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 20 0.77 0 0
CUI: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		11 0 7 0.29 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 7 0.29 0 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		8 0 6 0.27 0 0
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand 		18 0 8 0.27 0 0
CUI: C0426868
Disease: Absence of hand
Absence of hand 		18 0 8 0.27 0 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		14 0 7 0.26 0 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		15 0 7 0.25 0 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		18 0 7 0.23 0 0
CUI: C0432028
Disease: Split foot
Split foot 		21 0 7 0.21 0 0
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		5 0 4 0.19 0 0
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		5 0 4 0.19 0 0
CUI: C0016508
Disease: Congenital Foot Deformity
Congenital Foot Deformity 		18 0 6 0.19 0 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		32 0 8 0.18 0 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		33 0 8 0.18 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 8 0.17 0 0
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		36 0 8 0.17 0 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 9 0.16 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 7 0.16 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 7 0.16 0 0
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		35 0 7 0.15 0 0
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		4 0 3 0.14 0 0
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		38 0 7 0.14 0 0
CUI: C0005741
Disease: Blepharitis
Blepharitis 		55 0 9 0.14 0 0
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		48 0 8 0.13 0 0