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: C0391970
Disease: Carcinoid tumor, malignant
Carcinoid tumor, malignant 		0 2 0 0 2 0.20
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 1 2.0E-03 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 1 2.1E-03 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 1 2.1E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 2.1E-03 0 0
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		168 0 1 2.1E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 2.2E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 1 2.3E-03 0 0
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 0 1 2.3E-03 0 0
CUI: C0005938
Disease: Bone Density
Bone Density 		138 0 1 2.3E-03 0 0
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		138 0 1 2.3E-03 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 1 2.3E-03 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 1 2.3E-03 0 0
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		134 0 1 2.3E-03 0 0
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		131 0 1 2.3E-03 0 0
CUI: C0021359
Disease: Infertility
Infertility 		130 0 1 2.3E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 2.3E-03 0 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		128 0 1 2.3E-03 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 1 2.4E-03 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 1 2.4E-03 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 1 2.4E-03 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 1 2.4E-03 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 1 2.4E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 2.4E-03 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 1 2.5E-03 0 0