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 159 334 0.15 2 1.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 272 0.14 10 1.7E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 255 2.5E-02 3 1.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 242 0.10 10 1.7E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 1641 222 2.5E-02 1 6.0E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 1374 221 2.6E-02 1 7.1E-04
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 208 0.33 1 1.6E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 207 0.14 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 203 0.20 2 1.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 200 0.17 4 6.6E-03
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 197 0.20 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 197 0.20 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 196 0.21 5 4.2E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 194 0.14 8 2.5E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 185 0.15 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 182 2.7E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 180 0.14 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 179 0.27 10 0.16
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 355 175 2.7E-02 1 2.6E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 173 2.5E-02 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 171 0.15 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 169 2.4E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 169 0.16 2 1.2E-02
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 166 2.5E-02 0 0
CUI: C0028754
Disease: Obesity
Obesity 		2821 0 166 5.4E-02 0 0