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: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 0 1 2.2E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 10 3.8E-02 4 7.2E-03
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		2 0 1 2.6E-02 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1 9 1 2.7E-02 1 4.6E-03
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		1 0 1 2.7E-02 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		1 1 1 2.7E-02 1 4.7E-03
CUI: C0002170
Disease: Alopecia
Alopecia 		5 5 2 5.0E-02 1 4.7E-03
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 0 2 3.8E-02 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 0 1 2.2E-02 0 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		3 0 1 2.6E-02 0 0
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		4 0 1 2.5E-02 0 0
CUI: C0004096
Disease: Asthma
Asthma 		18 0 1 1.9E-02 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 0 1 2.0E-02 0 0
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		5 11 2 5.0E-02 2 9.1E-03
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		7 17 3 7.3E-02 5 2.2E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 4 5.7E-02 1 3.9E-03
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		3 0 1 2.6E-02 0 0
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		13 118 9 0.22 90 0.38
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 5 8.3E-02 5 5.0E-03
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		10 0 1 2.2E-02 0 0
CUI: C0006664
Disease: Calcinosis cutis
Calcinosis cutis 		1 0 1 2.7E-02 0 0
CUI: C0007097
Disease: Carcinoma
Carcinoma 		1 15 1 2.7E-02 1 4.4E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 0 3 6.1E-02 0 0
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		16 96 11 0.26 67 0.28
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		13 82 10 0.25 22 8.1E-02