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: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum
138 0 1 1.8E-03 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes
129 0 1 1.8E-03 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
123 0 1 1.9E-03 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth
122 0 1 1.9E-03 0 0
CUI: C0014877
Disease: Esotropia
Esotropia
121 0 1 1.9E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia
118 0 1 1.9E-03 0 0
Aplasia/Hypoplasia of the cerebellum
116 0 1 1.9E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
115 0 1 1.9E-03 0 0
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face
114 0 1 1.9E-03 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
113 0 1 1.9E-03 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
112 0 1 1.9E-03 0 0
CUI: C1843108
Disease: Short palm
Short palm
110 0 1 1.9E-03 0 0
CUI: C0575802
Disease: Small hand
Small hand
108 0 1 1.9E-03 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
106 0 1 1.9E-03 0 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
106 0 1 1.9E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep
104 0 1 1.9E-03 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
104 0 1 1.9E-03 0 0
CUI: C1837142
Disease: Poor suck
Poor suck
103 0 1 1.9E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
100 0 1 1.9E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
98 0 1 2.0E-03 0 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney
96 8 1 2.0E-03 2 2.2E-02
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
96 0 1 2.0E-03 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
96 0 1 2.0E-03 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
95 0 1 2.0E-03 0 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
95 0 1 2.0E-03 0 0