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: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		1 9 1 3.3E-02 8 0.24
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		3 10 1 3.1E-02 8 0.23
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		2 16 2 6.7E-02 9 0.23
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 24 4 8.7E-02 10 0.21
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		9 13 1 2.6E-02 8 0.21
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		3 20 2 6.5E-02 9 0.20
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		18 28 5 0.12 10 0.20
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 36 5 0.15 10 0.17
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		5 33 2 6.1E-02 9 0.16
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		15 52 3 7.1E-02 11 0.15
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		14 29 3 7.3E-02 6 0.11
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		820 55 14 1.7E-02 8 1.0E-01
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 13 6 4.5E-02 3 7.0E-02
CUI: C2930865
Disease: Ramer Ladda syndrome
Ramer Ladda syndrome 		10 2 2 5.3E-02 2 6.1E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 18 3.6E-02 6 5.1E-02
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		43 8 7 0.11 2 5.1E-02
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		4 11 1 3.0E-02 2 4.8E-02
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 3 1.0E-01 2 4.8E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 12 6 9.5E-03 2 4.7E-02
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		35 13 5 8.3E-02 2 4.5E-02
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		20 18 1 2.0E-02 2 4.1E-02
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 26 8 5.4E-02 2 3.5E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 6 9.7E-03 3 3.4E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia 		85 29 3 2.7E-02 2 3.3E-02
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		261 32 3 1.0E-02 2 3.2E-02