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: C1858085
Disease: Malar flattening
Malar flattening 		190 12 82 0.16 6 0.11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 117 0.16 6 9.1E-03
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 10 75 0.16 1 1.7E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 189 0.16 8 1.3E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 172 0.16 3 1.7E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 110 0.16 7 9.1E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 112 0.16 2 1.7E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 83 0.16 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 183 0.16 5 2.4E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 91 0.16 4 4.8E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 77 0.16 1 1.7E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 76 0.15 5 7.5E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 195 0.15 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 295 0.15 14 2.4E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 95 0.15 2 2.2E-02
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 70 0.15 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 74 0.15 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 100 0.15 2 1.4E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 85 0.15 2 2.4E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 8 73 0.15 2 3.6E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 108 0.14 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 52 104 0.14 1 1.0E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 21 76 0.14 1 1.4E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 90 0.14 3 2.9E-02
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 69 0.14 0 0