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: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		272 0 1 2.3E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 2.5E-03 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 1 2.6E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 2.7E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 2.7E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 2.8E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 1 2.9E-03 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 1 2.9E-03 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 1 3.0E-03 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 1 3.0E-03 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 1 3.1E-03 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 1 3.1E-03 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 1 3.2E-03 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 1 3.2E-03 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		157 0 1 3.2E-03 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 1 3.2E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 3.3E-03 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		148 0 1 3.3E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 3.3E-03 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 1 3.3E-03 0 0
CUI: C0020490
Disease: Hyperopia
Hyperopia 		142 0 1 3.4E-03 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 1 3.4E-03 0 0
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		139 0 1 3.4E-03 0 0
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		139 0 1 3.4E-03 0 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		137 0 1 3.4E-03 0 0