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: C0152415
Disease: Ankyloglossia
Ankyloglossia 		2 2 2 0.18 2 0.14
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		4 4 2 0.15 2 0.12
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		4 5 2 0.15 2 0.12
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		5 5 2 0.14 2 0.12
CUI: C0423113
Disease: Telecanthus
Telecanthus 		14 14 3 0.14 2 7.7E-02
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		6 6 2 0.13 2 0.11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		6 53 2 0.13 2 3.1E-02
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		6 0 2 0.13 0 0
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		6 11 2 0.13 2 8.7E-02
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		6 7 2 0.13 2 0.11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		6 32 2 0.13 2 4.5E-02
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		8 8 2 0.12 2 1.0E-01
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 34 3 0.11 3 6.7E-02
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		9 11 2 0.11 2 8.7E-02
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		9 10 2 0.11 2 9.1E-02
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 24 2 0.11 2 5.6E-02
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		10 11 2 0.11 2 8.7E-02
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		11 0 2 1.0E-01 0 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		11 15 2 1.0E-01 2 7.4E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 3 1.0E-01 3 7.9E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 2 9.5E-02 3 1.8E-02
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 0 1 9.1E-02 0 0
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		1 0 1 9.1E-02 0 0
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		1 2 1 9.1E-02 2 0.14
CUI: C0023211
Disease: Left Bundle-Branch Block
Left Bundle-Branch Block 		1 0 1 9.1E-02 0 0