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: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		15 52 13 0.81 29 0.56
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		3 20 3 0.21 11 0.29
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 24 4 0.13 11 0.26
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 36 4 0.22 13 0.25
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		2 16 2 0.14 6 0.15
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		35 4 1 2.1E-02 4 0.14
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		9 13 1 4.5E-02 5 0.14
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		1 9 1 7.1E-02 4 0.12
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 3 0.21 4 0.11
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		30 33 3 7.3E-02 6 0.11
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 6 1.2E-02 10 9.2E-02
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		43 8 2 3.6E-02 3 8.8E-02
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		3 10 2 0.13 3 8.3E-02
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		35 13 2 4.3E-02 3 7.7E-02
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		5 33 2 0.12 4 6.9E-02
CUI: C2930865
Disease: Ramer Ladda syndrome
Ramer Ladda syndrome 		10 2 2 9.1E-02 2 6.9E-02
CUI: C0263641
Disease: Epithelial hyperplasia of skin
Epithelial hyperplasia of skin 		79 4 2 2.2E-02 2 6.5E-02
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		25 7 3 8.3E-02 2 5.9E-02
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		1 8 1 7.1E-02 2 5.7E-02
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		4 11 1 5.9E-02 2 5.3E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 12 4 6.5E-03 2 5.1E-02
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		820 55 5 6.0E-03 4 5.0E-02
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 13 2 1.7E-02 2 5.0E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 21 5 9.1E-02 2 4.2E-02
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 26 4 2.9E-02 2 3.8E-02