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: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.3E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 2.8E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 1 3 4.7E-02 1 0.33
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 1.6E-02 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 1 2.9E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.1E-03 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 1.2E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 1 1.6E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 2 2.2E-03 0 0
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure 		7 0 1 3.6E-02 0 0
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding 		9 0 2 6.9E-02 0 0
CUI: C4023026
Disease: Abnormal megakaryocyte morphology
Abnormal megakaryocyte morphology 		10 0 1 3.2E-02 0 0
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology 		10 0 1 3.2E-02 0 0
CUI: C4025731
Disease: Abnormal thrombosis
Abnormal thrombosis 		13 0 1 2.9E-02 0 0
CUI: C4023047
Disease: Abnormality of endocrine pancreas physiology
Abnormality of endocrine pancreas physiology 		4 0 1 4.0E-02 0 0
CUI: C4023583
Disease: Abnormality of iron homeostasis
Abnormality of iron homeostasis 		5 0 1 3.8E-02 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 4 2.1E-02 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		31 0 1 1.9E-02 0 0
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system 		34 0 1 1.8E-02 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		148 0 2 1.2E-02 0 0
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		109 0 3 2.3E-02 0 0
CUI: C4023619
Disease: Absence of Lutheran antigen on erythrocytes
Absence of Lutheran antigen on erythrocytes 		1 0 1 4.5E-02 0 0
CUI: C0278134
Disease: Absence of sensation
Absence of sensation 		111 0 1 7.6E-03 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 4.5E-03 0 0
CUI: C0406352
Disease: Acanthosis palmaris
Acanthosis palmaris 		4 0 1 4.0E-02 0 0