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 0.27 29 0.12
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 27 28 0.27 14 7.0E-02
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 4 22 0.26 4 2.1E-02
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		50 24 26 0.24 3 1.4E-02
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 3 19 0.22 2 1.1E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 16 0.17 59 0.28
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 3 18 0.17 1 5.3E-03
CUI: C0221217
Disease: Neck webbing
Neck webbing 		78 19 23 0.16 7 3.5E-02
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 14 0.16 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 15 0.16 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 11 23 0.16 1 5.1E-03
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 14 0.15 0 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 14 0.15 0 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		43 1 16 0.14 1 5.3E-03
CUI: C0024236
Disease: Lymphedema
Lymphedema 		61 0 18 0.14 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 14 0.14 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 15 0.14 0 0
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		32 0 14 0.14 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 15 0.13 0 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		36 2 14 0.13 1 5.3E-03
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 11 0.13 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 11 0.13 0 0
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		179 70 30 0.13 27 0.12
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 14 0.12 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 4 15 0.12 1 5.3E-03