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: C1837819
Disease: Cerebrofrontofacial Syndrome
Cerebrofrontofacial Syndrome 		2 0 2 0.33 0 0
CUI: C1853623
Disease: Fryns-Aftimos Syndrome
Fryns-Aftimos Syndrome 		3 0 2 0.29 0 0
CUI: C2931760
Disease: Acrocallosal syndrome, Schinzel type
Acrocallosal syndrome, Schinzel type 		3 0 2 0.29 0 0
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		4 0 2 0.25 0 0
CUI: C4022153
Disease: Cerebral cortical hemiatrophy
Cerebral cortical hemiatrophy 		6 0 2 0.20 0 0
CUI: C0003516
Disease: Aortopulmonary Septal Defect
Aortopulmonary Septal Defect 		1 0 1 0.17 0 0
CUI: C0240583
Disease: Short upturned nose
Short upturned nose 		1 0 1 0.17 0 0
CUI: C0263579
Disease: Pigmented hairy epidermal nevus
Pigmented hairy epidermal nevus 		1 0 1 0.17 0 0
CUI: C0265878
Disease: Preductal coarctation of aorta
Preductal coarctation of aorta 		1 0 1 0.17 0 0
CUI: C0268875
Disease: Urethrorectal fistula
Urethrorectal fistula 		1 0 1 0.17 0 0
CUI: C1841686
Disease: Absent hallux
Absent hallux 		1 0 1 0.17 0 0
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		1 0 1 0.17 0 0
CUI: C1846722
Disease: Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 		1 0 1 0.17 0 0
CUI: C1855003
Disease: Bilateral postaxial polydactyly
Bilateral postaxial polydactyly 		1 0 1 0.17 0 0
CUI: C1858042
Disease: Becker Nevus Syndrome
Becker Nevus Syndrome 		1 0 1 0.17 0 0
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		1 0 1 0.17 0 0
CUI: C1860165
Disease: Pulmonary valve defects
Pulmonary valve defects 		1 0 1 0.17 0 0
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		1 0 1 0.17 0 0
CUI: C1968943
Disease: Rudimentary to absent tibiae
Rudimentary to absent tibiae 		1 0 1 0.17 0 0
CUI: C1970280
Disease: Hearing loss begins with loss of high frequencies
Hearing loss begins with loss of high frequencies 		1 0 1 0.17 0 0
CUI: C1970281
Disease: Audiogram shows sloping configuration
Audiogram shows sloping configuration 		1 0 1 0.17 0 0
CUI: C1970282
Disease: Deafness, profound, by 6th decade
Deafness, profound, by 6th decade 		1 0 1 0.17 0 0
CUI: C3277723
Disease: JOUBERT SYNDROME 12
JOUBERT SYNDROME 12 		1 0 1 0.17 0 0
CUI: C3279369
Disease: Microphthalmia (in some patients)
Microphthalmia (in some patients) 		1 0 1 0.17 0 0
CUI: C3279899
Disease: Hydrolethalus Syndrome 2
Hydrolethalus Syndrome 2 		1 0 1 0.17 0 0