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: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0 9 0 0 1 8.3E-02
CUI: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 0.25
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0 21 0 0 1 4.2E-02
CUI: C3160845
Disease: PAI-1 4G/5G polymorphism
PAI-1 4G/5G polymorphism 		0 3 0 0 1 0.17
CUI: C3266076
Disease: Orofacial cleft
Orofacial cleft 		0 2 0 0 1 0.20
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia 		0 1 0 0 1 0.25
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0 10 0 0 1 7.7E-02
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 0.25
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		0 3 0 0 2 0.40
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		401 0 1 1.8E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 1.9E-03 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 1 2.6E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 2.6E-03 0 0
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		223 0 1 2.6E-03 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 1 2.7E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 2 2.7E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 2.8E-03 0 0
CUI: C0040420
Disease: Tonometry
Tonometry 		206 0 1 2.8E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 2.8E-03 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 1 2.8E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 2.9E-03 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 1 2.9E-03 0 0
CUI: C1836047
Disease: Long face
Long face 		182 0 1 3.0E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 3.0E-03 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 1 3.1E-03 0 0