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: C0018808
Disease: Heart murmur
Heart murmur 		11 10 3 0.15 3 0.15
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 5 0.14 3 7.5E-02
CUI: C1398312
Disease: Narrow palate
Narrow palate 		5 5 2 0.13 2 0.12
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		5 6 2 0.13 1 5.6E-02
CUI: C1853241
Disease: Flat face
Flat face 		6 7 2 0.12 2 0.11
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		7 8 2 0.12 1 5.0E-02
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		7 11 2 0.12 1 4.3E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 4 0.10 4 8.3E-02
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		10 10 2 1.0E-01 2 9.5E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		12 13 2 9.1E-02 2 8.3E-02
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 1 1 8.3E-02 1 7.7E-02
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		1 0 1 8.3E-02 0 0
CUI: C0028866
Disease: Oculomotor Nerve Paralysis
Oculomotor Nerve Paralysis 		1 0 1 8.3E-02 0 0
CUI: C0030353
Disease: Papilledema
Papilledema 		1 1 1 8.3E-02 1 7.7E-02
CUI: C0033999
Disease: Pterygium
Pterygium 		1 0 1 8.3E-02 0 0
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		14 0 2 8.3E-02 0 0
CUI: C0152190
Disease: Refractive amblyopia
Refractive amblyopia 		1 0 1 8.3E-02 0 0
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
Congenital stenosis of pulmonary valve 		1 0 1 8.3E-02 0 0
CUI: C0264169
Disease: Saddle nose
Saddle nose 		1 1 1 8.3E-02 1 7.7E-02
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
Congenital insufficiency of pulmonary valve 		1 0 1 8.3E-02 0 0
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
Hypertrophic cardiomyopathy without obstruction 		1 0 1 8.3E-02 0 0
CUI: C0344925
Disease: Perimembranous ventricular septal defect
Perimembranous ventricular septal defect 		1 1 1 8.3E-02 1 7.7E-02
CUI: C0392482
Disease: Common atrium
Common atrium 		1 1 1 8.3E-02 1 7.7E-02
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		1 29 1 8.3E-02 1 2.4E-02
CUI: C0431501
Disease: Bilateral arterial duct
Bilateral arterial duct 		1 1 1 8.3E-02 1 7.7E-02