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: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 3 0.33 2 0.15
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		4 4 3 0.33 3 0.33
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		2 0 2 0.25 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		2 0 2 0.25 0 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		2 0 2 0.25 0 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		2 2 2 0.25 2 0.25
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		2 2 2 0.25 2 0.25
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		3 0 2 0.22 0 0
CUI: C0239676
Disease: High forehead
High forehead 		14 17 4 0.22 3 0.14
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 26 4 0.21 1 3.0E-02
CUI: C0027960
Disease: Nevus
Nevus 		4 0 2 0.20 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		10 10 3 0.20 1 5.9E-02
CUI: C1849221
Disease: Fair hair
Fair hair 		4 0 2 0.20 0 0
CUI: C1853638
Disease: Broad neck
Broad neck 		4 0 2 0.20 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 19 4 0.19 2 8.0E-02
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 19 3 0.19 1 3.8E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 3 0.19 2 2.5E-02
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		18 0 4 0.18 0 0
CUI: C0553721
Disease: Diminished sweating
Diminished sweating 		5 7 2 0.18 1 7.1E-02
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		5 5 2 0.18 1 8.3E-02
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		5 6 2 0.18 2 0.17
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 3 0.18 1 6.3E-03
CUI: C0024636
Disease: Malocclusion
Malocclusion 		6 6 2 0.17 1 7.7E-02
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		6 0 2 0.17 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		6 7 2 0.17 1 7.1E-02