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: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		2 0 2 1.00 0 0
CUI: C0008733
Disease: Chylothorax
Chylothorax 		1 2 1 0.50 1 0.33
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		1 0 1 0.50 0 0
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		1 0 1 0.50 0 0
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		1 12 1 0.50 1 7.7E-02
CUI: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		1 1 1 0.50 1 0.50
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		1 2 1 0.50 1 0.33
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		1 0 1 0.50 0 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		2 0 1 0.33 0 0
CUI: C0239340
Disease: Edema of lower extremity
Edema of lower extremity 		2 0 1 0.33 0 0
CUI: C0240278
Disease: Lymphatic obstruction
Lymphatic obstruction 		2 0 1 0.33 0 0
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		2 0 1 0.33 0 0
CUI: C0424492
Disease: Coarse features
Coarse features 		2 0 1 0.33 0 0
CUI: C1285291
Disease: Fetal ascites
Fetal ascites 		2 0 1 0.33 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		2 0 1 0.33 0 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		2 0 1 0.33 0 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		2 0 1 0.33 0 0
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		2 0 1 0.33 0 0
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		2 0 1 0.33 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		3 4 1 0.25 1 0.20
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		3 3 1 0.25 1 0.25
CUI: C4024165
Disease: Prominent ear helix
Prominent ear helix 		3 3 1 0.25 1 0.25
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris 		3 0 1 0.25 0 0
CUI: C0027960
Disease: Nevus
Nevus 		4 0 1 0.20 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 0 1 0.20 0 0