Source: ALL
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: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		1 0 1 1.0E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 4 2.2E-02 0 0
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		14 0 1 9.1E-03 0 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		5 0 2 2.0E-02 0 0
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		1 0 1 1.0E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 7.9E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 3 2.2E-02 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome 		1 0 1 1.0E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 6 2 1.0E-02 1 5.9E-02
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 18 19 5.0E-02 1 3.4E-02
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 1 9.5E-03 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		7 0 1 9.7E-03 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 2 1.3E-02 0 0
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		2 0 1 1.0E-02 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid 		8 0 2 1.9E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 1 9.3E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 15 1.5E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 5.8E-03 0 0
CUI: C4023161
Disease: Abnormal bone ossification
Abnormal bone ossification 		3 0 1 1.0E-02 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		2 1 2 2.1E-02 1 8.3E-02
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing 		5 2 1 9.9E-03 1 7.7E-02
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 8 6.6E-02 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology 		2 0 2 2.1E-02 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		12 0 1 9.3E-03 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 7.6E-03 0 0