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 2.3E-02
CUI: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 2.8E-02
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		0 31 0 0 3 4.7E-02
CUI: C2930987
Disease: Paranasal sinus teratocarcinosarcoma (type)
Paranasal sinus teratocarcinosarcoma (type) 		0 1 0 0 1 2.8E-02
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia 		0 1 0 0 1 2.8E-02
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 2.8E-02
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		135 0 1 2.1E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 2.1E-03 0 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 0 1 2.2E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 2.2E-03 0 0
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		109 0 1 2.2E-03 0 0
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		102 0 1 2.3E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 2.3E-03 0 0
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		96 0 1 2.3E-03 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 1 2.3E-03 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 1 2.4E-03 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		85 0 1 2.4E-03 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 2.4E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 2.4E-03 0 0
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		80 0 1 2.4E-03 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 0 1 2.4E-03 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 1 2.4E-03 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 1 2.4E-03 0 0
CUI: C0202202
Disease: Protein measurement
Protein measurement 		75 0 1 2.4E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 2.4E-03 0 0