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 8.3E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 3 0.23 1 5.9E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.1E-03 0 0
CUI: C0003862
Disease: Arthralgia
Arthralgia 		12 0 1 5.6E-02 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 0 1 4.8E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.7E-02 0 0
CUI: C0006325
Disease: Bruxism
Bruxism 		4 6 1 1.0E-01 1 8.3E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 2 4.1E-02 0 0
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 19 2 1.0E-01 1 4.0E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 2 4.4E-02 2 3.7E-02
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		12 0 1 5.6E-02 0 0
CUI: C0010520
Disease: Cyanosis
Cyanosis 		1 1 1 0.14 1 0.14
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 0 1 2.7E-02 0 0
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		6 0 1 8.3E-02 0 0
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		6 9 1 8.3E-02 1 6.7E-02
CUI: C0013132
Disease: Drooling
Drooling 		14 14 1 5.0E-02 1 5.0E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		11 13 2 0.12 1 5.3E-02
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 0 1 4.2E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		42 61 3 6.5E-02 1 1.5E-02
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		6 0 1 8.3E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 0 1 2.6E-02 0 0
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		8 0 1 7.1E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 2.6E-02 0 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		1 1 1 0.14 1 0.14
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 1 2.8E-02 1 2.3E-02