Source: CLINVAR ×
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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 9 0.64 53 0.31
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 4 0.36 3 3.9E-02
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		6 32 4 0.31 12 0.13
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		3 17 3 0.27 10 0.12
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 6 0.25 19 0.21
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		11 51 4 0.22 3 2.5E-02
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 25 3 0.21 1 1.0E-02
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		6 53 3 0.21 21 0.20
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		6 12 3 0.21 1 1.2E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		13 82 4 0.20 1 6.5E-03
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		7 8 3 0.20 2 2.5E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 17 4 0.19 2 2.3E-02
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		8 8 3 0.19 2 2.5E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 5 0.19 1 1.1E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		2 2 2 0.18 2 2.7E-02
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		15 76 4 0.18 2 1.4E-02
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		2 8 2 0.18 8 0.11
CUI: C0424492
Disease: Coarse features
Coarse features 		2 2 2 0.18 1 1.4E-02
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		2 9 2 0.18 9 0.12
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		2 2 2 0.18 2 2.7E-02
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		2 5 2 0.18 1 1.3E-02
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		2 9 2 0.18 1 1.2E-02
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		2 2 2 0.18 1 1.4E-02
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		2 5 2 0.18 5 6.8E-02
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		2 2 2 0.18 2 2.7E-02