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: C4025774
Disease: 1-3 toe syndactyly
1-3 toe syndactyly 		1 0 1 1.6E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 16 1 1.3E-02 1 9.3E-03
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		1 0 1 1.6E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 1.5E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 2 2.9E-02 2 2.0E-02
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		0 2 0 0 1 1.1E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 3 3.9E-02 2 1.8E-02
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		1 0 1 1.6E-02 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		4 5 1 1.5E-02 2 2.1E-02
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 2 3.1E-02 3 3.2E-02
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 10 2 2.7E-02 1 9.9E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 5 5.6E-02 6 4.9E-02
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		3 0 2 3.1E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 1 1.6E-02 0 0
CUI: C4477036
Disease: Abnormal location of the eyebrow
Abnormal location of the eyebrow 		1 0 1 1.6E-02 0 0
CUI: C4023359
Disease: Abnormal maternal serum screening
Abnormal maternal serum screening 		1 1 1 1.6E-02 1 1.1E-02
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		1 2 1 1.6E-02 2 2.2E-02
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		6 6 2 3.0E-02 1 1.0E-02
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		4 5 1 1.5E-02 2 2.1E-02
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		7 7 1 1.4E-02 1 1.0E-02
CUI: C1970591
Disease: Abnormal pupillary light reflex
Abnormal pupillary light reflex 		1 1 1 1.6E-02 1 1.1E-02
CUI: C0392188
Disease: Abnormal rapid eye movement sleep
Abnormal rapid eye movement sleep 		1 1 1 1.6E-02 1 1.1E-02
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 8 1 1.5E-02 2 2.0E-02
CUI: C4022728
Disease: Abnormal upper to lower segment ratio
Abnormal upper to lower segment ratio 		1 1 1 1.6E-02 1 1.1E-02
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		1 0 1 1.6E-02 0 0