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: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		50 11 11 0.16 8 0.16
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		13 4 5 0.13 2 4.2E-02
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		5 81 4 0.13 1 7.9E-03
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		11 7 4 0.11 1 1.9E-02
CUI: C1844592
Disease: Soft skin
Soft skin 		22 3 5 0.11 1 2.1E-02
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting 		33 0 6 0.11 0 0
CUI: C0220679
Disease: Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified 		3 0 3 1.0E-01 0 0
CUI: C4021962
Disease: Genital hernia
Genital hernia 		3 0 3 1.0E-01 0 0
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 37 3 9.7E-02 1 1.2E-02
CUI: C0155760
Disease: Rupture of artery
Rupture of artery 		5 0 3 9.4E-02 0 0
CUI: C1844597
Disease: Molluscoid pseudotumors
Molluscoid pseudotumors 		5 0 3 9.4E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 6 9.2E-02 2 2.0E-02
CUI: C0019555
Disease: Hip Dislocation, Congenital
Hip Dislocation, Congenital 		6 0 3 9.1E-02 0 0
CUI: C0271633
Disease: Disorder of endocrine pancreas
Disorder of endocrine pancreas 		6 0 3 9.1E-02 0 0
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		30 17 5 9.1E-02 8 0.15
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		32 0 5 8.8E-02 0 0
CUI: C0432363
Disease: Shagreen patch
Shagreen patch 		8 0 3 8.6E-02 0 0
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		34 16 5 8.5E-02 1 1.6E-02
CUI: C0002940
Disease: Aneurysm
Aneurysm 		22 0 4 8.3E-02 0 0
CUI: C0410787
Disease: Hereditary Connective Tissue Disorder
Hereditary Connective Tissue Disorder 		9 0 3 8.3E-02 0 0
CUI: C0575484
Disease: Long thorax
Long thorax 		9 0 3 8.3E-02 0 0
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		9 5 3 8.3E-02 3 6.2E-02
CUI: C3887531
Disease: Keratoglobus
Keratoglobus 		9 0 3 8.3E-02 0 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		23 3 4 8.2E-02 2 4.3E-02
CUI: C1858732
Disease: Malar prominence
Malar prominence 		10 0 3 8.1E-02 0 0