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: C0348872
Disease: Disorders of both mitral and tricuspid valves
Disorders of both mitral and tricuspid valves 		1 1 1 1.00 1 0.17
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		1 12 1 1.00 5 0.38
CUI: C3854501
Disease: Neonatal testicular torsion
Neonatal testicular torsion 		1 0 1 1.00 0 0
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		1 9 1 1.00 3 0.25
CUI: C4020951
Disease: Pointed helix
Pointed helix 		1 0 1 1.00 0 0
CUI: C0158638
Disease: Congenital anomaly of cerebrovascular system
Congenital anomaly of cerebrovascular system 		2 0 1 0.50 0 0
CUI: C0344772
Disease: Cleft leaflet of mitral valve
Cleft leaflet of mitral valve 		2 0 1 0.50 0 0
CUI: C0178829
Disease: reproductive system disorder
reproductive system disorder 		3 0 1 0.33 0 0
CUI: C0334230
Disease: Malignant tumor, fusiform cell type
Malignant tumor, fusiform cell type 		4 0 1 0.25 0 0
CUI: C1511104
Disease: Benign Struma Ovarii
Benign Struma Ovarii 		5 0 1 0.20 0 0
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		5 0 1 0.20 0 0
CUI: C2986536
Disease: Bisphosphonate-associated osteonecrosis
Bisphosphonate-associated osteonecrosis 		6 0 1 0.17 0 0
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		6 0 1 0.17 0 0
CUI: C0019624
Disease: Histiocytosis, Non-Langerhans-Cell
Histiocytosis, Non-Langerhans-Cell 		9 0 1 0.11 0 0
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 1 0.11 0 0
CUI: C0585474
Disease: Ewing's sarcoma of bone
Ewing's sarcoma of bone 		10 0 1 1.0E-01 0 0
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 1 9.1E-02 0 0
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy 		11 0 1 9.1E-02 0 0
CUI: C0814152
Disease: Viral hepatitis, type G
Viral hepatitis, type G 		11 0 1 9.1E-02 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 1 9.1E-02 0 0
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		11 33 1 9.1E-02 1 2.6E-02
CUI: C0006384
Disease: Bundle-Branch Block
Bundle-Branch Block 		12 0 1 8.3E-02 0 0
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		12 0 1 8.3E-02 0 0
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 1 8.3E-02 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 0 1 7.7E-02 0 0