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 4.5E-02 2 1.4E-02
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		1 0 1 4.5E-02 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		1 1 1 4.5E-02 1 7.4E-03
CUI: C0007097
Disease: Carcinoma
Carcinoma 		1 15 1 4.5E-02 2 1.4E-02
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 0 1 4.5E-02 0 0
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 0 1 4.5E-02 0 0
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		1 0 1 4.5E-02 0 0
CUI: C0021933
Disease: Intussusception
Intussusception 		1 0 1 4.5E-02 0 0
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		1 0 1 4.5E-02 0 0
CUI: C0030353
Disease: Papilledema
Papilledema 		1 0 1 4.5E-02 0 0
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1 74 1 4.5E-02 1 4.8E-03
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		1 1 1 4.5E-02 1 7.4E-03
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		1 0 1 4.5E-02 0 0
CUI: C0033999
Disease: Pterygium
Pterygium 		1 0 1 4.5E-02 0 0
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		1 86 1 4.5E-02 1 4.5E-03
CUI: C0037284
Disease: Skin lesion
Skin lesion 		1 0 1 4.5E-02 0 0
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		1 0 1 4.5E-02 0 0
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		1 5 1 4.5E-02 1 7.2E-03
CUI: C0041657
Disease: Unconscious State
Unconscious State 		1 0 1 4.5E-02 0 0
CUI: C0042138
Disease: Uterine Neoplasms
Uterine Neoplasms 		1 0 1 4.5E-02 0 0
CUI: C0152190
Disease: Refractive amblyopia
Refractive amblyopia 		1 0 1 4.5E-02 0 0
CUI: C0158763
Disease: Macrodactylia of fingers
Macrodactylia of fingers 		1 1 1 4.5E-02 1 7.4E-03
CUI: C0158768
Disease: Macrodactyly of toe
Macrodactyly of toe 		1 1 1 4.5E-02 1 7.4E-03
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
Congenital stenosis of pulmonary valve 		1 0 1 4.5E-02 0 0
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		1 7 1 4.5E-02 2 1.4E-02