Source: ALL
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: C1305855
Disease: Body mass index
Body mass index 		1014 0 1 9.6E-04 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.1E-03 0 0
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		843 0 1 1.2E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 1 1.2E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 1 1.2E-03 0 0
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		717 0 1 1.3E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 3 1.6E-03 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 1 1.6E-03 0 0
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		610 0 1 1.6E-03 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 1 1.6E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 3 1.6E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.6E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 1 1.7E-03 0 0
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		565 0 1 1.7E-03 0 0
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		1156 0 2 1.7E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 2 1.8E-03 0 0
CUI: C0027092
Disease: Myopia
Myopia 		490 0 1 1.9E-03 0 0
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		486 0 1 2.0E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 2 2.0E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 2 2.0E-03 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 0 1 2.1E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 2.2E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.2E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 2.2E-03 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 1 2.2E-03 0 0