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: C0001193
Disease: Apert syndrome
Apert syndrome 		1 0 1 1.2E-02 0 0
CUI: C0003081
Disease: Anisometropia
Anisometropia 		1 1 1 1.2E-02 1 1.1E-02
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 0 1 1.2E-02 0 0
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		1 0 1 1.2E-02 0 0
CUI: C0006664
Disease: Calcinosis cutis
Calcinosis cutis 		1 0 1 1.2E-02 0 0
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor 		1 0 1 1.2E-02 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 1 1 1.2E-02 1 1.1E-02
CUI: C0008732
Disease: Chylous Ascites
Chylous Ascites 		1 0 1 1.2E-02 0 0
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		1 0 1 1.2E-02 0 0
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		1 1 1 1.2E-02 1 1.1E-02
CUI: C0018794
Disease: Heart Block
Heart Block 		1 0 1 1.2E-02 0 0
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		1 0 1 1.2E-02 0 0
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		1 0 1 1.2E-02 0 0
CUI: C0027961
Disease: Nevus of Ota
Nevus of Ota 		1 1 1 1.2E-02 1 1.1E-02
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		1 0 1 1.2E-02 0 0
CUI: C0029882
Disease: Otitis Media
Otitis Media 		1 0 1 1.2E-02 0 0
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms 		1 0 1 1.2E-02 0 0
CUI: C0030591
Disease: Paroxysmal ventricular tachycardia
Paroxysmal ventricular tachycardia 		1 0 1 1.2E-02 0 0
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1 0 1 1.2E-02 0 0
CUI: C0036631
Disease: Seminoma
Seminoma 		1 0 1 1.2E-02 0 0
CUI: C0037284
Disease: Skin lesion
Skin lesion 		1 0 1 1.2E-02 0 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		1 1 1 1.2E-02 1 1.1E-02
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		1 1 1 1.2E-02 1 1.1E-02
CUI: C0039621
Disease: Tetany
Tetany 		1 0 1 1.2E-02 0 0
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		1 0 1 1.2E-02 0 0