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: C1275836
Disease: D - transposition of the great vessels
D - transposition of the great vessels 		1 0 1 0.14 0 0
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		1 0 1 0.14 0 0
CUI: C3279888
Disease: Frontal lobe atrophy
Frontal lobe atrophy 		1 0 1 0.14 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome 		1 0 1 0.14 0 0
CUI: C1837245
Disease: Carney Complex Variant
Carney Complex Variant 		2 0 1 0.12 0 0
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 		2 0 1 0.12 0 0
CUI: C1858493
Disease: FEBRILE CONVULSIONS, FAMILIAL, 4
FEBRILE CONVULSIONS, FAMILIAL, 4 		2 0 1 0.12 0 0
CUI: C1969656
Disease: MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 (disorder)
MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 (disorder) 		2 0 1 0.12 0 0
CUI: C4225402
Disease: PREMATURE OVARIAN FAILURE 10
PREMATURE OVARIAN FAILURE 10 		2 0 1 0.12 0 0
CUI: C0005899
Disease: Body Rocking
Body Rocking 		3 0 1 0.11 0 0
CUI: C1384582
Disease: Primary testicular failure
Primary testicular failure 		4 0 1 1.0E-01 0 0
CUI: C1863516
Disease: Microcephaly with Simplified Gyral Pattern
Microcephaly with Simplified Gyral Pattern 		4 0 1 1.0E-01 0 0
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		4 0 1 1.0E-01 0 0
CUI: C0265226
Disease: Hecht syndrome (disorder)
Hecht syndrome (disorder) 		5 0 1 9.1E-02 0 0
CUI: C0018672
Disease: Head Banging
Head Banging 		7 0 1 7.7E-02 0 0
CUI: C4024965
Disease: Frontal cortical atrophy
Frontal cortical atrophy 		8 0 1 7.1E-02 0 0
CUI: C0431366
Disease: Congenital malformation of corpus callosum
Congenital malformation of corpus callosum 		9 0 1 6.7E-02 0 0
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		10 0 1 6.2E-02 0 0
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		11 0 1 5.9E-02 0 0
CUI: C1513269
Disease: Microcysts
Microcysts 		12 0 1 5.6E-02 0 0
CUI: C2239222
Disease: Vascular Endothelial Growth Factor Measurement
Vascular Endothelial Growth Factor Measurement 		12 0 1 5.6E-02 0 0
CUI: C0265886
Disease: Overriding aorta
Overriding aorta 		17 0 1 4.3E-02 0 0
CUI: C4280669
Disease: Velopharyngeal dysfunction
Velopharyngeal dysfunction 		18 0 1 4.2E-02 0 0
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		22 0 1 3.6E-02 0 0
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		22 0 1 3.6E-02 0 0