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 3.3E-02 1 2.1E-02
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		1 0 1 3.3E-02 0 0
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		1 1 1 3.3E-02 1 2.6E-02
CUI: C0006664
Disease: Calcinosis cutis
Calcinosis cutis 		1 0 1 3.3E-02 0 0
CUI: C0007097
Disease: Carcinoma
Carcinoma 		1 0 1 3.3E-02 0 0
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma 		1 1 1 3.3E-02 1 2.6E-02
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 0 1 3.3E-02 0 0
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		1 0 1 3.3E-02 0 0
CUI: C0018564
Disease: Hand deformities
Hand deformities 		1 2 1 3.3E-02 2 5.1E-02
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		1 0 1 3.3E-02 0 0
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		1 1 1 3.3E-02 1 2.6E-02
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		1 0 1 3.3E-02 0 0
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		1 2 1 3.3E-02 1 2.5E-02
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		1 1 1 3.3E-02 1 2.6E-02
CUI: C0030353
Disease: Papilledema
Papilledema 		1 0 1 3.3E-02 0 0
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1 11 1 3.3E-02 2 4.2E-02
CUI: C0033999
Disease: Pterygium
Pterygium 		1 0 1 3.3E-02 0 0
CUI: C0039621
Disease: Tetany
Tetany 		1 1 1 3.3E-02 1 2.6E-02
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		1 1 1 3.3E-02 1 2.6E-02
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		1 1 1 3.3E-02 1 2.6E-02
CUI: C0152190
Disease: Refractive amblyopia
Refractive amblyopia 		1 1 1 3.3E-02 1 2.6E-02
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		1 1 1 3.3E-02 1 2.6E-02
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
Congenital stenosis of pulmonary valve 		1 0 1 3.3E-02 0 0
CUI: C0162510
Disease: Caroli Disease
Caroli Disease 		1 0 1 3.3E-02 0 0
CUI: C0206724
Disease: Sex Cord-Stromal Tumor
Sex Cord-Stromal Tumor 		1 0 1 3.3E-02 0 0