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: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 1 1.4E-03 0 0
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 1 1.4E-03 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 1 1.4E-03 0 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		69 0 1 1.4E-03 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 1 1.4E-03 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 1 1.4E-03 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 1 1.4E-03 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 1 1.4E-03 0 0
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		61 0 1 1.4E-03 0 0
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		61 0 1 1.4E-03 0 0
CUI: C0544755
Disease: Genu varum
Genu varum 		60 0 1 1.4E-03 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 0 1 1.4E-03 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 1 1.4E-03 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 0 1 1.4E-03 0 0
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		55 0 1 1.4E-03 0 0
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		55 0 1 1.4E-03 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 1 1.4E-03 0 0
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		54 0 1 1.4E-03 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 1 1.4E-03 0 0
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		53 0 1 1.4E-03 0 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		53 0 1 1.4E-03 0 0
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		52 0 1 1.4E-03 0 0
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		51 0 1 1.4E-03 0 0
CUI: C0426789
Disease: Short thorax
Short thorax 		51 0 1 1.4E-03 0 0
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		51 0 1 1.4E-03 0 0