 2 2.4E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 0 78 0.12 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 82 0.12 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 81 0.12 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 80 0.12 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 88 0.11 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 110 0.11 0 0
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		424 0 77 0.11 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 141 0.11 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 91 0.11 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 127 0.11 1 1.7E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 60 0.10 0 0
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		607 0 90 0.10 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 100 0.10 0 0
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		406 0 70 0.10 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 199 0.10 1 1.8E-03
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 77 0.10 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 224 9.8E-02 2 1.1E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 53 9.6E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 82 9.5E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 49 9.5E-02 1 2.3E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 331 123 9.4E-02 1 2.9E-03
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 62 9.4E-02 0 0