Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GeneticVariation BEFREE Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome. 28398665

2017

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GeneticVariation BEFREE We also provide a focused review of all published PDAC syndrome cases with confirmed or inferred STRA6 mutations, illustrating the phenotypic and molecular variability that characterizes this disorder. 26373900

2016

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 CausalMutation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459

2016

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GeneticVariation BEFREE Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. 23591992

2013

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GeneticVariation BEFREE Recessive mutations in STRA6, encoding a membrane receptor for the retinol-binding protein, have been identified in some cases with PDAC syndrome, although many cases have remained unexplained. 24075189

2013

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GeneticVariation BEFREE Mutations in FRAS1 and FREM2 occur in FS, and mutations in STRA6 occur in MCOPS9. 22283518

2013

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GeneticVariation UNIPROT Signaling by vitamin A and retinol-binding protein regulates gene expression to inhibit insulin responses. 21368206

2011

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GeneticVariation UNIPROT The STRA6 p.G304K mutation was subsequently detected in additional MCOPCB patients, including one individual with Matthew-Wood syndrome (MWS; MCOPS9). 21901792

2011

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GeneticVariation BEFREE The STRA6 p.G304K mutation was subsequently detected in additional MCOPCB patients, including one individual with Matthew-Wood syndrome (MWS; MCOPS9). 21901792

2011

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GeneticVariation BEFREE Recessive stimulated by retinoic acid gene 6 homolog (STRA6) mutations have recently been identified as the cause of cases of PDAC in which distinct, "bushy" eyebrows have been observed. 19839040

2009

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GeneticVariation BEFREE We performed STRA6 molecular analysis in three fetuses and one child diagnosed with Matthew-Wood syndrome and in three siblings where two adult living brothers are affected with combinations of clinical anophthalmia, tetralogy of Fallot, and mental retardation. 19309693

2009

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 Biomarker GENOMICS_ENGLAND Recessive stimulated by retinoic acid gene 6 homolog (STRA6) mutations have recently been identified as the cause of cases of PDAC in which distinct, "bushy" eyebrows have been observed. 19839040

2009

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GeneticVariation BEFREE In humans, mutations in STRA6 are associated with Matthew-Wood syndrome, manifested by multisystem developmental malformations. 18316031

2008

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GeneticVariation UNIPROT Molecular analysis of STRA6 was undertaken in two human fetuses from consanguineous families we previously described with Matthew-Wood syndrome in a context of severe microphthalmia, pulmonary agenesis, bilateral diaphragmatic eventration, duodenal stenosis, pancreatic malformations, and intrauterine growth retardation. 17503335

2007

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 Biomarker CTD_human Molecular analysis of STRA6 was undertaken in two human fetuses from consanguineous families we previously described with Matthew-Wood syndrome in a context of severe microphthalmia, pulmonary agenesis, bilateral diaphragmatic eventration, duodenal stenosis, pancreatic malformations, and intrauterine growth retardation. 17503335

2007

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GeneticVariation UNIPROT Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 17273977

2007

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 Biomarker GENOMICS_ENGLAND Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 17273977

2007

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 Biomarker BEFREE Molecular analysis of STRA6 was undertaken in two human fetuses from consanguineous families we previously described with Matthew-Wood syndrome in a context of severe microphthalmia, pulmonary agenesis, bilateral diaphragmatic eventration, duodenal stenosis, pancreatic malformations, and intrauterine growth retardation. 17503335

2007

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 GermlineCausalMutation ORPHANET Molecular analysis of STRA6 was undertaken in two human fetuses from consanguineous families we previously described with Matthew-Wood syndrome in a context of severe microphthalmia, pulmonary agenesis, bilateral diaphragmatic eventration, duodenal stenosis, pancreatic malformations, and intrauterine growth retardation. 17503335

2007

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 5915
Gene Symbol: RARB
RARB
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.310 GermlineCausalMutation ORPHANET We then sequenced RARB in 15 subjects with anophthalmia and/or microphthalmia and at least one other feature of PDAC syndrome. 24075189

2013

Entrez Id: 5915
Gene Symbol: RARB
RARB
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.310 Biomarker BEFREE We then sequenced RARB in 15 subjects with anophthalmia and/or microphthalmia and at least one other feature of PDAC syndrome. 24075189

2013

Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.100 Biomarker BEFREE Finally, we determined that KRASG12R-mutant PDAC displayed a distinct drug sensitivity profile compared with KRASG12D-mutant PDAC but is still responsive to the combined inhibition of ERK and autophagy. 31649109

2020

Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.100 Biomarker BEFREE Thus, TGFB1-induced autophagy contributed to the different patterns of PDAC progression. 31177911

2020