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: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 180 0.85 8 9.6E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 141 0.11 1 9.8E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 137 1.3E-02 1 6.0E-04
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 127 0.11 2 6.3E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 1641 124 1.4E-02 1 6.0E-04
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 122 0.11 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 1374 120 1.4E-02 1 7.1E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 107 1.5E-02 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 105 1.5E-02 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 104 1.6E-02 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 100 1.5E-02 0 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 355 99 1.6E-02 1 2.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 97 4.3E-02 0 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		5725 0 90 1.5E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 86 8.9E-02 1 6.3E-03
CUI: C0028754
Disease: Obesity
Obesity 		2821 0 85 2.9E-02 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 1962 84 1.5E-02 3 1.5E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 84 3.7E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 84 0.15 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 83 4.3E-02 1 1.7E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 80 0.11 0 0
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		4502 0 80 1.7E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 77 7.0E-02 0 0
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		4388 0 77 1.7E-02 0 0
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 0 76 7.8E-02 0 0