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: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 1019 0.74 6 1.7E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 1010 0.90 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 701 6.6E-02 3 1.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 675 0.26 3 6.7E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 659 0.29 66 8.5E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 1641 654 7.2E-02 2 1.0E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 1374 636 7.3E-02 2 1.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 526 7.0E-02 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 516 7.0E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 514 0.31 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 514 0.19 33 4.1E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 355 488 7.1E-02 1 1.5E-03
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 327 472 6.7E-02 2 3.2E-03
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 169 465 6.4E-02 1 2.2E-03
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		5725 942 445 6.9E-02 1 8.1E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 1962 434 7.0E-02 3 1.3E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 431 0.28 12 2.9E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 420 0.25 15 1.8E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 376 0.25 5 1.4E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		4502 0 373 7.1E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 362 0.27 7 2.1E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 360 0.22 0 0
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		4388 0 357 6.9E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 353 0.20 16 3.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 337 0.22 10 2.7E-02