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: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		188 24 21 9.7E-02 1 2.9E-02
CUI: C0019288
Disease: Hernia, Femoral
Hernia, Femoral 		18 0 6 9.7E-02 0 0
CUI: C1844577
Disease: Hyperextensibility of the finger joints
Hyperextensibility of the finger joints 		18 0 6 9.7E-02 0 0
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		7 0 5 9.6E-02 0 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 0 6 9.5E-02 0 0
CUI: C0239137
Disease: Coxa valga
Coxa valga 		68 0 10 9.3E-02 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 12 9.2E-02 0 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 6 9.1E-02 0 0
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		71 0 10 9.0E-02 0 0
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		59 442 9 9.0E-02 2 4.4E-03
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		23 0 6 9.0E-02 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 6 9.0E-02 1 1.1E-02
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		11 0 5 8.9E-02 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 12 8.9E-02 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 14 15 8.9E-02 1 4.2E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 11 8.8E-02 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 16 13 8.8E-02 1 3.8E-02
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 9 13 8.7E-02 1 5.3E-02
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		25 0 6 8.7E-02 0 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		138 26 15 8.7E-02 1 2.8E-02
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		63 0 9 8.7E-02 0 0
CUI: C3551431
Disease: Sparse or absent eyelashes
Sparse or absent eyelashes 		13 0 5 8.6E-02 0 0
CUI: C0152235
Disease: Congenital genu recurvatum
Congenital genu recurvatum 		26 0 6 8.6E-02 0 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		40 0 7 8.4E-02 0 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 2 8 8.4E-02 1 8.3E-02