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: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 0 16 0.40 0 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 16 0.37 0 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 14 0.36 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 82 16 0.33 1 1.2E-02
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 14 0.32 0 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 14 0.29 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 14 0.29 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 14 0.27 0 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		36 0 15 0.26 0 0
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		32 0 14 0.25 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 16 0.25 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 0 16 0.24 0 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		43 0 15 0.23 0 0
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		50 0 16 0.23 0 0
CUI: C0221217
Disease: Neck webbing
Neck webbing 		78 0 21 0.22 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 14 0.22 0 0
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 8 0.20 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 8 0.20 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 0 10 0.20 0 0
CUI: C0024236
Disease: Lymphedema
Lymphedema 		61 0 16 0.20 0 0
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		7 0 7 0.19 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 19 0.18 0 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		9 0 7 0.18 0 0
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 187 18 0.17 1 5.3E-03
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 7 9 0.17 1 0.11