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 159 246 0.11 1 6.0E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 241 0.12 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 238 2.3E-02 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 219 2.5E-02 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 217 2.6E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 204 8.8E-02 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 195 2.8E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 194 2.7E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 175 0.12 1 1.2E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 175 2.7E-02 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 167 2.4E-02 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 164 2.5E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 157 0.12 1 3.3E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 153 0.13 0 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		5725 0 153 2.6E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 152 0.12 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 1962 151 2.7E-02 1 5.1E-04
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 143 0.22 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 143 0.12 0 0
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		4502 0 141 3.0E-02 0 0
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		4388 0 140 3.0E-02 0 0
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		3865 0 137 3.3E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 136 0.17 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 134 0.12 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 131 0.14 0 0