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: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 1 9.1E-04 0 0
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		45 0 1 9.1E-04 0 0
CUI: C0263490
Disease: Brittle hair
Brittle hair 		45 0 1 9.1E-04 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 1 9.1E-04 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 1 9.1E-04 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 1 9.1E-04 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 1 9.1E-04 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 1 9.1E-04 0 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		41 0 1 9.1E-04 0 0
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		41 0 1 9.1E-04 0 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		41 0 1 9.1E-04 0 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		41 0 1 9.1E-04 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 1 9.1E-04 0 0
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		41 0 1 9.1E-04 0 0
CUI: C0003126
Disease: Anosmia
Anosmia 		40 0 1 9.1E-04 0 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 1 9.1E-04 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 1 9.1E-04 0 0
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		39 0 1 9.1E-04 0 0
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		39 0 1 9.1E-04 0 0
CUI: C0085615
Disease: Right bundle branch block
Right bundle branch block 		39 0 1 9.1E-04 0 0
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		39 0 1 9.1E-04 0 0
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		39 0 1 9.1E-04 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 0 1 9.1E-04 0 0
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		37 0 1 9.1E-04 0 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		37 0 1 9.1E-04 0 0