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 231 8.6E-02 34 5.1E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
1458 0 127 5.4E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures
1292 0 97 4.4E-02 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
1259 0 97 4.5E-02 0 0
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
1156 2575 82 3.9E-02 9 1.7E-03
CUI: C0349588
Disease: Short stature
Short stature
1122 0 75 3.6E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
1039 0 63 3.2E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1005 0 62 3.2E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
954 0 74 3.9E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
942 0 88 4.7E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
855 0 64 3.5E-02 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability
854 2127 210 0.13 13 2.7E-03
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
843 1931 169 0.10 63 1.4E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
803 0 54 3.1E-02 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 52 3.0E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 52 3.0E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
773 0 55 3.2E-02 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
734 0 46 2.7E-02 0 0
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
718 6664 93 5.7E-02 8 8.6E-04
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
717 1599 96 5.9E-02 7 1.6E-03
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
687 1622 141 9.0E-02 11 2.6E-03
CUI: C0038379
Disease: Strabismus
Strabismus
682 0 60 3.7E-02 0 0
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
681 1322 102 6.4E-02 8 2.0E-03
CUI: C0021704
Disease: Intelligence
Intelligence
645 2093 150 9.9E-02 33 6.9E-03
Finding of Mean Corpuscular Hemoglobin
641 1206 72 4.5E-02 4 1.0E-03