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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 16 3 5.9E-02 2 3.2E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 6 1 2.2E-02 1 1.9E-02
CUI: C0232488
Disease: Abdominal colic
Abdominal colic 		1 0 1 2.5E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 3 6.5E-02 4 7.1E-02
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		3 2 1 2.4E-02 1 2.0E-02
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		2 0 1 2.4E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 3 5.7E-02 1 1.5E-02
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		4 10 2 4.8E-02 2 3.5E-02
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 0 1 2.4E-02 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		4 5 1 2.3E-02 2 3.8E-02
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 4 1 2.4E-02 1 1.9E-02
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		4 12 1 2.3E-02 1 1.7E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 6 9.1E-02 4 4.9E-02
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		3 13 1 2.4E-02 1 1.6E-02
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		3 3 1 2.4E-02 1 2.0E-02
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		2 7 2 5.0E-02 7 0.14
CUI: C1859481
Disease: Abnormal finger flexion creases
Abnormal finger flexion creases 		0 1 0 0 1 2.0E-02
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		1 0 1 2.5E-02 0 0
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		7 7 1 2.2E-02 1 1.8E-02
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology 		1 1 1 2.5E-02 1 2.0E-02
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		6 6 1 2.2E-02 1 1.9E-02
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		1 1 1 2.5E-02 1 2.0E-02
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		3 0 1 2.4E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		4 5 1 2.3E-02 2 3.8E-02
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		7 7 2 4.4E-02 2 3.7E-02