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: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 0 1 2.4E-02 0 0
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		1 1 1 3.3E-02 1 2.6E-02
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 0 1 2.6E-02 0 0
CUI: C0003467
Disease: Anxiety
Anxiety 		13 20 1 2.4E-02 1 1.7E-02
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		3 0 1 3.1E-02 0 0
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		5 0 1 2.9E-02 0 0
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		3 117 1 3.1E-02 1 6.5E-03
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		5 0 1 2.9E-02 0 0
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		7 17 1 2.8E-02 1 1.8E-02
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		7 9 1 2.8E-02 1 2.1E-02
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		8 15 1 2.7E-02 1 1.9E-02
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		3 3 1 3.1E-02 1 2.4E-02
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		13 0 1 2.4E-02 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		10 11 1 2.6E-02 1 2.0E-02
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		7 0 1 2.8E-02 0 0
CUI: C0006325
Disease: Bruxism
Bruxism 		4 6 1 3.0E-02 1 2.3E-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: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		16 0 1 2.2E-02 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 1 1.7E-02 1 2.0E-03
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 0 1 2.3E-02 0 0
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		16 0 1 2.2E-02 0 0
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma 		1 1 1 3.3E-02 1 2.6E-02