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: C2676443
Disease: Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis 		5 0 3 0.14 0 0
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		14 29 4 0.13 11 0.26
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal 		14 0 4 0.13 0 0
CUI: C0332877
Disease: Congenital premature fusion
Congenital premature fusion 		6 1 3 0.13 1 4.2E-02
CUI: C1275277
Disease: Soft tissue chondroma
Soft tissue chondroma 		6 0 3 0.13 0 0
CUI: C1846474
Disease: Small thenar eminence
Small thenar eminence 		6 0 3 0.13 0 0
CUI: C1867060
Disease: Lacrimal Puncta, Absence of
Lacrimal Puncta, Absence of 		6 0 3 0.13 0 0
CUI: C0263661
Disease: Disorder of skeletal system
Disorder of skeletal system 		25 0 5 0.12 0 0
CUI: C1856912
Disease: Shortening of all middle phalanges of the fingers
Shortening of all middle phalanges of the fingers 		7 0 3 0.12 0 0
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		35 0 6 0.12 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		17 0 4 0.12 0 0
CUI: C0010930
Disease: Dacryocystitis
Dacryocystitis 		8 0 3 0.12 0 0
CUI: C1335965
Disease: Signet-ring cell adenocarcinoma gastric
Signet-ring cell adenocarcinoma gastric 		8 0 3 0.12 0 0
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		28 0 5 0.12 0 0
CUI: C0432055
Disease: Simple syndactyly of fingers - first web
Simple syndactyly of fingers - first web 		9 0 3 0.12 0 0
CUI: C0264353
Disease: Bronchomalacia
Bronchomalacia 		10 0 3 0.11 0 0
CUI: C1856136
Disease: Conical incisor
Conical incisor 		10 0 3 0.11 0 0
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		20 3 4 0.11 2 8.0E-02
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		11 17 3 0.11 1 2.5E-02
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		12 0 3 0.10 0 0
CUI: C4082168
Disease: Partial duplication of thumb phalanx
Partial duplication of thumb phalanx 		12 0 3 0.10 0 0
CUI: C0432066
Disease: Congenital malformation syndromes affecting facial appearance
Congenital malformation syndromes affecting facial appearance 		2 0 2 1.0E-01 0 0
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		35 13 5 1.0E-01 4 0.12
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		2 0 2 1.0E-01 0 0
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic 		2 0 2 1.0E-01 0 0