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: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		2 0 1 5.0E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 2.9E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 0 1 3.3E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 2.0E-02 1 1.7E-02
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		1 1 1 5.3E-02 1 4.3E-02
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		1 0 1 5.3E-02 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		7 10 1 4.0E-02 2 6.5E-02
CUI: C4477036
Disease: Abnormal location of the eyebrow
Abnormal location of the eyebrow 		1 0 1 5.3E-02 0 0
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		1 2 1 5.3E-02 2 8.7E-02
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		3 3 1 4.8E-02 1 4.0E-02
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology 		1 0 1 5.3E-02 0 0
CUI: C4023458
Disease: Abnormal shape of the frontal region
Abnormal shape of the frontal region 		2 2 1 5.0E-02 1 4.2E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 1 8.3E-03 0 0
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue 		3 0 1 4.8E-02 0 0
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		0 3 0 0 1 4.0E-02
CUI: C4025865
Disease: Abnormality of facial musculature
Abnormality of facial musculature 		1 1 1 5.3E-02 1 4.3E-02
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		3 5 1 4.8E-02 2 7.7E-02
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		3 5 1 4.8E-02 2 7.7E-02
CUI: C4025875
Disease: Abnormality of the anterior fontanelle
Abnormality of the anterior fontanelle 		2 3 1 5.0E-02 1 4.0E-02
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		6 8 1 4.2E-02 2 6.9E-02
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 1 4.5E-02 2 7.7E-02
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		4 0 1 4.5E-02 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		21 0 1 2.6E-02 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 0 1 3.7E-02 0 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		5 4 2 9.1E-02 1 3.8E-02