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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 32 1.5E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 29 2.3E-02 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 29 2.9E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 29 2.6E-02 1 3.4E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 29 2.8E-02 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 28 3.2E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 28 1.5E-02 2 3.6E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 27 3.3E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 26 1.2E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 22 2.0E-02 0 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		2322 0 21 9.0E-03 0 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 20 3.2E-03 0 0
CUI: C0003467
Disease: Anxiety
Anxiety 		1048 0 19 1.8E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 0 19 1.7E-02 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 19 2.2E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 19 3.1E-02 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 19 2.1E-02 0 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		5725 0 19 3.3E-03 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 18 2.6E-03 0 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		2803 0 18 6.4E-03 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 18 2.8E-03 0 0
CUI: C0028754
Disease: Obesity
Obesity 		2821 0 18 6.3E-03 0 0
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		4502 0 18 4.0E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 18 3.9E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 18 3.1E-02 0 0