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: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0 24 0 0 1 3.7E-03
CUI: C0014394
Disease: Enuresis
Enuresis 		0 3 0 0 1 4.0E-03
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0 6 0 0 1 4.0E-03
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		0 2 0 0 1 4.0E-03
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0 10 0 0 1 3.9E-03
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0 4 0 0 1 4.0E-03
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		0 3 0 0 1 4.0E-03
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0 3 0 0 1 4.0E-03
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 3.7E-03
CUI: C4025792
Disease: EEG with irregular generalized spike and wave complexes
EEG with irregular generalized spike and wave complexes 		0 1 0 0 1 4.1E-03
CUI: C4317045
Disease: Gluten intolerance
Gluten intolerance 		0 1 0 0 1 4.1E-03
CUI: C4693362
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 		0 6 0 0 1 4.0E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 0 1 4.0E-03 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		45 0 1 4.9E-03 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 5.0E-03 0 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		35 0 1 5.2E-03 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 1 5.3E-03 1 1.4E-03
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		28 0 1 5.3E-03 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 0 1 5.3E-03 0 0
CUI: C0028754
Disease: Obesity
Obesity 		24 42 1 5.5E-03 1 3.5E-03
CUI: C0011053
Disease: Deafness
Deafness 		23 0 1 5.5E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		23 42 1 5.5E-03 1 3.5E-03
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		21 48 1 5.6E-03 1 3.4E-03
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		17 0 1 5.7E-03 0 0
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		17 0 1 5.7E-03 0 0