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: C0086437
Disease: Joint laxity
Joint laxity 		224 0 1 3.5E-03 0 0
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		507 0 2 3.5E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 3.5E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 7 3.6E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 3.6E-03 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 1 3.6E-03 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 0 1 3.7E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 3.7E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 2 3.7E-03 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 1 3.8E-03 0 0
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		717 0 3 3.9E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 1 4.0E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 4.0E-03 0 0
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		681 0 3 4.0E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 4.1E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 2 4.1E-03 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 1 4.2E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 4.2E-03 0 0
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		173 0 1 4.2E-03 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 1 4.3E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 1 4.3E-03 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 0 1 4.3E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 1 4.3E-03 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 1 4.3E-03 0 0
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		168 0 1 4.3E-03 0 0