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: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 73 0.14 3 2.8E-02
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 87 0.14 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 97 0.14 4 3.3E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 78 0.13 1 9.0E-03
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 57 0.13 8 6.2E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 82 0.13 2 1.7E-02
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		406 58 91 0.13 4 2.7E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 21 70 0.13 3 2.6E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 77 0.13 4 3.3E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 69 0.13 2 1.8E-02
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 58 0.13 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 74 0.13 3 2.3E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 162 0.13 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 151 0.13 5 7.5E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 90 0.12 1 7.5E-03
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 74 0.12 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 78 0.12 1 7.2E-03
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 0 94 0.12 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 71 0.12 1 8.5E-03
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 21 152 0.12 1 8.6E-03
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 63 0.12 3 2.5E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 73 0.12 2 1.7E-02
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 0 78 0.12 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 59 0.12 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 26 56 0.12 3 2.5E-02