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: C0038379
Disease: Strabismus
Strabismus 		61 85 8 8.3E-02 8 6.3E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 6 8.3E-02 3 3.5E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		23 25 5 8.2E-02 3 4.2E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		10 13 4 8.2E-02 4 6.9E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 7 8.1E-02 6 5.9E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 26 8.1E-02 21 3.9E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 6 8.1E-02 3 3.5E-02
CUI: C0019572
Disease: Hirsutism
Hirsutism 		12 13 4 7.8E-02 2 3.3E-02
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		12 14 4 7.8E-02 5 8.6E-02
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		14 15 4 7.5E-02 2 3.2E-02
CUI: C0423113
Disease: Telecanthus
Telecanthus 		14 14 4 7.5E-02 2 3.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 12 7.5E-02 9 4.4E-02
CUI: C0013595
Disease: Eczema
Eczema 		15 18 4 7.4E-02 3 4.7E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 52 6 7.3E-02 2 2.0E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		16 19 4 7.3E-02 3 4.6E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 34 5 7.2E-02 4 5.1E-02
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 4 3 7.0E-02 4 8.2E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		19 18 4 6.9E-02 1 1.5E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		19 19 4 6.9E-02 2 3.0E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 4 6.9E-02 4 6.1E-02
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		19 20 4 6.9E-02 2 3.0E-02
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		4 4 3 6.8E-02 2 3.9E-02
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		4 4 3 6.8E-02 2 3.9E-02
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		4 4 3 6.8E-02 3 6.0E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 4 6.6E-02 4 5.6E-02