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: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 73 0.14 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 17 58 0.14 4 0.11
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 53 0.14 1 2.2E-02
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 60 0.14 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 182 0.14 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 58 0.13 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 130 0.13 2 1.3E-02
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 43 0.13 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 44 0.13 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 53 0.13 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 55 0.13 1 2.6E-02
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 47 0.13 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 46 0.13 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 53 0.13 2 4.3E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 47 0.12 3 6.7E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 62 0.12 0 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 47 0.12 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 76 0.12 1 9.2E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 71 0.12 1 8.5E-03
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 49 0.12 0 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 0 43 0.12 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 11 39 0.12 1 3.0E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 68 0.12 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 46 0.12 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 105 0.12 3 3.0E-02