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: C0018800
Disease: Cardiomegaly
Cardiomegaly 		1 0 1 2.7E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 34 1 1.5E-02 2 2.1E-02
CUI: C0018916
Disease: Hemangioma
Hemangioma 		12 0 1 2.1E-02 0 0
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		4 5 1 2.5E-02 1 1.5E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		21 0 1 1.8E-02 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		22 0 1 1.7E-02 0 0
CUI: C0020450
Disease: Hyperemesis Gravidarum
Hyperemesis Gravidarum 		1 3 1 2.7E-02 3 4.8E-02
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		3 0 1 2.6E-02 0 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		25 33 1 1.6E-02 1 1.1E-02
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		14 0 1 2.0E-02 0 0
CUI: C0020649
Disease: Hypotension
Hypotension 		3 0 1 2.6E-02 0 0
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		9 0 1 2.2E-02 0 0
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 52 1 1.8E-02 1 8.8E-03
CUI: C0023798
Disease: Lipoma
Lipoma 		5 8 1 2.4E-02 1 1.4E-02
CUI: C0024031
Disease: Low Back Pain
Low Back Pain 		4 4 1 2.5E-02 1 1.5E-02
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		5 0 1 2.4E-02 0 0
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		1 0 1 2.7E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 0 1 1.2E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 1.3E-02 0 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		7 0 1 2.3E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 5.1E-03 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		20 0 1 1.8E-02 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		8 0 1 2.3E-02 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 0 1 1.6E-02 0 0
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		7 0 1 2.3E-02 0 0