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 3.3E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 9 3.6E-02 1 2.1E-03
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		2 0 1 4.3E-02 0 0
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: C0002170
Disease: Alopecia
Alopecia 		5 5 2 8.0E-02 1 7.2E-03
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 0 1 2.6E-02 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 0 1 3.3E-02 0 0
CUI: C0003467
Disease: Anxiety
Anxiety 		13 0 1 2.9E-02 0 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		3 0 1 4.2E-02 0 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		3 0 1 4.2E-02 0 0
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		4 0 1 4.0E-02 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 0 1 2.8E-02 0 0
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		5 11 1 3.8E-02 2 1.4E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.3E-02 0 0
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		7 17 3 0.12 4 2.7E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 3 5.4E-02 1 5.5E-03
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		13 118 6 0.21 65 0.35
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 5 0.11 5 5.4E-03
CUI: C0007097
Disease: Carcinoma
Carcinoma 		1 15 1 4.5E-02 2 1.4E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 0 2 5.7E-02 0 0
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		16 96 7 0.23 45 0.24
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		13 82 8 0.30 12 5.9E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		12 66 4 0.13 28 0.16