Source: ALL
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 35 147 0.14 2 1.4E-02
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 125 0.14 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 199 0.14 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 118 0.14 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 351 0.14 8 1.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 305 0.13 10 1.5E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 176 0.13 1 5.3E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 0 151 0.13 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 143 0.13 2 1.2E-02
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 122 0.12 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 112 0.12 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 104 0.12 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 18 105 0.12 2 1.6E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 203 0.12 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 145 0.12 0 0
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		163 66 102 0.12 5 2.9E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 129 0.12 1 5.1E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		634 0 151 0.12 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 185 0.12 3 1.1E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 139 0.12 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 113 0.12 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 107 0.11 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 129 0.11 1 5.6E-03
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 140 0.11 0 0
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		1075 276 186 0.11 2 5.2E-03