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: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
0 35 0 0 2 3.6E-02
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
0 21 0 0 2 4.8E-02
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
0 92 0 0 2 1.8E-02
CUI: C0239676
Disease: High forehead
High forehead
0 17 0 0 2 5.3E-02
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve
0 13 0 0 2 5.9E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0 56 0 0 2 2.6E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
0 19 0 0 2 5.0E-02
CUI: C1836047
Disease: Long face
Long face
0 12 0 0 2 6.1E-02
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold
0 4 0 0 2 8.0E-02
CUI: C1844573
Disease: Large earlobe
Large earlobe
0 2 0 0 2 8.7E-02
CUI: C1844731
Disease: Hypoplastic nasal tip
Hypoplastic nasal tip
0 2 0 0 2 8.7E-02
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle
0 2 0 0 2 8.7E-02
CUI: C1854114
Disease: Short nose
Short nose
0 23 0 0 2 4.5E-02
Partial or complete agenesis of corpus callosum
0 6 0 0 2 7.4E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
0 38 0 0 2 3.4E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
0 32 0 0 2 3.8E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0 350 0 0 1 2.7E-03
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder
0 9 0 0 1 3.2E-02
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
36 8 1 2.6E-02 1 3.3E-02
Sensorineural Hearing Loss (disorder)
0 44 0 0 1 1.5E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0 240 0 0 1 3.8E-03
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0 3 0 0 1 4.0E-02
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome
0 2 0 0 1 4.2E-02
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome
0 7 0 0 1 3.4E-02
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation
0 6 0 0 1 3.6E-02