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: C0003862
Disease: Arthralgia
Arthralgia 		12 0 1 4.0E-03 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		12 0 1 4.0E-03 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		12 0 1 4.0E-03 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		12 0 1 4.0E-03 0 0
CUI: C0002871
Disease: Anemia
Anemia 		11 0 1 4.0E-03 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		11 0 1 4.0E-03 0 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		11 0 1 4.0E-03 0 0
CUI: C0233794
Disease: Memory impairment
Memory impairment 		11 0 1 4.0E-03 0 0
CUI: C0241210
Disease: Speech Delay
Speech Delay 		11 0 1 4.0E-03 0 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		11 0 1 4.0E-03 0 0
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		11 0 1 4.0E-03 0 0
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		11 0 1 4.0E-03 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		11 0 1 4.0E-03 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		10 0 1 4.1E-03 0 0
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		10 0 1 4.1E-03 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		10 0 1 4.1E-03 0 0
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		10 0 1 4.1E-03 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		10 0 1 4.1E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		10 0 1 4.1E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		10 0 1 4.1E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		10 0 1 4.1E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 0 1 4.1E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		9 0 1 4.1E-03 0 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		9 0 1 4.1E-03 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		9 0 1 4.1E-03 0 0