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: C4053775
Disease: Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome 		16 0 4 8.5E-02 0 0
CUI: C0265242
Disease: Otocephaly
Otocephaly 		4 0 3 8.3E-02 0 0
CUI: C3711749
Disease: Nonsyndromic Holoprosencephaly
Nonsyndromic Holoprosencephaly 		4 0 3 8.3E-02 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 20 7.9E-02 0 0
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma 		6 0 3 7.9E-02 0 0
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 0 4 7.8E-02 0 0
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		35 0 5 7.7E-02 0 0
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		7 0 3 7.7E-02 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 0 16 7.6E-02 0 0
CUI: C4021249
Disease: Anterior pituitary agenesis
Anterior pituitary agenesis 		8 0 3 7.5E-02 0 0
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		55 0 6 7.1E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 19 6.8E-02 0 0
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome 		13 0 3 6.7E-02 0 0
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		13 0 3 6.7E-02 0 0
CUI: C0035411
Disease: Rhabdomyoma
Rhabdomyoma 		16 0 3 6.2E-02 0 0
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		16 0 3 6.2E-02 0 0
CUI: C0018916
Disease: Hemangioma
Hemangioma 		256 0 17 6.2E-02 0 0
CUI: C0037293
Disease: Skin tag
Skin tag 		17 0 3 6.1E-02 0 0
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		52 0 5 6.1E-02 0 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		18 0 3 6.0E-02 0 0
CUI: C4025669
Disease: Decreased circulating ACTH level
Decreased circulating ACTH level 		18 0 3 6.0E-02 0 0
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma 		54 0 5 6.0E-02 0 0
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		74 0 6 5.8E-02 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		274 0 17 5.8E-02 0 0
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		39 0 4 5.7E-02 0 0