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 159 322 0.14 8 1.0E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 308 3.0E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 308 0.16 17 1.5E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 1641 294 3.4E-02 1 4.4E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 1374 290 3.5E-02 1 5.0E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 269 0.24 255 0.27
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 264 0.11 16 1.4E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 3417 223 3.1E-02 1 2.5E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 2793 223 3.2E-02 1 2.9E-04
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 221 3.4E-02 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 221 3.2E-02 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 212 3.2E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 206 0.14 7 1.0E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 203 0.15 12 1.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 201 0.17 5 6.4E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 1962 196 3.4E-02 2 7.8E-04
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		5725 942 189 3.2E-02 1 6.4E-04
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 187 0.15 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 179 0.18 7 1.0E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 27 177 0.13 1 1.6E-03
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		4502 0 172 3.6E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 171 0.33 213 0.28
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 171 0.15 3 4.0E-03
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		4388 0 164 3.5E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 158 0.18 6 8.7E-03