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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 10 1.0E-02 4 2.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 9 4.9E-03 3 5.4E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 7 8.1E-04 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 7 6.9E-04 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 7 3.2E-03 3 5.4E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 7 1.6E-02 1 1.6E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 7 1.1E-03 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 7 8.5E-04 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 7 3.2E-03 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 6 8.6E-04 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 6 4.7E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 6 5.6E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 6 8.3E-03 3 3.2E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 6 1.3E-02 2 2.9E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 6 1.1E-02 2 1.0E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		5725 0 6 1.0E-03 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 0 5 9.1E-04 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 5 5.9E-03 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 30 5 9.4E-03 1 2.6E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 5 1.4E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 5 5.1E-03 2 3.4E-03
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 5 7.8E-04 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		2872 0 5 1.7E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 5 1.0E-02 1 1.4E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 5 9.9E-03 1 1.3E-02