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: C1849227
Disease: Cleft of chin
Cleft of chin 		2 0 2 0.67 0 0
CUI: C1863382
Disease: Absent first metatarsal
Absent first metatarsal 		2 0 2 0.67 0 0
CUI: C1863389
Disease: Apert-Crouzon Disease
Apert-Crouzon Disease 		2 0 2 0.67 0 0
CUI: C4021360
Disease: Partial duplication of the distal phalanx of the 3rd finger
Partial duplication of the distal phalanx of the 3rd finger 		2 0 2 0.67 0 0
CUI: C4021365
Disease: Partial duplication of the distal phalanx of the 2nd finger
Partial duplication of the distal phalanx of the 2nd finger 		2 0 2 0.67 0 0
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix 		3 0 2 0.50 0 0
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 36 3 0.38 1 2.8E-02
CUI: C0424690
Disease: Asymmetrical skull
Asymmetrical skull 		5 0 2 0.33 0 0
CUI: C0432238
Disease: Bent bone dysplasia
Bent bone dysplasia 		1 0 1 0.33 0 0
CUI: C0685678
Disease: Incomplete ossification of pubis
Incomplete ossification of pubis 		1 0 1 0.33 0 0
CUI: C1516419
Disease: Cervical Mesonephric Adenocarcinoma
Cervical Mesonephric Adenocarcinoma 		1 0 1 0.33 0 0
CUI: C1516974
Disease: Estrogen Receptor Status - Clinical Trial Eligibility Criteria
Estrogen Receptor Status - Clinical Trial Eligibility Criteria 		1 0 1 0.33 0 0
CUI: C1517658
Disease: Cervical Keratinizing Squamous Cell Carcinoma
Cervical Keratinizing Squamous Cell Carcinoma 		1 0 1 0.33 0 0
CUI: C1852407
Disease: Prominent scrotal raphe
Prominent scrotal raphe 		1 0 1 0.33 0 0
CUI: C1852411
Disease: Preauricular skin furrow
Preauricular skin furrow 		1 0 1 0.33 0 0
CUI: C1863370
Disease: Saethre-Chotzen Syndrome with Eyelid Anomalies
Saethre-Chotzen Syndrome with Eyelid Anomalies 		1 0 1 0.33 0 0
CUI: C1863392
Disease: Abnormal morphology of the limbic system
Abnormal morphology of the limbic system 		1 0 1 0.33 0 0
CUI: C1863395
Disease: Acrobrachycephaly
Acrobrachycephaly 		1 0 1 0.33 0 0
CUI: C1863403
Disease: Broad distal hallux
Broad distal hallux 		1 0 1 0.33 0 0
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		1 9 1 0.33 1 0.11
CUI: C1867146
Disease: Robinow Sorauf syndrome
Robinow Sorauf syndrome 		1 0 1 0.33 0 0
CUI: C1867563
Disease: CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT 		1 0 1 0.33 0 0
CUI: C1867564
Disease: SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY 		1 0 1 0.33 0 0
CUI: C2126063
Disease: Exophthalmos, bilateral
Exophthalmos, bilateral 		1 0 1 0.33 0 0
CUI: C2676443
Disease: Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis 		5 0 2 0.33 0 0