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: C0728895
Disease: Absent finger
Absent finger 		26 0 10 0.20 0 0
CUI: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		11 0 7 0.19 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 7 0.19 0 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		18 0 8 0.19 0 0
CUI: C3887496
Disease: Oligodactyly
Oligodactyly 		20 0 8 0.18 0 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		14 0 7 0.17 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 10 0.17 0 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		8 0 6 0.17 0 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		15 0 7 0.17 0 0
CUI: C0175755
Disease: Congenital absent nipple
Congenital absent nipple 		7 0 5 0.14 0 0
CUI: C0425795
Disease: Absent nipple (finding)
Absent nipple (finding) 		7 0 5 0.14 0 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		32 0 8 0.14 0 0
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		35 0 8 0.13 0 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 9 0.13 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 7 0.12 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 7 0.12 0 0
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		5 0 4 0.12 0 0
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		5 0 4 0.12 0 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 18 0.12 0 0
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		15 0 5 0.12 0 0
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		38 0 7 0.11 0 0
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic 		18 0 5 0.11 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 0 10 0.11 0 0
CUI: C0042961
Disease: Intestinal Volvulus
Intestinal Volvulus 		42 0 7 0.10 0 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		21 0 5 0.10 0 0