SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
Disease: Pierre Robin Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880 2019
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 Biomarker disease BEFREE SOX9 gene plays an important role during craniofacial development in animal models and the Pierre Robin sequence (PRS). 28068523 2017
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 Biomarker disease BEFREE Balanced and unbalanced structural genomic variants with breakpoints mapping up to 1.3 Mb up- and downstream to SOX9 have been described in patients with milder phenotypes, including acampomelic campomelic dysplasia, sex reversal, and Pierre Robin sequence. 28085555 2017
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 GeneticVariation disease BEFREE Translocations and deletions involving the SOX9 5' regulatory region are rare causes of these disorders, as well as Pierre Robin sequence (PRS) and 46,XY gonadal dysgenesis. 26663529 2016
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 GeneticVariation disease BEFREE The clinical presentation of the SOX9 mutation and type 2 collagen disorders overlap with the Pierre-Robin sequence and talipes equinovarus, but the former is often accompanied by the bent long bones. 24704791 2015
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 Biomarker disease BEFREE We present an ∼1.58 Mb deletion mapping ∼1.28 Mb upstream to SOX9 that encompasses its putative long-range cis-regulatory element(s) and MAP2K6 in a patient with Pierre Robin sequence and osteopenia with multiple fractures. 26059046 2015
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 Biomarker disease BEFREE Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. 24363063 2014
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 GermlineCausalMutation disease ORPHANET These studies suggest that multiple noncoding elements contribute to the craniofacial regulation of SOX9 expression, and that their disruption results in PRS. 24934569 2014
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 GeneticVariation disease BEFREE Pierre Robin sequence (PRS) is a craniofacial disorder that is frequently an endophenotype of CD and a locus for isolated PRS at ∼1.2-1.5 Mb upstream of SOX9 has been previously reported. 24934569 2014
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 Biomarker disease BEFREE Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. 23532965 2013
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 GeneticVariation disease BEFREE Heterozygous loss-of-function coding-sequence mutations of the transcription factor SOX9 cause campomelic dysplasia, a rare skeletal dysplasia with congenital bowing of long bones (campomelia), hypoplastic scapulae, a missing pair of ribs, pelvic, and vertebral malformations, clubbed feet, Pierre Robin sequence (PRS), facial dysmorphia, and disorders of sex development. 24115316 2013
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 GeneticVariation disease BEFREE Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula. 22529047 2012
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 Biomarker disease BEFREE Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. 19234473 2009
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 Biomarker disease BEFREE Recent data indicate that this regulatory domain may extend substantially further, with identification of several disruptions greater than 1 Mb upstream of SOX9 associated with isolated Pierre Robin sequence (PRS), a craniofacial disorder that is frequently a component of CD. 19473998 2009
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 GermlineCausalMutation disease ORPHANET Some cases of PRS may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements. 19234473 2009
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 Biomarker disease CTD_human Some cases of PRS may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements. 19234473 2009
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 GeneticVariation disease BEFREE The Pierre Robin sequence (PRS), consisting of cleft palate, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes--for instance, campomelic dysplasia (CD) which is caused by SOX9 mutations--but the aetiology of non-syndromic PRS has not yet been unravelled. 17551083 2007
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal. 8894698 1996