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: C1840077
Disease: Anteverted nostril
Anteverted nostril
407 35 145 0.16 1 1.3E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment
551 261 165 0.16 4 1.3E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism
1039 13 233 0.16 1 1.8E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
199 0 115 0.16 0 0
CUI: C0349588
Disease: Short stature
Short stature
1122 292 243 0.16 5 1.5E-02
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
158 0 103 0.15 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
158 12 102 0.15 2 3.7E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
734 0 175 0.15 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
304 0 119 0.15 0 0
CUI: C0085636
Disease: Photophobia
Photophobia
210 0 104 0.14 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
470 42 133 0.14 2 2.4E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
236 0 104 0.14 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
596 47 147 0.14 1 1.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
1458 505 248 0.14 8 1.5E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
295 0 109 0.13 0 0
CUI: C0026848
Disease: Myopathy
Myopathy
246 0 103 0.13 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus
106 0 86 0.13 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
855 0 174 0.13 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
101 0 85 0.13 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness
87 0 83 0.13 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
472 0 126 0.13 0 0
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
120 0 84 0.13 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
496 66 126 0.13 1 9.2E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
347 0 108 0.13 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
308 34 102 0.12 1 1.3E-02