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: C1511306
Disease: Breast Diffuse Large B-Cell Lymphoma
Breast Diffuse Large B-Cell Lymphoma 		0 1 0 0 1 2.1E-02
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 1 1.5E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 1.5E-03 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 1 1.6E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 1 1.6E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 1.6E-03 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 1 1.6E-03 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 1 1.6E-03 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 1 1.7E-03 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 1 1.7E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 1.7E-03 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 1 1.7E-03 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 1 1.7E-03 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 1.7E-03 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 0 1 1.7E-03 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		109 0 1 1.7E-03 0 0
CUI: C0575802
Disease: Small hand
Small hand 		108 0 1 1.7E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 1.7E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 1.7E-03 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 0 1 1.7E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 1.7E-03 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 1 1.7E-03 0 0
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		96 0 1 1.7E-03 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 1 1.7E-03 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 1 1.7E-03 0 0