Source: INFERRED ×
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 0 14 7.1E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 68 4.6E-02 52 9.1E-02
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 54 4.1E-02 22 4.3E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 6 45 3.5E-02 2 1.6E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		1156 0 8 6.5E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 47 4.0E-02 29 7.6E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 13 32 2.9E-02 2 1.6E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 11 1.0E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 30 2.8E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 53 5.4E-02 24 3.6E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 56 5.7E-02 24 9.3E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 34 3.7E-02 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 7 7.5E-03 0 0
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		843 0 10 1.1E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 34 4.0E-02 13 6.9E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 30 3.6E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 30 3.6E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 30 3.6E-02 6 2.6E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 32 4.0E-02 0 0
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		718 6664 5 6.2E-03 1 1.5E-04
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		717 0 14 1.8E-02 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		687 0 4 5.2E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 40 5.5E-02 15 8.0E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		681 0 8 1.0E-02 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 5 6.9E-03 0 0