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: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 16 0.17 59 0.28
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 82 24 0.27 29 0.12
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		179 70 30 0.13 27 0.12
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		11 33 10 0.12 26 0.13
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		6 26 6 7.1E-02 23 0.12
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 33 2.8E-02 22 4.8E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 20 0.12 19 9.1E-02
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		5 29 1 1.1E-02 18 9.1E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 25 5.0E-02 18 2.3E-02
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		2 30 2 2.4E-02 18 9.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 28 1.5E-02 15 2.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 28 4.3E-02 14 5.6E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 78 7.7E-03 14 7.7E-03
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 27 28 0.27 14 7.0E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		3111 6892 54 1.7E-02 12 1.7E-03
CUI: C0025202
Disease: melanoma
melanoma 		3087 515 58 1.9E-02 12 1.7E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 17 5.3E-02 11 2.1E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 27 4.1E-02 11 4.7E-02
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 12 7 7.7E-02 11 5.9E-02
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		31 24 3 2.7E-02 11 5.5E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 1641 73 8.5E-03 10 5.5E-03
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		1447 291 30 2.0E-02 10 2.1E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		3926 712 53 1.3E-02 9 1.0E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 635 30 4.9E-02 9 1.1E-02
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		827 60 21 2.4E-02 9 3.8E-02