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: C0221217
Disease: Neck webbing
Neck webbing 		78 19 26 0.16 6 0.11
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		94 0 28 0.16 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 20 0.15 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 23 0.15 0 0
CUI: C0034089
Disease: Pulmonary Valve Stenosis
Pulmonary Valve Stenosis 		16 2 15 0.14 2 5.0E-02
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 3 15 0.14 1 2.4E-02
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		36 2 17 0.14 1 2.4E-02
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 82 16 0.14 6 5.2E-02
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 0 18 0.13 0 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 15 0.13 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 62 0.13 7 5.8E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 57 0.13 8 6.2E-02
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		32 0 16 0.13 0 0
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		111 0 25 0.13 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 11 22 0.13 1 2.0E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 0 27 0.13 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 28 0.13 0 0
CUI: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone 		29 0 15 0.12 0 0
CUI: C0581342
Disease: Redundant skin
Redundant skin 		48 0 17 0.12 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 36 0.12 3 5.4E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 19 22 0.12 5 9.3E-02
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		23 0 14 0.12 0 0
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 187 20 0.12 19 9.1E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 30 0.12 0 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 0 21 0.12 0 0