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: C1865014
Disease: Long philtrum
Long philtrum 		282 16 87 0.14 1 1.6E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 140 0.14 2 2.9E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 124 0.14 2 3.0E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 27 177 0.13 1 1.6E-03
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 102 0.13 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 76 0.13 2 3.1E-03
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 19 92 0.13 1 1.6E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 98 0.13 1 1.5E-03
CUI: C0521525
Disease: Short neck
Short neck 		288 29 84 0.13 2 3.1E-03
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 85 0.13 1 1.6E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 119 0.13 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 82 0.13 1 1.5E-03
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 98 0.13 1 1.5E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 88 0.13 1 1.5E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 93 0.13 2 3.0E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 77 0.13 2 2.8E-03
CUI: C1849265
Disease: Overgrowth
Overgrowth 		103 93 60 0.12 45 6.8E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 80 0.12 1 1.5E-03
CUI: C0239676
Disease: High forehead
High forehead 		211 17 70 0.12 2 3.2E-03
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 63 0.12 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 91 0.12 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 97 0.12 2 3.0E-03
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 80 0.12 2 3.1E-03
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 70 0.12 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 80 0.12 1 1.5E-03