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: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		3 3 2 1.6E-02 1 6.0E-03
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		1 0 1 7.8E-03 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		2 0 1 7.8E-03 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		7 0 1 7.5E-03 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 8 1 7.6E-03 2 1.2E-02
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		2 0 2 1.6E-02 0 0
CUI: C4072950
Disease: Abnormal timing of pattern reversal visual evoked potentials
Abnormal timing of pattern reversal visual evoked potentials 		1 0 1 7.8E-03 0 0
CUI: C4025678
Disease: Abnormal trachea morphology
Abnormal trachea morphology 		1 1 1 7.8E-03 1 6.1E-03
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		6 6 1 7.5E-03 1 5.9E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 131 8 3.6E-02 1 3.4E-03
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		2 0 1 7.8E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 0 2 1.5E-02 0 0
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue 		3 0 1 7.7E-03 0 0
CUI: C4023333
Disease: Abnormality of corneal thickness
Abnormality of corneal thickness 		1 2 1 7.8E-03 2 1.2E-02
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		1 0 1 7.8E-03 0 0
CUI: C4025865
Disease: Abnormality of facial musculature
Abnormality of facial musculature 		1 1 1 7.8E-03 1 6.1E-03
CUI: C4023722
Disease: Abnormality of hair texture
Abnormality of hair texture 		2 1 2 1.6E-02 1 6.1E-03
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		2 0 1 7.8E-03 0 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		3 3 1 7.7E-03 1 6.0E-03
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		3 2 3 2.3E-02 2 1.2E-02
CUI: C4021663
Disease: Abnormality of muscle fibers
Abnormality of muscle fibers 		2 2 1 7.8E-03 1 6.1E-03
CUI: C4073241
Disease: Abnormality of nasopharyngeal adenoids
Abnormality of nasopharyngeal adenoids 		1 0 1 7.8E-03 0 0
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		4 3 2 1.5E-02 1 6.0E-03
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		3 5 1 7.7E-03 1 6.0E-03
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		1 1 1 7.8E-03 1 6.1E-03