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: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 9 0.75 0 0
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		20 0 9 0.45 0 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 6 0.32 0 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 0 6 0.27 0 0
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 4 0.25 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 6 0.25 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 4 0.25 0 0
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		11 0 4 0.25 0 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 6 0.24 0 0
CUI: C0344772
Disease: Cleft leaflet of mitral valve
Cleft leaflet of mitral valve 		2 0 2 0.22 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 0 4 0.22 0 0
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		2 0 2 0.22 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 9 0.21 0 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 6 0.21 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 6 0.21 0 0
CUI: C0178829
Disease: reproductive system disorder
reproductive system disorder 		3 0 2 0.20 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 0 6 0.19 0 0
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		48 0 9 0.19 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 6 0.19 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 0 5 0.19 0 0
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		4 0 2 0.18 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 0 5 0.18 0 0
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		32 0 6 0.17 0 0
CUI: C0263428
Disease: Burnett Schwartz Berberian syndrome
Burnett Schwartz Berberian syndrome 		5 0 2 0.17 0 0
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		5 0 2 0.17 0 0