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: C1863363
Disease: Cartilaginous trachea
Cartilaginous trachea 		2 0 2 1.00 0 0
CUI: C2931888
Disease: Pfeiffer type acrocephalosyndactyly
Pfeiffer type acrocephalosyndactyly 		2 0 2 1.00 0 0
CUI: C4024730
Disease: Calcaneonavicular fusion
Calcaneonavicular fusion 		2 0 2 1.00 0 0
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		3 20 2 0.67 8 0.29
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 2 0.67 4 0.17
CUI: C0432149
Disease: Lumbar hemivertebra
Lumbar hemivertebra 		1 0 1 0.50 0 0
CUI: C0432238
Disease: Bent bone dysplasia
Bent bone dysplasia 		1 0 1 0.50 0 0
CUI: C0546297
Disease: Hallux Varus
Hallux Varus 		4 0 2 0.50 0 0
CUI: C0685678
Disease: Incomplete ossification of pubis
Incomplete ossification of pubis 		1 0 1 0.50 0 0
CUI: C1333286
Disease: Diencephalic Neoplasm
Diencephalic Neoplasm 		1 0 1 0.50 0 0
CUI: C1516419
Disease: Cervical Mesonephric Adenocarcinoma
Cervical Mesonephric Adenocarcinoma 		1 0 1 0.50 0 0
CUI: C1516974
Disease: Estrogen Receptor Status - Clinical Trial Eligibility Criteria
Estrogen Receptor Status - Clinical Trial Eligibility Criteria 		1 0 1 0.50 0 0
CUI: C1517658
Disease: Cervical Keratinizing Squamous Cell Carcinoma
Cervical Keratinizing Squamous Cell Carcinoma 		1 0 1 0.50 0 0
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		1 0 1 0.50 0 0
CUI: C1852407
Disease: Prominent scrotal raphe
Prominent scrotal raphe 		1 0 1 0.50 0 0
CUI: C1852411
Disease: Preauricular skin furrow
Preauricular skin furrow 		1 0 1 0.50 0 0
CUI: C1863392
Disease: Abnormal morphology of the limbic system
Abnormal morphology of the limbic system 		1 0 1 0.50 0 0
CUI: C1863395
Disease: Acrobrachycephaly
Acrobrachycephaly 		1 0 1 0.50 0 0
CUI: C1863403
Disease: Broad distal hallux
Broad distal hallux 		1 0 1 0.50 0 0
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		1 9 1 0.50 8 0.47
CUI: C1867563
Disease: CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT 		1 1 1 0.50 1 6.2E-02
CUI: C1867564
Disease: SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY 		1 1 1 0.50 1 6.2E-02
CUI: C2126063
Disease: Exophthalmos, bilateral
Exophthalmos, bilateral 		1 0 1 0.50 0 0
CUI: C3267076
Disease: Familial scaphocephaly syndrome
Familial scaphocephaly syndrome 		1 0 1 0.50 0 0
CUI: C3552414
Disease: Deviation of the thumb
Deviation of the thumb 		1 0 1 0.50 0 0