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: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 7 0.41 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 7 0.41 0 0
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		5 0 4 0.29 0 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 0 7 0.28 0 0
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		6 26 4 0.27 7 0.23
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		11 33 5 0.26 3 7.1E-02
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 7 0.25 0 0
CUI: C4022755
Disease: Functional abnormality of the gastrointestinal tract
Functional abnormality of the gastrointestinal tract 		7 0 4 0.25 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 7 0.24 10 0.12
CUI: C0009681
Disease: Anomalous pulmonary artery
Anomalous pulmonary artery 		14 0 5 0.23 0 0
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 4 0.22 0 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 5 0.21 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 0 7 0.21 0 0
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		23 0 6 0.20 0 0
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		5 0 3 0.20 0 0
CUI: C4024692
Disease: Reduced factor XIII activity
Reduced factor XIII activity 		5 0 3 0.20 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 7 6 0.19 1 5.6E-02
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 4 0.19 0 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		25 0 6 0.19 0 0
CUI: C3551431
Disease: Sparse or absent eyelashes
Sparse or absent eyelashes 		13 0 4 0.18 0 0
CUI: C0398639
Disease: Amegakaryocytic thrombocytopenia
Amegakaryocytic thrombocytopenia 		7 0 3 0.18 0 0
CUI: C2676026
Disease: Optic nerve dysplasia
Optic nerve dysplasia 		7 0 3 0.18 0 0
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		14 0 4 0.17 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 5 0.17 0 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		35 0 7 0.17 0 0