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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 40 2.2E-02 22 3.7E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 35 1.6E-02 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 34 3.3E-03 2 1.2E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 34 1.6E-02 15 2.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 32 3.2E-02 17 2.7E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 30 3.1E-02 18 8.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 29 3.4E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 28 2.6E-02 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 28 3.4E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 25 4.1E-02 8 7.8E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 25 2.2E-02 9 2.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 24 3.2E-02 6 4.3E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 24 4.1E-02 7 2.9E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 22 1.9E-02 8 1.8E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 22 2.6E-02 6 4.1E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 0 21 3.8E-03 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 21 1.6E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 21 4.2E-02 7 6.2E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 21 4.1E-02 8 7.0E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 21 4.5E-02 3 4.5E-03
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 21 3.7E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 21 2.0E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 20 2.9E-03 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 20 1.9E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 20 3.2E-02 5 3.8E-02