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: C0431124
Disease: Cellular Schwannoma
Cellular Schwannoma 		1 0 1 1.00 0 0
CUI: C4727892
Disease: Gatad2b associated neurodevelopmental disorder
Gatad2b associated neurodevelopmental disorder 		3 0 1 0.33 0 0
CUI: C0679401
Disease: Vascular rupture
Vascular rupture 		4 0 1 0.25 0 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		21 0 1 4.8E-02 0 0
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		29 0 1 3.4E-02 0 0
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		30 0 1 3.3E-02 0 0
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		30 0 1 3.3E-02 0 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		31 0 1 3.2E-02 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 1 2.9E-02 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 1 2.2E-02 0 0
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		52 0 1 1.9E-02 0 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		53 0 1 1.9E-02 0 0
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		57 0 1 1.8E-02 0 0
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		59 0 1 1.7E-02 0 0
CUI: C0278622
Disease: Adult Malignant Peripheral Nerve Sheath Tumor
Adult Malignant Peripheral Nerve Sheath Tumor 		62 0 1 1.6E-02 0 0
CUI: C0279987
Disease: Childhood Malignant Peripheral Nerve Sheath Tumor
Childhood Malignant Peripheral Nerve Sheath Tumor 		62 0 1 1.6E-02 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 1 1.1E-02 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 0 1 1.1E-02 0 0
CUI: C0751356
Disease: Idiopathic Inflammatory Myopathies
Idiopathic Inflammatory Myopathies 		106 0 1 9.4E-03 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 1 9.2E-03 0 0
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		115 0 1 8.7E-03 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		148 0 1 6.8E-03 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		148 0 1 6.8E-03 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		187 0 1 5.3E-03 0 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		188 0 1 5.3E-03 0 0