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: C0014394
Disease: Enuresis
Enuresis 		0 3 0 0 1 1.4E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0 39 0 0 1 9.3E-03
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		0 2 0 0 1 1.4E-02
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0 11 0 0 1 1.3E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0 19 0 0 1 1.1E-02
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0 10 0 0 1 1.3E-02
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0 4 0 0 1 1.4E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0 6 0 0 1 1.4E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		0 13 0 0 1 1.2E-02
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		0 6 0 0 1 1.4E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0 27 0 0 1 1.1E-02
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0 3 0 0 1 1.4E-02
CUI: C4023077
Disease: EEG with central focal spikes
EEG with central focal spikes 		0 2 0 0 1 1.4E-02
CUI: C4025792
Disease: EEG with irregular generalized spike and wave complexes
EEG with irregular generalized spike and wave complexes 		0 1 0 0 1 1.4E-02
CUI: C4317045
Disease: Gluten intolerance
Gluten intolerance 		0 1 0 0 1 1.4E-02
CUI: C4693362
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 		0 6 0 0 1 1.4E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 1.7E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 0 1 1.6E-02 0 0
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		1 0 1 1.9E-02 0 0
CUI: C0002871
Disease: Anemia
Anemia 		11 0 1 1.6E-02 0 0
CUI: C0002940
Disease: Aneurysm
Aneurysm 		12 0 1 1.5E-02 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 8 1 1.6E-02 1 1.3E-02
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 0 1 1.9E-02 0 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		2 0 1 1.8E-02 0 0
CUI: C0003578
Disease: Apnea
Apnea 		7 0 1 1.7E-02 0 0