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: C0272275
Disease: Heparin-induced thrombocytopenia with thrombosis
Heparin-induced thrombocytopenia with thrombosis 		0 1 0 0 1 4.2E-02
CUI: C0752138
Disease: Intracranial Arterial Diseases
Intracranial Arterial Diseases 		0 1 0 0 1 4.2E-02
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 1 1.2E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.2E-03 0 0
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		68 0 1 1.2E-03 0 0
CUI: C0562350
Disease: Hip circumference
Hip circumference 		68 0 1 1.2E-03 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 1 1.2E-03 0 0
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		62 0 1 1.2E-03 0 0
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		62 0 1 1.2E-03 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 1 1.2E-03 0 0
CUI: C0005910
Disease: Body Weight
Body Weight 		57 0 1 1.2E-03 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 1 1.2E-03 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		56 0 1 1.2E-03 0 0
CUI: C1837352
Disease: Childhood onset
Childhood onset 		56 0 1 1.2E-03 0 0
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		55 0 1 1.2E-03 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 1 1.2E-03 0 0
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		53 0 1 1.2E-03 0 0
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		53 0 1 1.2E-03 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 1 1.2E-03 0 0
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		49 0 1 1.2E-03 0 0
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		49 19 1 1.2E-03 1 2.4E-02
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 1 1.2E-03 0 0
CUI: C0018520
Disease: Halitosis
Halitosis 		48 0 1 1.2E-03 0 0
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		45 0 1 1.2E-03 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 1.2E-03 0 0