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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 8.3E-03 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 2.2E-02 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 1 2.4E-02 2 0.12
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		16 0 1 1.9E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 7.2E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 5 1.5E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 2 2.0E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 3 3.2E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 9.0E-03 0 0
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure 		7 0 3 7.3E-02 0 0
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding 		9 0 6 0.15 0 0
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		19 0 1 1.8E-02 0 0
CUI: C4023026
Disease: Abnormal megakaryocyte morphology
Abnormal megakaryocyte morphology 		10 0 1 2.2E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 1 1.1E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 1 1.8E-02 0 0
CUI: C4023047
Disease: Abnormality of endocrine pancreas physiology
Abnormality of endocrine pancreas physiology 		4 0 1 2.5E-02 0 0
CUI: C4023583
Disease: Abnormality of iron homeostasis
Abnormality of iron homeostasis 		5 0 1 2.4E-02 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 4 2.0E-02 0 0
CUI: C4023024
Disease: Abnormality of multiple cell lineages in the bone marrow
Abnormality of multiple cell lineages in the bone marrow 		2 0 1 2.6E-02 0 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		34 0 1 1.4E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 4.0E-03 0 0
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		17 0 2 3.8E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 1 5.7E-03 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		56 0 1 1.1E-02 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		31 0 1 1.5E-02 0 0