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: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0 9 0 0 1 2.0E-02
CUI: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 2.4E-02
CUI: C0423461
Disease: Cilioretinal artery (disorder)
Cilioretinal artery (disorder) 		0 1 0 0 1 2.4E-02
CUI: C1511306
Disease: Breast Diffuse Large B-Cell Lymphoma
Breast Diffuse Large B-Cell Lymphoma 		0 1 0 0 1 2.4E-02
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia 		0 1 0 0 1 2.4E-02
CUI: C3540839
Disease: Neonatal Drug Withdrawal
Neonatal Drug Withdrawal 		0 3 0 0 1 2.3E-02
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0 10 0 0 1 2.0E-02
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 2.4E-02
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia 		0 9 0 0 1 2.0E-02
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		0 3 0 0 2 4.7E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 1.9E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 1 1.9E-03 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 2.0E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 2.0E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 2.0E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 2.1E-03 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 1 2.1E-03 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 1 2.2E-03 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 1 2.2E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 2.2E-03 0 0
CUI: C0020490
Disease: Hyperopia
Hyperopia 		142 0 1 2.2E-03 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 1 2.2E-03 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 1 2.2E-03 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 0 1 2.2E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 2.3E-03 0 0