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: C0268275
Disease: Tay-Sachs Disease, AB Variant
Tay-Sachs Disease, AB Variant 		0 7 0 0 1 8.8E-03
CUI: C0272292
Disease: Acute idiopathic thrombocytopenic purpura
Acute idiopathic thrombocytopenic purpura 		0 1 0 0 1 9.3E-03
CUI: C0393761
Disease: Middle insomnia
Middle insomnia 		0 1 0 0 1 9.3E-03
CUI: C2720289
Disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY 		0 54 0 0 1 6.2E-03
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 8.3E-04 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 8.4E-04 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 1 8.6E-04 0 0
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		62 522 1 8.6E-04 2 3.2E-03
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		62 522 1 8.6E-04 2 3.2E-03
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 1 8.7E-04 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 1 8.7E-04 0 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		57 0 1 8.7E-04 0 0
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		55 0 1 8.7E-04 0 0
CUI: C0018520
Disease: Halitosis
Halitosis 		48 0 1 8.7E-04 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 1 8.7E-04 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 1 8.8E-04 0 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 1 8.8E-04 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 1 8.8E-04 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 1 8.8E-04 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 1 8.8E-04 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 1 8.8E-04 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 8.8E-04 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 1 8.8E-04 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 0 1 8.8E-04 0 0
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		38 0 1 8.8E-04 0 0