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: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 82 24 0.44 2 1.9E-02
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 0 29 0.43 0 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 3 19 0.38 3 0.12
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 19 0.36 0 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 13 0.25 0 0
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 187 26 0.24 3 1.4E-02
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 14 0.23 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 16 0.23 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 13 0.22 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 13 0.22 1 9.4E-03
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 13 0.21 0 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		43 0 16 0.21 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 13 0.20 0 0
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 10 0.20 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 10 0.20 0 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		36 0 14 0.19 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 15 0.19 0 0
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		32 0 13 0.19 0 0
CUI: C0024236
Disease: Lymphedema
Lymphedema 		61 0 17 0.18 0 0
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		29 0 12 0.18 0 0
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva 		30 0 12 0.18 0 0
CUI: C0221217
Disease: Neck webbing
Neck webbing 		78 0 19 0.17 0 0
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		11 0 9 0.17 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 13 0.17 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 0 10 0.16 0 0