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: C0432125
Disease: Bicoronal craniosynostosis
Bicoronal craniosynostosis 		1 0 1 0.33 0 0
CUI: C0432149
Disease: Lumbar hemivertebra
Lumbar hemivertebra 		1 0 1 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: C0846967
Disease: Acanthoma
Acanthoma 		5 0 2 0.33 0 0
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		1 4 1 0.33 1 7.1E-02
CUI: C1333286
Disease: Diencephalic Neoplasm
Diencephalic Neoplasm 		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: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		1 0 1 0.33 0 0
CUI: C1851152
Disease: SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS 		1 1 1 0.33 1 9.1E-02
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: C1861213
Disease: Wide-cupped costochondral junctions
Wide-cupped costochondral junctions 		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: C1863423
Disease: Lumbar kyphosis in infancy
Lumbar kyphosis in infancy 		1 0 1 0.33 0 0
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		1 10 1 0.33 7 0.50
CUI: C1864854
Disease: Broad femoral metaphyses
Broad femoral metaphyses 		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 5.3E-02
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