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: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 34 10 0.17 8 0.12
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 8 0.17 7 9.5E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 8 0.15 6 9.7E-02
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		15 16 6 0.13 3 5.4E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 11 0.12 6 5.3E-02
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 19 5 0.12 2 3.3E-02
CUI: C0018916
Disease: Hemangioma
Hemangioma 		12 15 5 0.11 3 5.5E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 28 6 0.11 3 4.4E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 6 0.11 4 5.9E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 6 0.11 4 5.9E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 7 0.10 4 5.1E-02
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		6 7 4 0.10 1 2.0E-02
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
Morphological abnormality of the central nervous system 		8 7 4 9.8E-02 2 4.2E-02
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 8 4 9.5E-02 3 6.2E-02
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		10 15 4 9.3E-02 3 5.5E-02
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		10 11 4 9.3E-02 2 3.8E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 7 9.2E-02 7 6.9E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 6 8.8E-02 5 5.7E-02
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		13 60 4 8.7E-02 1 9.8E-03
CUI: C0152421
Disease: Macrotia
Macrotia 		14 18 4 8.5E-02 5 8.9E-02
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		14 14 4 8.5E-02 2 3.6E-02
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 26 4 8.3E-02 2 3.0E-02
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy 		3 2 3 8.1E-02 2 4.7E-02
CUI: C0344760
Disease: Congenital atresia of mitral valve
Congenital atresia of mitral valve 		3 2 3 8.1E-02 1 2.3E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 52 6 7.9E-02 2 2.2E-02