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 1.1E-02
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0 10 0 0 1 1.1E-02
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0 23 0 0 1 9.3E-03
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0 17 0 0 1 9.9E-03
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0 4 0 0 1 1.1E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0 6 0 0 1 1.1E-02
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		0 6 0 0 1 1.1E-02
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		0 3 0 0 1 1.1E-02
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0 3 0 0 1 1.1E-02
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0 23 0 0 1 9.3E-03
CUI: C4023077
Disease: EEG with central focal spikes
EEG with central focal spikes 		0 2 0 0 1 1.2E-02
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		0 3 0 0 1 1.1E-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 1.2E-02
CUI: C4317045
Disease: Gluten intolerance
Gluten intolerance 		0 1 0 0 1 1.2E-02
CUI: C4693362
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 		0 6 0 0 1 1.1E-02
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		1 0 1 1.6E-02 0 0
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		2 2 1 1.6E-02 1 1.2E-02
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 0 1 1.4E-02 0 0
CUI: C0001916
Disease: Albinism
Albinism 		4 18 1 1.6E-02 2 2.0E-02
CUI: C0002871
Disease: Anemia
Anemia 		11 0 1 1.4E-02 0 0
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		3 0 1 1.6E-02 0 0
CUI: C0003578
Disease: Apnea
Apnea 		7 0 1 1.5E-02 0 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		9 24 1 1.4E-02 3 2.8E-02
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		3 4 1 1.6E-02 2 2.3E-02
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		5 0 1 1.5E-02 0 0