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 2.0E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 2 3.9E-02 1 1.5E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 7 2.6E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 0 2 3.6E-02 0 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 22 1 1.7E-02 1 1.3E-02
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		2 2 1 2.2E-02 1 1.7E-02
CUI: C0003079
Disease: Anisocoria
Anisocoria 		4 5 2 4.3E-02 1 1.6E-02
CUI: C0003578
Disease: Apnea
Apnea 		7 0 2 4.1E-02 0 0
CUI: C0003635
Disease: Apraxias
Apraxias 		6 7 1 2.0E-02 1 1.6E-02
CUI: C0003862
Disease: Arthralgia
Arthralgia 		12 0 1 1.8E-02 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 0 1 1.7E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		14 17 5 9.4E-02 1 1.4E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		2 661 1 2.2E-02 1 1.4E-03
CUI: C0004158
Disease: Athetosis
Athetosis 		2 3 2 4.5E-02 1 1.7E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 3 3.2E-02 1 7.9E-03
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		7 0 1 2.0E-02 0 0
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		7 0 1 2.0E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 3 3.8E-02 2 1.9E-02
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		3 0 1 2.2E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 0 1 1.4E-02 0 0
CUI: C0006325
Disease: Bruxism
Bruxism 		4 0 1 2.1E-02 0 0
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		5 0 1 2.1E-02 0 0
CUI: C0007384
Disease: Cataplexy
Cataplexy 		3 3 1 2.2E-02 2 3.4E-02
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 19 4 7.3E-02 4 5.5E-02
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 0 1 1.5E-02 0 0