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: C0085636
Disease: Photophobia
Photophobia 		227 0 1 3.2E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 1 3.2E-03 0 0
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		223 0 1 3.3E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 3.3E-03 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 1 3.3E-03 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 1 3.3E-03 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 1 3.4E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 3.4E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 1 3.4E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 2 3.5E-03 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 1 3.6E-03 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 1 3.7E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 1 3.7E-03 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 1 3.7E-03 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 1 3.8E-03 0 0
CUI: C1836047
Disease: Long face
Long face 		182 0 1 3.8E-03 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 1 3.8E-03 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 1 3.8E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 3.8E-03 0 0
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		173 0 1 3.9E-03 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 1 3.9E-03 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 0 1 4.0E-03 0 0
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		170 0 1 4.0E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 2 4.0E-03 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 1 4.0E-03 0 0