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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 2 8.1E-03 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		16 0 2 7.7E-02 0 0
CUI: C0004239
Disease: Atrial Flutter
Atrial Flutter 		2 0 2 0.17 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.5E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 3 6.5E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 3 5.8E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 2 3.7E-02 0 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 0 1 2.9E-02 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		26 0 2 5.6E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 0 1 2.4E-02 0 0
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 0 2 7.1E-02 0 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		8 0 3 0.18 0 0
CUI: C0018808
Disease: Heart murmur
Heart murmur 		11 10 2 9.5E-02 1 4.3E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 2 4.3E-02 0 0
CUI: C0018916
Disease: Hemangioma
Hemangioma 		12 0 1 4.3E-02 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 0 1 2.8E-02 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		22 0 1 3.0E-02 0 0
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		10 0 1 4.8E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 3 4.2E-02 0 0
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		4 0 2 0.14 0 0
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		2 0 1 7.7E-02 0 0
CUI: C0023882
Disease: Little's Disease
Little's Disease 		6 0 1 5.9E-02 0 0
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		1 0 1 8.3E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 2.0E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 3 3.6E-02 1 9.4E-03