Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Congenital hernia of foramen of Morgagni
19 0 19 7.9E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
223 19 34 7.9E-02 1 2.0E-02
CUI: C0016059
Disease: Fibrosis
Fibrosis
184 0 31 7.9E-02 0 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta
76 0 23 7.9E-02 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
187 0 31 7.8E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 53 60 7.8E-02 2 2.4E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
850 135 79 7.8E-02 2 1.2E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 0 60 7.8E-02 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata
80 9 23 7.8E-02 1 2.6E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
407 0 46 7.7E-02 0 0
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation
88 0 23 7.6E-02 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 0 46 7.5E-02 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia
148 0 27 7.5E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose
265 0 35 7.5E-02 0 0
CUI: C0024115
Disease: Lung diseases
Lung diseases
700 0 64 7.3E-02 0 0
Aplasia/Hypoplasia of the cerebellum
116 0 24 7.3E-02 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
235 0 32 7.2E-02 0 0
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
413 0 44 7.2E-02 0 0
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
254 0 33 7.2E-02 0 0
CUI: C0002793
Disease: Anaplasia
Anaplasia
538 0 52 7.2E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
284 39 35 7.2E-02 2 2.9E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum
182 0 28 7.1E-02 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
137 0 25 7.1E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1010 0 83 7.1E-02 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
274 83 34 7.1E-02 2 1.8E-02