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: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 2.4E-02 1 1.8E-02
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		3 3 2 0.17 2 1.0E-01
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 1 8.3E-02 0 0
CUI: C4021810
Disease: Abnormal location of ears
Abnormal location of ears 		1 0 1 9.1E-02 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		2 0 1 8.3E-02 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		1 1 1 9.1E-02 1 5.3E-02
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 13 1 5.3E-02 1 3.2E-02
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		4 15 1 7.1E-02 2 6.2E-02
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		2 0 1 8.3E-02 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		3 0 1 7.7E-02 0 0
CUI: C4025818
Disease: Abnormality of skeletal maturation
Abnormality of skeletal maturation 		1 1 1 9.1E-02 1 5.3E-02
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		3 0 1 7.7E-02 0 0
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		3 0 1 7.7E-02 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		21 0 1 3.2E-02 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 24 2 0.11 7 0.19
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		8 8 1 5.6E-02 1 3.8E-02
CUI: C4073188
Disease: Abnormality of the somatic nervous system
Abnormality of the somatic nervous system 		1 0 1 9.1E-02 0 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 11 2 0.13 2 7.1E-02
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		2 5 1 8.3E-02 2 9.1E-02
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		2 2 2 0.18 2 0.11
CUI: C0426816
Disease: Absence of rib
Absence of rib 		1 1 1 9.1E-02 1 5.3E-02
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		1 0 1 9.1E-02 0 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		1 0 1 9.1E-02 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		11 16 2 1.0E-01 2 6.1E-02
CUI: C0702166
Disease: Acne
Acne 		3 4 2 0.17 2 9.5E-02