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: C0154038
Disease: Benign neoplasm of thyroid gland
Benign neoplasm of thyroid gland 		0 4 0 0 1 4.4E-03
CUI: C0730278
Disease: Severe nonproliferative diabetic retinopathy
Severe nonproliferative diabetic retinopathy 		0 3 0 0 1 4.4E-03
CUI: C0854076
Disease: Distal ileal obstruction syndrome
Distal ileal obstruction syndrome 		0 2 0 0 2 8.9E-03
CUI: C1262483
Disease: Hereditary stomatocytosis
Hereditary stomatocytosis 		0 2 0 0 1 4.4E-03
CUI: C1834750
Disease: CORONARY ARTERY DISEASE, MODIFIER OF
CORONARY ARTERY DISEASE, MODIFIER OF 		0 1 0 0 1 4.5E-03
CUI: C1834751
Disease: CORONARY ARTERY DISEASE, DEVELOPMENT OF, IN HIV
CORONARY ARTERY DISEASE, DEVELOPMENT OF, IN HIV 		0 1 0 0 1 4.5E-03
CUI: C4016263
Disease: SPINA BIFIDA, SUSCEPTIBILITY TO
SPINA BIFIDA, SUSCEPTIBILITY TO 		0 1 0 0 1 4.5E-03
CUI: C4317046
Disease: Hematological abnormality
Hematological abnormality 		0 4 0 0 1 4.4E-03
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 1.3E-03 0 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 0 1 1.3E-03 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 1 1.3E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.4E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 1.4E-03 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 1 1.4E-03 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 1 1.4E-03 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 0 1 1.4E-03 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 0 1 1.4E-03 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 1 1.4E-03 0 0
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		62 522 1 1.4E-03 2 2.7E-03
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		62 522 1 1.4E-03 2 2.7E-03
CUI: C4082304
Disease: Oligodontia
Oligodontia 		62 0 1 1.4E-03 0 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		60 0 1 1.4E-03 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 1 1.4E-03 0 0
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 0 1 1.4E-03 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 1 1.4E-03 0 0