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 1.6E-02
CUI: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 1.8E-02
CUI: C1262483
Disease: Hereditary stomatocytosis
Hereditary stomatocytosis 		0 2 0 0 1 1.8E-02
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia 		0 1 0 0 1 1.8E-02
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 1.8E-02
CUI: C4698657
Disease: T-cell lymphoblastic leukemia/lymphoma
T-cell lymphoblastic leukemia/lymphoma 		0 1 0 0 1 1.8E-02
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		0 3 0 0 1 1.7E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 1.6E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 1.8E-03 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 1 1.9E-03 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 1 1.9E-03 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 1 1.9E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 1 1.9E-03 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 1 1.9E-03 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 1 1.9E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 2.0E-03 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 1 2.0E-03 0 0
CUI: C0030232
Disease: Pallor
Pallor 		124 0 1 2.0E-03 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 1 2.0E-03 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 1 2.0E-03 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 2.0E-03 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 1 2.1E-03 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 1 2.1E-03 0 0
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		103 0 1 2.1E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 2.1E-03 0 0