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 95 5.2E-02 10 1.8E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 75 3.4E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 66 6.6E-02 2 1.1E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 64 2.9E-02 3 5.3E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 63 5.4E-02 4 1.3E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 62 4.8E-02 1 1.0E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 58 5.5E-02 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 57 5.6E-03 2 1.2E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 54 4.8E-02 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 52 6.0E-03 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 51 5.6E-02 3 2.0E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 51 6.2E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 50 4.9E-02 6 1.0E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 48 8.6E-02 7 8.4E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 44 6.4E-03 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 42 6.0E-03 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 0 42 7.6E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 42 6.4E-02 4 4.3E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 42 7.6E-02 2 2.4E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 42 8.3E-02 1 1.6E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 42 6.7E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 41 9.1E-02 2 3.0E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 40 5.1E-02 4 3.8E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 40 6.4E-02 4 1.9E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 40 8.1E-02 2 4.0E-02