Source: CLINVAR ×
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: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 7 8.5E-02 5 4.5E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 11 8.4E-02 4 2.3E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		37 94 7 8.3E-02 2 1.2E-02
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 26 5 7.8E-02 4 4.4E-02
CUI: C0020490
Disease: Hyperopia
Hyperopia 		16 17 5 7.7E-02 3 3.6E-02
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		16 22 5 7.7E-02 2 2.2E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 6 7.7E-02 5 4.5E-02
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		17 19 5 7.6E-02 4 4.8E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 27 7.5E-02 3 4.4E-03
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 6 7.4E-02 5 4.9E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 8 7.3E-02 4 2.8E-02
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		6 0 4 7.1E-02 0 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		7 10 4 7.0E-02 4 5.3E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 25 6.8E-02 10 1.6E-02
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		9 9 4 6.8E-02 2 2.6E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 9 6.7E-02 6 3.3E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		10 11 4 6.7E-02 2 2.6E-02
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		26 32 5 6.7E-02 3 3.1E-02
CUI: C0683322
Disease: Mental impairment
Mental impairment 		10 13 4 6.7E-02 1 1.2E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 5 6.7E-02 3 3.2E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 6 6.6E-02 2 1.6E-02
CUI: C0241240
Disease: Tall stature
Tall stature 		11 14 4 6.6E-02 1 1.2E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		11 13 4 6.6E-02 1 1.2E-02
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 36 5 6.5E-02 1 9.6E-03
CUI: C1837142
Disease: Poor suck
Poor suck 		28 31 5 6.5E-02 2 2.0E-02