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: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		5 0 5 0.62 0 0
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		5 0 5 0.62 0 0
CUI: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		11 0 6 0.46 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 6 0.46 0 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		14 0 6 0.38 0 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		15 0 6 0.35 0 0
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		4 0 3 0.33 0 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		18 0 6 0.30 0 0
CUI: C3887496
Disease: Oligodactyly
Oligodactyly 		20 0 6 0.27 0 0
CUI: C1269700
Disease: Caliectasis
Caliectasis 		3 0 2 0.22 0 0
CUI: C1847363
Disease: Aplasia/Hypoplasia of the ribs
Aplasia/Hypoplasia of the ribs 		3 0 2 0.22 0 0
CUI: C0728895
Disease: Absent finger
Absent finger 		26 0 6 0.21 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 6 0.19 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 6 0.19 0 0
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic 		18 0 4 0.18 0 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		32 0 6 0.18 0 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		33 0 6 0.17 0 0
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		35 0 6 0.16 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 6 0.16 0 0
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		38 0 6 0.15 0 0
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		48 0 7 0.14 0 0
CUI: C0042961
Disease: Intestinal Volvulus
Intestinal Volvulus 		42 0 6 0.14 0 0
CUI: C0031575
Disease: Phocomelia
Phocomelia 		9 0 2 0.13 0 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 6 0.13 0 0
CUI: C0266177
Disease: Megaduodenum
Megaduodenum 		1 0 1 0.12 0 0