Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.120 GeneticVariation phenotype BEFREE Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. 24621862 2014
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.120 GeneticVariation phenotype BEFREE A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth. 22790431 2012
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.120 Biomarker phenotype HPO
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.100 Biomarker phenotype HPO
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
0.100 Biomarker phenotype HPO
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.100 Biomarker phenotype HPO
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
0.100 Biomarker phenotype HPO
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
0.100 Biomarker phenotype HPO
Entrez Id: 57105
Gene Symbol: CYSLTR2
CYSLTR2
0.100 Biomarker phenotype HPO
Entrez Id: 4016
Gene Symbol: LOXL1
LOXL1
0.100 Biomarker phenotype HPO
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
0.010 Biomarker phenotype BEFREE Choroidal thickness of all subjects was measured using an optical coherence tomography device (Spectralis OCT, version 6.0, Heidelberg Engineering, Germany) with an enhanced depth imaging mode without pupil dilation. 31432355 2020
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
0.010 GeneticVariation phenotype BEFREE However, there is no report of mice with Ip3r1 heterozygous mutations showing dilated pupils. 31391379 2020
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
0.010 AlteredExpression phenotype BEFREE The corneas exposed to gB1s show the appearance of mydriasis and high levels of TLR2 and IL-8 mRNAs transcripts were detected in the superficial layer of corneal epithelial cells. 31487910 2019
Entrez Id: 1131
Gene Symbol: CHRM3
CHRM3
0.010 GeneticVariation phenotype BEFREE This is the first independent report of biallelic variants in CHRM3 in a family with a rare serious bladder disorder associated with mydriasis and provides important evidence of this association. 31441039 2019
Entrez Id: 7097
Gene Symbol: TLR2
TLR2
0.010 AlteredExpression phenotype BEFREE The corneas exposed to gB1s show the appearance of mydriasis and high levels of TLR2 and IL-8 mRNAs transcripts were detected in the superficial layer of corneal epithelial cells. 31487910 2019
Entrez Id: 84650
Gene Symbol: EBPL
EBPL
0.010 Biomarker phenotype BEFREE Here, 9-month-olds (N = 59) showing clearer neural processing (Event-related potential, ERP) of a give-me gesture also evidenced a stronger reaction (pupil dilation) to an inappropriate response to a give-me gesture, and at 2 years were more likely to give in response to a give-me gesture. 30102423 2019
Entrez Id: 2004
Gene Symbol: ELK3
ELK3
0.010 Biomarker phenotype BEFREE Here, 9-month-olds (N = 59) showing clearer neural processing (Event-related potential, ERP) of a give-me gesture also evidenced a stronger reaction (pupil dilation) to an inappropriate response to a give-me gesture, and at 2 years were more likely to give in response to a give-me gesture. 30102423 2019
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.010 AlteredExpression phenotype BEFREE A smaller expression of IL-6 to the overall cytokine network value was observed in cases receiving preoperative bromfenac 0.09%, explaining improved maintenance of intraoperative mydriasis.[J Refract Surg.2018;34(10):646-652.]. 30296325 2018
Entrez Id: 5463
Gene Symbol: POU6F1
POU6F1
0.010 GeneticVariation phenotype BEFREE In the univariate analysis, factors associated with an unfavorable outcome were preoperative coagulopathy, midline shift of the brain ≥ 5 mm, basal cistern effacement, moderate to severe TBI, hypotension, fixed and dilated pupils, surgical site infection, hematocrit < 30% on admission, coup contusion, and subdural hematoma. 30544306 2018
Entrez Id: 28982
Gene Symbol: FLVCR1
FLVCR1
0.010 Biomarker phenotype BEFREE Skin conductance and heart rate were coregistered and correlated with latent components of pupil dilation (dissociated by temporal PCA). 28560724 2017
Entrez Id: 3350
Gene Symbol: HTR1A
HTR1A
0.010 AlteredExpression phenotype BEFREE It has been reported that activation of the serotonin (5-HT)1A receptor differently affects pupil response in rodents (mydriasis) and humans (miosis). 27922541 2017
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.010 Biomarker phenotype BEFREE A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth. 22790431 2012
Entrez Id: 3084
Gene Symbol: NRG1
NRG1
0.010 GeneticVariation phenotype BEFREE An ENU-induced mutation of Nrg1 causes dilated pupils and a reduction in muscarinic receptors in the sphincter pupillae. 21949880 2011
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
0.010 GeneticVariation phenotype BEFREE Mice carrying a targeted allele of Phox2b also have dilated pupils and the two alleles do not complement. 15150159 2004