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: C0272292
Disease: Acute idiopathic thrombocytopenic purpura
Acute idiopathic thrombocytopenic purpura 		0 1 0 0 1 1.6E-02
CUI: C0741585
Disease: BODY ACHE
BODY ACHE 		0 1 0 0 1 1.6E-02
CUI: C1333046
Disease: Myeloproliferative Neoplasm, Unclassifiable
Myeloproliferative Neoplasm, Unclassifiable 		0 3 0 0 2 3.1E-02
CUI: C4749271
Disease: Aleukemic mast cell leukemia
Aleukemic mast cell leukemia 		0 2 0 0 2 3.2E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 1.3E-03 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		109 0 1 1.4E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 1.4E-03 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 1 1.4E-03 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 1 1.4E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.4E-03 0 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 0 1 1.4E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 1.4E-03 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 1 1.4E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.4E-03 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 1 1.4E-03 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 0 1 1.4E-03 0 0
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		67 0 1 1.4E-03 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 1 1.4E-03 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 1 1.4E-03 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 1 1.4E-03 0 0
CUI: C0231687
Disease: Spastic gait
Spastic gait 		62 0 1 1.4E-03 0 0
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		62 0 1 1.4E-03 0 0
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		62 0 1 1.4E-03 0 0
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		60 0 1 1.4E-03 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 0 1 1.4E-03 0 0