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: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 57 0.16 3 5.1E-02
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		32 0 22 0.15 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 41 0.15 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 45 0.14 3 7.9E-02
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		155 17 34 0.13 4 0.10
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		149 0 33 0.13 0 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		151 0 33 0.13 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 69 0.12 5 5.5E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 50 0.12 3 4.5E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 39 0.12 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 16 26 0.12 1 2.4E-02
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 17 0.12 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 45 0.12 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 38 0.12 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 18 0.11 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 37 0.11 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 18 0.11 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 43 0.11 3 5.8E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 33 0.11 5 0.15
CUI: C0221217
Disease: Neck webbing
Neck webbing 		78 19 21 0.11 2 4.7E-02
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 0 20 0.11 0 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		60 0 19 0.11 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 16 0.11 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 60 0.11 1 1.1E-02
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 0 15 0.11 0 0