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 2.7E-03
CUI: C0033923
Disease: Psychomotor Performance
Psychomotor Performance 		0 1 0 0 1 2.8E-03
CUI: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 2.8E-03
CUI: C0201950
Disease: Cholesterol measurement test
Cholesterol measurement test 		0 3 0 0 1 2.7E-03
CUI: C0268275
Disease: Tay-Sachs Disease, AB Variant
Tay-Sachs Disease, AB Variant 		0 7 0 0 1 2.7E-03
CUI: C0373601
Disease: Dihydrotestosterone Assay
Dihydrotestosterone Assay 		0 2 0 0 1 2.7E-03
CUI: C0730278
Disease: Severe nonproliferative diabetic retinopathy
Severe nonproliferative diabetic retinopathy 		0 3 0 0 1 2.7E-03
CUI: C1856170
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO
ALZHEIMER DISEASE, SUSCEPTIBILITY TO 		0 3 0 0 1 2.7E-03
CUI: C3540839
Disease: Neonatal Drug Withdrawal
Neonatal Drug Withdrawal 		0 3 0 0 1 2.7E-03
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 2.8E-03
CUI: C4016417
Disease: VASCULAR DEMENTIA, SUSCEPTIBILITY TO
VASCULAR DEMENTIA, SUSCEPTIBILITY TO 		0 1 0 0 1 2.8E-03
CUI: C4317046
Disease: Hematological abnormality
Hematological abnormality 		0 4 0 0 1 2.7E-03
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		0 3 0 0 2 5.5E-03
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 9.3E-04 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 9.4E-04 0 0
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		72 0 1 9.4E-04 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 9.5E-04 0 0
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		67 0 1 9.5E-04 0 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		60 0 1 9.6E-04 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 1 9.6E-04 0 0
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		59 0 1 9.6E-04 0 0
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		56 0 1 9.6E-04 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 1 9.7E-04 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		48 0 1 9.7E-04 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 1 9.7E-04 0 0