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: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		3 0 1 2.6E-02 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		4 0 1 2.5E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 3 4.5E-02 2 2.0E-02
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		3 3 2 5.3E-02 2 3.1E-02
CUI: C4022648
Disease: Abnormal muscle fiber dystrophin expression
Abnormal muscle fiber dystrophin expression 		1 0 1 2.7E-02 0 0
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		7 7 1 2.3E-02 1 1.4E-02
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		2 0 1 2.6E-02 0 0
CUI: C4023612
Disease: Abnormality of cellular immune system
Abnormality of cellular immune system 		4 0 1 2.5E-02 0 0
CUI: C4023591
Disease: Abnormality of circulating enzyme level
Abnormality of circulating enzyme level 		1 0 1 2.7E-02 0 0
CUI: C4021663
Disease: Abnormality of muscle fibers
Abnormality of muscle fibers 		2 2 1 2.6E-02 1 1.6E-02
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		1 0 1 2.7E-02 0 0
CUI: C4023166
Disease: Abnormality of T cell physiology
Abnormality of T cell physiology 		4 0 1 2.5E-02 0 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		2 0 1 2.6E-02 0 0
CUI: C4021637
Disease: Abnormality of the nares
Abnormality of the nares 		2 0 1 2.6E-02 0 0
CUI: C4023625
Disease: Absence of stomach bubble on fetal sonography
Absence of stomach bubble on fetal sonography 		1 0 1 2.7E-02 0 0
CUI: C4022625
Disease: Absent muscle fiber calpain-3
Absent muscle fiber calpain-3 		1 2 1 2.7E-02 1 1.6E-02
CUI: C0234146
Disease: Absent reflex
Absent reflex 		11 16 5 0.12 4 5.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 1 1.2E-02 1 7.5E-03
CUI: C0702166
Disease: Acne
Acne 		3 4 2 5.3E-02 2 3.1E-02
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		1 0 1 2.7E-02 0 0
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		5 8 1 2.4E-02 1 1.4E-02
CUI: C1837407
Disease: Ankle contracture
Ankle contracture 		3 3 2 5.3E-02 1 1.5E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 2 3.1E-02 2 2.1E-02
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		16 0 3 6.0E-02 0 0
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		2 0 1 2.6E-02 0 0