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: C0003635
Disease: Apraxias
Apraxias 		71 9 1 1.4E-02 1 0.11
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.2E-03 0 0
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		267 0 1 3.7E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 1 5.3E-04 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 1 3.5E-03 1 2.3E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 1 7.9E-04 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 1 4.4E-03 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 1 9.6E-04 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 1 3.7E-03 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 1 1.3E-03 0 0
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		127 0 1 7.9E-03 0 0
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		489 0 1 2.0E-03 0 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		142 0 1 7.0E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 1 9.4E-04 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 1 1.7E-03 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 0 1 5.1E-03 0 0
CUI: C0027947
Disease: Neutropenia
Neutropenia 		389 0 1 2.6E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 1 6.0E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 1 1.2E-03 0 0
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		471 0 1 2.1E-03 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 1 1.8E-03 0 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		592 0 1 1.7E-03 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 1 1.1E-03 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 1 5.2E-03 1 2.0E-02
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		55 0 1 1.8E-02 0 0