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 553 298 0.15 13 2.2E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 293 0.13 2 1.0E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 282 2.7E-02 2 1.2E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 1641 257 2.9E-02 1 6.0E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 1374 253 3.0E-02 1 7.1E-04
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 243 0.17 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 239 0.10 7 1.2E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 232 0.18 10 3.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 219 0.27 10 9.4E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 219 0.18 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 211 0.18 7 1.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 210 2.9E-02 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 208 3.0E-02 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 199 2.9E-02 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 194 2.9E-02 0 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 193 3.0E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 188 0.20 6 4.9E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 186 0.14 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 185 0.22 2 2.2E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 184 0.25 10 0.11
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 183 0.28 6 9.5E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 179 0.16 3 1.8E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 179 0.27 10 0.16
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 176 0.18 1 8.5E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 176 0.15 11 5.7E-02