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: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 50 4.9E-03 0 0
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		1180 140 49 4.0E-02 1 4.1E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 47 5.4E-03 0 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 0 45 5.4E-03 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 45 0.15 0 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		2322 0 40 1.7E-02 0 0
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		666 194 40 5.5E-02 1 3.4E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		6243 0 39 6.2E-03 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		6776 0 39 5.7E-03 0 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		6626 0 39 5.8E-03 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 38 5.4E-03 0 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		615 42 38 5.6E-02 1 6.9E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 36 2.7E-02 0 0
CUI: C0028754
Disease: Obesity
Obesity 		2821 0 36 1.2E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 36 1.6E-02 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 36 3.8E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 35 2.9E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 35 1.9E-02 4 6.1E-03
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		5725 0 35 6.0E-03 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 34 1.5E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 33 3.1E-02 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		6385 0 30 4.7E-03 0 0
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		1179 0 30 2.4E-02 0 0
CUI: C3887499
Disease: Renal cyst
Renal cyst 		170 17 30 0.13 2 1.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		5473 0 29 5.2E-03 0 0