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 0 178 6.3E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 622 0.32 65 8.9E-02
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 466 0.24 33 4.9E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 6 576 0.32 3 1.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		1156 0 65 2.9E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 13 1009 0.88 2 6.6E-03
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 75 3.6E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 1005 0.90 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 419 0.25 15 1.8E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 353 0.21 16 3.6E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 494 0.33 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 61 3.2E-02 0 0
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		843 0 61 3.2E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 323 0.20 11 3.0E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 314 0.20 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 314 0.20 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 422 0.29 11 2.7E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 332 0.22 0 0
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		718 6664 60 3.4E-02 4 5.8E-04
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		717 0 70 4.0E-02 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		687 0 47 2.7E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 334 0.23 10 2.7E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		681 0 57 3.3E-02 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 43 2.5E-02 0 0
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		641 0 49 2.9E-02 0 0