Source: CLINVAR ×
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: C0238506
Disease: Congenital posterior urethral valves
Congenital posterior urethral valves 		1 0 1 1.00 0 0
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		1 1 1 1.00 1 7.1E-02
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis 		1 2 1 1.00 2 0.14
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		1 1 1 1.00 1 7.1E-02
CUI: C1848977
Disease: Short upper lip
Short upper lip 		1 1 1 1.00 1 7.1E-02
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		1 13 1 1.00 9 0.50
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		1 2 1 1.00 2 0.14
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		1 9 1 1.00 8 0.53
CUI: C1867563
Disease: CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT 		1 1 1 1.00 1 7.1E-02
CUI: C1867564
Disease: SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY 		1 1 1 1.00 1 7.1E-02
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		1 10 1 1.00 9 0.60
CUI: C3280768
Disease: Abnormality of the posterior cranial fossa
Abnormality of the posterior cranial fossa 		1 1 1 1.00 1 7.1E-02
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		1 10 1 1.00 8 0.50
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		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 1 1 1.00 1 7.1E-02
CUI: C4016346
Disease: CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL 		1 0 1 1.00 0 0
CUI: C4020908
Disease: Hypointensity of cerebral white matter on MRI
Hypointensity of cerebral white matter on MRI 		1 1 1 1.00 1 7.1E-02
CUI: C4023628
Disease: Mild fetal ventriculomegaly
Mild fetal ventriculomegaly 		1 1 1 1.00 1 7.1E-02
CUI: C4023749
Disease: Abnormality of the zygomatic bone
Abnormality of the zygomatic bone 		1 1 1 1.00 1 7.1E-02
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		2 13 1 0.50 2 8.0E-02
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		2 30 1 0.50 9 0.26
CUI: C0264306
Disease: Laryngeal Obstruction
Laryngeal Obstruction 		2 0 1 0.50 0 0
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		2 0 1 0.50 0 0
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		2 15 1 0.50 8 0.38