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: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 2.0E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 2.4E-03 0 0
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		223 0 1 2.4E-03 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 1 2.4E-03 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 0 1 2.6E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 1 2.6E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 2.6E-03 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 1 2.8E-03 0 0
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		168 0 1 2.8E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 1 2.8E-03 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 1 2.8E-03 0 0
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		167 0 1 2.8E-03 0 0
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		155 0 1 2.9E-03 0 0
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		149 0 1 2.9E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 2.9E-03 0 0
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		147 0 1 2.9E-03 0 0
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		147 0 1 2.9E-03 0 0
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		147 0 1 2.9E-03 0 0
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		146 0 1 3.0E-03 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 1 3.0E-03 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 0 1 3.0E-03 0 0
CUI: C0005938
Disease: Bone Density
Bone Density 		138 0 1 3.0E-03 0 0
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		138 0 1 3.0E-03 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 1 3.0E-03 0 0
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		134 0 1 3.1E-03 0 0