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 553 321 0.17 21 3.6E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 286 0.13 1 4.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 265 0.12 20 3.4E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 231 0.19 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 222 0.20 9 4.4E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 221 2.1E-02 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 198 2.2E-02 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 194 2.3E-02 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 162 2.3E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 161 2.2E-02 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 157 0.19 7 7.8E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 144 0.12 8 1.3E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 143 9.5E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 140 0.10 10 3.0E-02
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 140 2.0E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 137 0.19 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 136 2.1E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 136 0.14 8 6.2E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 136 0.17 8 3.4E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 136 2.1E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 135 0.20 6 5.1E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 133 0.12 9 6.7E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 132 0.19 2 2.2E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		5725 0 131 2.2E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 131 0.10 0 0