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: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 1.1E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 0 1 1.0E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 16 5.2E-02 1 1.7E-03
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		2 0 1 1.1E-02 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1 0 1 1.1E-02 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		9 0 1 1.0E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 18 3 3.1E-02 2 7.3E-03
CUI: C0002170
Disease: Alopecia
Alopecia 		5 5 1 1.1E-02 1 3.8E-03
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 0 2 1.9E-02 0 0
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		2 2 1 1.1E-02 1 3.9E-03
CUI: C0003126
Disease: Anosmia
Anosmia 		4 0 2 2.2E-02 0 0
CUI: C0003467
Disease: Anxiety
Anxiety 		13 20 2 2.0E-02 1 3.6E-03
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		3 0 2 2.2E-02 0 0
CUI: C0003578
Disease: Apnea
Apnea 		7 0 1 1.1E-02 0 0
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		5 0 1 1.1E-02 0 0
CUI: C0003862
Disease: Arthralgia
Arthralgia 		12 0 1 1.0E-02 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 0 3 3.0E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 5 3.6E-02 2 6.2E-03
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		3 0 1 1.1E-02 0 0
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		7 0 1 1.1E-02 0 0
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		7 9 2 2.2E-02 2 7.6E-03
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		8 15 2 2.1E-02 1 3.7E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 3 2.5E-02 1 3.3E-03
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		3 3 1 1.1E-02 1 3.9E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 2 1.8E-02 1 9.5E-04