Source: INFERRED ×
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: C0001193
Disease: Apert syndrome
Apert syndrome 		1 14 1 1.00 9 0.50
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		1 0 1 1.00 0 0
CUI: C0685678
Disease: Incomplete ossification of pubis
Incomplete ossification of pubis 		1 0 1 1.00 0 0
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		1 1 1 1.00 1 7.7E-02
CUI: C1516974
Disease: Estrogen Receptor Status - Clinical Trial Eligibility Criteria
Estrogen Receptor Status - Clinical Trial Eligibility Criteria 		1 0 1 1.00 0 0
CUI: C1852407
Disease: Prominent scrotal raphe
Prominent scrotal raphe 		1 0 1 1.00 0 0
CUI: C1852411
Disease: Preauricular skin furrow
Preauricular skin furrow 		1 0 1 1.00 0 0
CUI: C1863392
Disease: Abnormal morphology of the limbic system
Abnormal morphology of the limbic system 		1 0 1 1.00 0 0
CUI: C1863395
Disease: Acrobrachycephaly
Acrobrachycephaly 		1 0 1 1.00 0 0
CUI: C1863403
Disease: Broad distal hallux
Broad distal hallux 		1 0 1 1.00 0 0
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		1 9 1 1.00 8 0.57
CUI: C1867563
Disease: CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT 		1 1 1 1.00 1 7.7E-02
CUI: C1867564
Disease: SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY 		1 1 1 1.00 1 7.7E-02
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		1 10 1 1.00 8 0.53
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		1 10 1 1.00 8 0.53
CUI: C3552414
Disease: Deviation of the thumb
Deviation of the thumb 		1 0 1 1.00 0 0
CUI: C4016344
Disease: PFEIFFER SYNDROME VARIANT
PFEIFFER SYNDROME VARIANT 		1 0 1 1.00 0 0
CUI: C4016345
Disease: PFEIFFER SYNDROME, TYPE III
PFEIFFER SYNDROME, TYPE III 		1 0 1 1.00 0 0
CUI: C4016346
Disease: CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL 		1 0 1 1.00 0 0
CUI: C4023454
Disease: Metopic depression
Metopic depression 		1 0 1 1.00 0 0
CUI: C4023628
Disease: Mild fetal ventriculomegaly
Mild fetal ventriculomegaly 		1 0 1 1.00 0 0
CUI: C4023749
Disease: Abnormality of the zygomatic bone
Abnormality of the zygomatic bone 		1 0 1 1.00 0 0
CUI: C4073134
Disease: Abnormality of the periosteum
Abnormality of the periosteum 		1 0 1 1.00 0 0
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		2 30 1 0.50 9 0.26
CUI: C0264306
Disease: Laryngeal Obstruction
Laryngeal Obstruction 		2 2 1 0.50 1 7.1E-02