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: C0432238
Disease: Bent bone dysplasia
Bent bone dysplasia 		1 0 1 0.25 0 0
CUI: C0685678
Disease: Incomplete ossification of pubis
Incomplete ossification of pubis 		1 0 1 0.25 0 0
CUI: C0795927
Disease: Deafness, congenital onychodystrophy, recessive form
Deafness, congenital onychodystrophy, recessive form 		1 0 1 0.25 0 0
CUI: C1516419
Disease: Cervical Mesonephric Adenocarcinoma
Cervical Mesonephric Adenocarcinoma 		1 0 1 0.25 0 0
CUI: C1516974
Disease: Estrogen Receptor Status - Clinical Trial Eligibility Criteria
Estrogen Receptor Status - Clinical Trial Eligibility Criteria 		1 0 1 0.25 0 0
CUI: C1517658
Disease: Cervical Keratinizing Squamous Cell Carcinoma
Cervical Keratinizing Squamous Cell Carcinoma 		1 0 1 0.25 0 0
CUI: C1842531
Disease: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 		1 0 1 0.25 0 0
CUI: C1852407
Disease: Prominent scrotal raphe
Prominent scrotal raphe 		1 0 1 0.25 0 0
CUI: C1852411
Disease: Preauricular skin furrow
Preauricular skin furrow 		1 0 1 0.25 0 0
CUI: C1860042
Disease: Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome with Disordered Steroidogenesis 		6 0 2 0.25 0 0
CUI: C1863392
Disease: Abnormal morphology of the limbic system
Abnormal morphology of the limbic system 		1 0 1 0.25 0 0
CUI: C1863395
Disease: Acrobrachycephaly
Acrobrachycephaly 		1 0 1 0.25 0 0
CUI: C1863403
Disease: Broad distal hallux
Broad distal hallux 		1 0 1 0.25 0 0
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		1 9 1 0.25 2 0.11
CUI: C1867563
Disease: CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT 		1 0 1 0.25 0 0
CUI: C1867564
Disease: SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY 		1 0 1 0.25 0 0
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		1 0 1 0.25 0 0
CUI: C2126063
Disease: Exophthalmos, bilateral
Exophthalmos, bilateral 		1 0 1 0.25 0 0
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		1 0 1 0.25 0 0
CUI: C3267076
Disease: Familial scaphocephaly syndrome
Familial scaphocephaly syndrome 		1 0 1 0.25 0 0
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		1 0 1 0.25 0 0
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		1 39 1 0.25 1 2.0E-02
CUI: C3281153
Disease: EFAVIRENZ, POOR METABOLISM OF
EFAVIRENZ, POOR METABOLISM OF 		1 0 1 0.25 0 0
CUI: C3552414
Disease: Deviation of the thumb
Deviation of the thumb 		1 0 1 0.25 0 0
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		1 7 1 0.25 1 5.9E-02