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 553 170 9.1E-02 110 0.13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 166 7.5E-02 5 8.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 150 6.8E-02 92 0.11
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 130 1.3E-02 3 1.5E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 112 1.3E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 112 0.11 45 4.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 110 1.3E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 103 9.7E-02 18 3.2E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 101 0.15 49 8.8E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 97 7.8E-02 32 4.8E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 94 0.11 18 3.7E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 92 7.8E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 92 0.16 9 8.8E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 3417 90 1.3E-02 1 2.6E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 2793 90 1.3E-02 1 3.1E-04
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 85 6.1E-02 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 81 1.2E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 80 7.0E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 78 5.8E-02 10 1.4E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 77 1.2E-02 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 77 0.12 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 76 6.1E-02 16 2.0E-02
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 75 1.2E-02 0 0
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		4502 1082 74 1.6E-02 2 1.3E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 74 0.10 6 1.3E-02