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: C2673670
Disease: Curly eyelashes
Curly eyelashes 		15 0 11 0.28 0 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		30 0 14 0.27 0 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 16 0.25 0 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		30 0 13 0.25 0 0
CUI: C0014588
Disease: Epispadias
Epispadias 		30 0 12 0.23 0 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		18 0 9 0.20 0 0
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		15 0 8 0.19 0 0
CUI: C4021174
Disease: Microtia, third degree
Microtia, third degree 		10 0 7 0.18 0 0
CUI: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		11 0 7 0.18 0 0
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		11 0 7 0.18 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 7 0.18 0 0
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		19 0 8 0.17 0 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		33 0 10 0.17 0 0
CUI: C3887496
Disease: Oligodactyly
Oligodactyly 		20 0 8 0.17 0 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		14 0 7 0.17 0 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		14 0 7 0.17 0 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		8 0 6 0.16 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 9 0.16 0 0
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		17 0 7 0.16 0 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		32 0 9 0.16 0 0
CUI: C0728895
Disease: Absent finger
Absent finger 		26 0 8 0.15 0 0
CUI: C4020952
Disease: Fingernail dysplasia
Fingernail dysplasia 		11 0 6 0.15 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 8 0.14 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 12 0.14 0 0
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		15 0 6 0.14 0 0