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: C3683846
Disease: Chromosome 17p Deletion Syndrome
Chromosome 17p Deletion Syndrome 		2 0 1 0.20 0 0
CUI: C3874334
Disease: Severe hearing loss
Severe hearing loss 		2 0 1 0.20 0 0
CUI: C0220730
Disease: Fryns syndrome
Fryns syndrome 		3 0 1 0.17 0 0
CUI: C0740409
Disease: Psychotic behaviour
Psychotic behaviour 		3 0 1 0.17 0 0
CUI: C0795822
Disease: Recombinant chromosome 8 syndrome
Recombinant chromosome 8 syndrome 		3 0 1 0.17 0 0
CUI: C0795855
Disease: Ring chromosome 15 syndrome
Ring chromosome 15 syndrome 		3 0 1 0.17 0 0
CUI: C0854893
Disease: Angiosarcoma non-metastatic
Angiosarcoma non-metastatic 		3 0 1 0.17 0 0
CUI: C1395317
Disease: Dextrocardia with situs inversus
Dextrocardia with situs inversus 		3 0 1 0.17 0 0
CUI: C1853482
Disease: Pear-shaped nose
Pear-shaped nose 		3 0 1 0.17 0 0
CUI: C1876185
Disease: Dysgnathia complex
Dysgnathia complex 		3 0 1 0.17 0 0
CUI: C4025161
Disease: Positional foot deformity
Positional foot deformity 		3 0 1 0.17 0 0
CUI: C4266451
Disease: Fetal abnormality
Fetal abnormality 		3 0 1 0.17 0 0
CUI: C0221215
Disease: Common atrioventricular canal
Common atrioventricular canal 		4 0 1 0.14 0 0
CUI: C0265242
Disease: Otocephaly
Otocephaly 		4 0 1 0.14 0 0
CUI: C0265428
Disease: Chromosome 9, partial trisomy 9p
Chromosome 9, partial trisomy 9p 		4 0 1 0.14 0 0
CUI: C0796032
Disease: Malpuech facial clefting syndrome
Malpuech facial clefting syndrome 		4 0 1 0.14 0 0
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		4 0 1 0.14 0 0
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		4 0 1 0.14 0 0
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		4 0 1 0.14 0 0
CUI: C1864652
Disease: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		4 0 1 0.14 0 0
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		4 0 1 0.14 0 0
CUI: C4020963
Disease: Absent nares
Absent nares 		4 0 1 0.14 0 0
CUI: C4021029
Disease: Conspicuously happy disposition
Conspicuously happy disposition 		4 0 1 0.14 0 0
CUI: C0685775
Disease: Congenital absence of jaw
Congenital absence of jaw 		5 0 1 0.12 0 0
CUI: C0795816
Disease: Chromosome 6, monosomy 6q
Chromosome 6, monosomy 6q 		5 0 1 0.12 0 0