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: C4551852
Disease: Diaphyseal dysplasia
Diaphyseal dysplasia 		2 0 1 0.50 0 0
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		25 0 1 4.0E-02 0 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		27 0 1 3.7E-02 0 0
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		34 0 1 2.9E-02 0 0
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		61 0 1 1.6E-02 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		62 0 1 1.6E-02 0 0
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		72 0 1 1.4E-02 0 0
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		82 0 1 1.2E-02 0 0
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		102 0 1 9.8E-03 0 0
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		131 0 1 7.6E-03 0 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		149 0 1 6.7E-03 0 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		151 0 1 6.6E-03 0 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		155 0 1 6.5E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 5.7E-03 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 1 4.7E-03 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 1 4.5E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 4.4E-03 0 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		234 0 1 4.3E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 2.0E-03 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 1 1.9E-03 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 0 1 1.9E-03 0 0
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		565 0 1 1.8E-03 0 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		592 0 1 1.7E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 1 1.2E-03 0 0
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		870 0 1 1.1E-03 0 0