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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 2.9E-03 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 1 1.1E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 4 1.2E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 3 1.2E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 2 2.8E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 0 2 2.8E-02 0 0
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		18 22 1 3.7E-02 1 1.9E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 0 2 3.8E-02 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		16 0 1 4.0E-02 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 0 2 4.3E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 2 4.4E-02 0 0
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		12 27 1 4.8E-02 1 1.7E-02
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		12 0 1 4.8E-02 0 0
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		12 0 1 4.8E-02 0 0
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		11 108 1 5.0E-02 1 7.2E-03
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 0 2 5.1E-02 0 0
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		10 0 1 5.3E-02 0 0
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		10 10 1 5.3E-02 1 2.4E-02
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		9 7 1 5.6E-02 1 2.6E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 0 2 5.9E-02 0 0
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		8 0 1 5.9E-02 0 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 0 2 6.2E-02 0 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		7 0 1 6.2E-02 0 0
CUI: C0039231
Disease: Tachycardia
Tachycardia 		7 0 1 6.2E-02 0 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		7 0 1 6.2E-02 0 0