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 553 191 0.10 1 1.8E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 178 8.1E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 135 6.1E-02 3 5.4E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 125 0.11 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 120 0.12 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 118 1.2E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 117 0.18 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 116 0.22 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 103 1.2E-02 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 97 1.2E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 89 0.24 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 87 0.23 1 1.2E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 84 0.12 2 3.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 83 9.9E-02 1 1.0E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 80 5.8E-02 1 8.3E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 80 1.2E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 79 1.1E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 78 0.13 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 78 0.15 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 77 7.0E-02 3 5.1E-03
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 76 0.12 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 74 0.13 2 3.9E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 73 4.1E-02 2 5.6E-03
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 72 1.1E-02 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 72 1.1E-02 0 0