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: C4021627
Disease: Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs 		3 0 2 0.22 0 0
CUI: C4024215
Disease: Aplasia of the parotid gland
Aplasia of the parotid gland 		3 0 2 0.22 0 0
CUI: C4024822
Disease: Lacrimal gland aplasia
Lacrimal gland aplasia 		3 0 2 0.22 0 0
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		15 52 4 0.21 21 0.31
CUI: C0206504
Disease: Tympanic Membrane Perforation
Tympanic Membrane Perforation 		4 0 2 0.20 0 0
CUI: C0546297
Disease: Hallux Varus
Hallux Varus 		4 0 2 0.20 0 0
CUI: C1394030
Disease: Coronal hypospadias
Coronal hypospadias 		4 0 2 0.20 0 0
CUI: C1519172
Disease: Salivary Gland Carcinoma ex Pleomorphic Adenoma
Salivary Gland Carcinoma ex Pleomorphic Adenoma 		4 0 2 0.20 0 0
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct 		4 0 2 0.20 0 0
CUI: C1968574
Disease: Hypoplastic lacrimal duct
Hypoplastic lacrimal duct 		4 0 2 0.20 0 0
CUI: C4024345
Disease: Radial deviation of the 3rd finger
Radial deviation of the 3rd finger 		4 0 2 0.20 0 0
CUI: C4324434
Disease: Panniculus
Panniculus 		4 0 2 0.20 0 0
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		11 17 3 0.19 1 1.9E-02
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		5 33 2 0.18 9 0.15
CUI: C0266184
Disease: Congenital duodenal obstruction due to malrotation of intestine
Congenital duodenal obstruction due to malrotation of intestine 		5 0 2 0.18 0 0
CUI: C0424690
Disease: Asymmetrical skull
Asymmetrical skull 		5 0 2 0.18 0 0
CUI: C0846967
Disease: Acanthoma
Acanthoma 		5 0 2 0.18 0 0
CUI: C4023418
Disease: Unicoronal synostosis
Unicoronal synostosis 		5 1 2 0.18 1 2.8E-02
CUI: C4087491
Disease: End stage COPD
End stage COPD 		5 0 2 0.18 0 0
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		25 7 5 0.18 2 4.9E-02
CUI: C1275277
Disease: Soft tissue chondroma
Soft tissue chondroma 		6 0 2 0.17 0 0
CUI: C1846474
Disease: Small thenar eminence
Small thenar eminence 		6 0 2 0.17 0 0
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		20 3 4 0.17 1 2.6E-02
CUI: C1867060
Disease: Lacrimal Puncta, Absence of
Lacrimal Puncta, Absence of 		6 0 2 0.17 0 0
CUI: C2930927
Disease: Kallmann syndrome, type 3, recessive
Kallmann syndrome, type 3, recessive 		6 0 2 0.17 0 0