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: C0016689
Disease: Freckles
Freckles 		2 0 1 2.6E-02 0 0
CUI: C0017601
Disease: Glaucoma
Glaucoma 		6 0 1 2.3E-02 0 0
CUI: C0018552
Disease: Hamartoma
Hamartoma 		4 0 1 2.4E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 2 2.7E-02 0 0
CUI: C0018916
Disease: Hemangioma
Hemangioma 		12 0 2 4.2E-02 0 0
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		2 0 1 2.6E-02 0 0
CUI: C0018932
Disease: Hematochezia
Hematochezia 		2 0 1 2.6E-02 0 0
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		4 0 1 2.4E-02 0 0
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		1 0 1 2.6E-02 0 0
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		2 0 1 2.6E-02 0 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 0 2 3.3E-02 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		9 0 1 2.2E-02 0 0
CUI: C0023418
Disease: leukemia
leukemia 		2 0 1 2.6E-02 0 0
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		4 0 2 5.0E-02 0 0
CUI: C0023798
Disease: Lipoma
Lipoma 		5 0 1 2.4E-02 0 0
CUI: C0023806
Disease: Lipomucopolysaccharidosis
Lipomucopolysaccharidosis 		2 0 1 2.6E-02 0 0
CUI: C0023882
Disease: Little's Disease
Little's Disease 		6 0 1 2.3E-02 0 0
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		1 0 1 2.6E-02 0 0
CUI: C0024421
Disease: Macroglossia
Macroglossia 		2 0 1 2.6E-02 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		10 0 1 2.1E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 9.0E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 5 2.6E-02 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 0 1 1.5E-02 0 0
CUI: C0027092
Disease: Myopia
Myopia 		45 0 2 2.5E-02 0 0
CUI: C0027960
Disease: Nevus
Nevus 		4 0 1 2.4E-02 0 0