Source: CLINVAR ×
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: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		6 0 4 0.20 0 0
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		4 0 3 0.16 0 0
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		4 0 3 0.16 0 0
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		4 12 3 0.16 1 2.6E-02
CUI: C1857781
Disease: Diaphragmatic Hernia 3
Diaphragmatic Hernia 3 		2 0 2 0.11 0 0
CUI: C3151221
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 		2 0 2 0.11 0 0
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9 		2 3 2 0.11 1 3.3E-02
CUI: C4015619
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8
EPILEPSY, PROGRESSIVE MYOCLONIC, 8 		2 0 2 0.11 0 0
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome 		3 0 2 0.11 0 0
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		4 0 2 1.0E-01 0 0
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		4 0 2 1.0E-01 0 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		4 0 2 1.0E-01 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		19 0 3 8.8E-02 0 0
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		15 21 2 6.5E-02 1 2.1E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 3 5.8E-02 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		19 0 2 5.7E-02 0 0
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1 0 1 5.6E-02 0 0
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		1 0 1 5.6E-02 0 0
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic 		1 0 1 5.6E-02 0 0
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		1 127 1 5.6E-02 1 6.5E-03
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		1 31 1 5.6E-02 1 1.7E-02
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		1 15 1 5.6E-02 1 2.4E-02
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia 		1 0 1 5.6E-02 0 0
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1 0 1 5.6E-02 0 0
CUI: C0239594
Disease: Short finger
Short finger 		1 0 1 5.6E-02 0 0