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: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0 9 0 0 1 6.7E-02
CUI: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 0.14
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia 		0 1 0 0 1 0.14
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 0.14
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		0 3 0 0 1 0.11
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 2.2E-03 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 0 1 2.2E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 2.3E-03 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 1 2.3E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 2.3E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 2.4E-03 0 0
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		147 0 1 2.5E-03 0 0
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		147 0 1 2.5E-03 0 0
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		147 0 1 2.5E-03 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 1 2.5E-03 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 1 2.5E-03 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 1 2.5E-03 0 0
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		134 0 1 2.5E-03 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 0 1 2.6E-03 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 1 2.6E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 2.6E-03 0 0
CUI: C0030232
Disease: Pallor
Pallor 		124 0 1 2.6E-03 0 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		123 0 1 2.6E-03 0 0
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		114 0 1 2.7E-03 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 1 2.7E-03 0 0