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: C0005890
Disease: Body Height
Body Height
1903 3972 180 7.4E-02 23 4.1E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
1458 0 84 4.0E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures
1292 0 71 3.7E-02 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
1259 0 68 3.6E-02 0 0
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
1156 2575 65 3.6E-02 9 2.2E-03
CUI: C0349588
Disease: Short stature
Short stature
1122 0 70 4.0E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
1039 0 65 3.8E-02 0 0
CUI: C1305855
Disease: Body mass index
Body mass index
1014 2689 96 5.9E-02 7 1.6E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1005 0 63 3.8E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
954 579 56 3.5E-02 1 4.6E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
942 0 56 3.5E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
855 0 45 2.9E-02 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability
854 2127 76 5.1E-02 3 8.1E-04
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
843 1931 112 7.7E-02 26 7.4E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus
803 0 39 2.6E-02 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 39 2.7E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 39 2.7E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
773 0 42 2.9E-02 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
734 0 31 2.2E-02 0 0
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
718 6664 50 3.6E-02 3 3.6E-04
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
687 1622 71 5.3E-02 4 1.2E-03
CUI: C0038379
Disease: Strabismus
Strabismus
682 0 46 3.4E-02 0 0
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
681 1322 129 0.10 42 1.5E-02
CUI: C0021704
Disease: Intelligence
Intelligence
645 2093 64 4.9E-02 5 1.4E-03
Finding of Mean Corpuscular Hemoglobin
641 1206 243 0.22 229 8.9E-02