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: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 9 0.19 0 0
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 9 0.18 0 0
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		20 0 10 0.17 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 10 0.15 0 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		15 0 8 0.15 0 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		8 0 7 0.14 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 14 0.14 0 0
CUI: C0728895
Disease: Absent finger
Absent finger 		26 0 9 0.14 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 16 0.14 0 0
CUI: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		11 0 7 0.13 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 7 0.13 0 0
CUI: C3887496
Disease: Oligodactyly
Oligodactyly 		20 0 8 0.13 0 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		14 0 7 0.13 0 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		32 0 9 0.13 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 10 0.12 0 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		18 0 7 0.12 0 0
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		38 0 9 0.12 0 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 0 12 0.11 0 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 7 0.11 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 7 0.10 0 0
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		5 0 5 0.10 0 0
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		5 0 5 0.10 0 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 6 0.10 0 0
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic 		18 0 6 1.0E-01 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 7 9.9E-02 0 0