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: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		20 0 11 0.12 0 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 20 0.12 19 9.1E-02
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		11 33 10 0.12 26 0.13
CUI: C0277959
Disease: Coarse hair
Coarse hair 		60 0 15 0.12 0 0
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		71 0 16 0.11 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 15 14 0.11 3 1.5E-02
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 9 0.11 0 0
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 9 0.10 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 14 0.10 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 0 18 0.10 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 7 10 0.10 5 2.6E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 19 16 9.7E-02 2 9.8E-03
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		48 0 11 9.0E-02 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 22 9.0E-02 0 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		138 26 18 8.8E-02 3 1.4E-02
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 18 8.5E-02 0 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 11 8.5E-02 0 0
CUI: C0019618
Disease: Histiocytosis
Histiocytosis 		32 0 9 8.3E-02 0 0
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		178 0 20 8.2E-02 0 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		35 0 9 8.1E-02 0 0
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		104 0 14 8.0E-02 0 0
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma 		92 10 13 7.9E-02 1 5.1E-03
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 12 7 7.7E-02 11 5.9E-02
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma 		97 10 13 7.7E-02 1 5.1E-03
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		42 0 9 7.6E-02 0 0