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: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		11 0 7 0.37 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 7 0.37 0 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		8 0 6 0.35 0 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		18 0 8 0.32 0 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		14 0 7 0.32 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 11 0.28 0 0
CUI: C4022477
Disease: Onychogryposis of fingernail
Onychogryposis of fingernail 		4 0 4 0.27 0 0
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		5 0 4 0.25 0 0
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		5 0 4 0.25 0 0
CUI: C3887496
Disease: Oligodactyly
Oligodactyly 		20 0 7 0.25 0 0
CUI: C1854409
Disease: Naevus flammeus of the eyelid
Naevus flammeus of the eyelid 		6 0 4 0.24 0 0
CUI: C0728895
Disease: Absent finger
Absent finger 		26 0 7 0.21 0 0
CUI: C1303001
Disease: Congenital euryblepharon
Congenital euryblepharon 		9 0 4 0.20 0 0
CUI: C1849392
Disease: Ridged fingernail
Ridged fingernail 		9 0 4 0.20 0 0
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		3 0 3 0.20 0 0
CUI: C1849343
Disease: Duplication of the distal phalanx of hand
Duplication of the distal phalanx of hand 		4 0 3 0.19 0 0
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		4 0 3 0.19 0 0
CUI: C4021772
Disease: Bifid distal phalanx of toe
Bifid distal phalanx of toe 		4 0 3 0.19 0 0
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		4 0 3 0.19 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 7 0.18 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 7 0.18 0 0
CUI: C4020952
Disease: Fingernail dysplasia
Fingernail dysplasia 		11 0 4 0.18 0 0
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic 		18 0 5 0.18 0 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		32 0 7 0.17 0 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		33 0 7 0.17 0 0