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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 635 147 0.15 4 5.8E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 127 0.15 4 4.5E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 123 0.14 2 1.9E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 121 0.14 5 3.4E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 144 0.14 2 1.9E-02
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 121 0.14 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 131 0.14 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 100 0.14 2 2.4E-02
CUI: C0086543
Disease: Cataract
Cataract 		878 0 179 0.14 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 124 0.14 2 3.0E-03
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 121 0.13 2 2.3E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 104 0.13 6 6.7E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 118 0.13 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 120 0.13 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 12 104 0.13 2 3.0E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 101 0.13 2 2.2E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 122 0.13 1 1.1E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 99 0.13 4 4.5E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 120 0.13 1 8.3E-03
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 12 93 0.13 1 1.5E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 118 0.13 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 100 0.13 6 7.5E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 98 0.12 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 179 0.12 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 83 0.12 0 0