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: C0001080
Disease: Achondroplasia
Achondroplasia 		1 9 1 3.0E-03 1 1.6E-03
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		1 0 1 3.0E-03 0 0
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		1 0 1 3.0E-03 0 0
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 0 1 3.0E-03 0 0
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		1 0 1 3.0E-03 0 0
CUI: C0006664
Disease: Calcinosis cutis
Calcinosis cutis 		1 0 1 3.0E-03 0 0
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor 		1 0 1 3.0E-03 0 0
CUI: C0007097
Disease: Carcinoma
Carcinoma 		1 0 1 3.0E-03 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 0 1 3.0E-03 0 0
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma 		1 0 1 3.0E-03 0 0
CUI: C0008487
Disease: Chordoma
Chordoma 		1 0 1 3.0E-03 0 0
CUI: C0008733
Disease: Chylothorax
Chylothorax 		1 0 1 3.0E-03 0 0
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 0 1 3.0E-03 0 0
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1 0 1 3.0E-03 0 0
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		1 0 1 3.0E-03 0 0
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		1 0 1 3.0E-03 0 0
CUI: C0016242
Disease: Vitreous floaters
Vitreous floaters 		1 0 1 3.0E-03 0 0
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1 165 1 3.0E-03 1 1.3E-03
CUI: C0018621
Disease: Hay fever
Hay fever 		1 0 1 3.0E-03 0 0
CUI: C0018794
Disease: Heart Block
Heart Block 		1 0 1 3.0E-03 0 0
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		1 0 1 3.0E-03 0 0
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		1 0 1 3.0E-03 0 0
CUI: C0018946
Disease: Hematoma, Subdural
Hematoma, Subdural 		1 0 1 3.0E-03 0 0
CUI: C0019270
Disease: Hernia
Hernia 		1 0 1 3.0E-03 0 0
CUI: C0019825
Disease: Hoarseness
Hoarseness 		1 0 1 3.0E-03 0 0