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 553 751 0.37 65 1.0E-01
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 629 0.25 4 1.3E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 613 0.25 42 6.2E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 543 5.1E-02 1 5.5E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 503 0.35 9 1.2E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 484 5.3E-02 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 471 5.4E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 27 424 0.27 1 5.3E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 407 5.4E-02 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 397 5.4E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 353 0.20 16 3.6E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 346 0.24 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 343 4.7E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 341 0.18 2 8.4E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 327 4.8E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 325 0.20 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 323 0.22 3 1.3E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 323 0.22 7 2.8E-02
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 321 4.6E-02 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 313 0.22 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 313 0.22 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 308 0.21 5 1.7E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 308 0.23 17 7.2E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 307 0.25 25 7.6E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 1962 298 4.9E-02 1 4.7E-04