Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 796
Gene Symbol: CALCA
CALCA
0.010 Biomarker phenotype BEFREE The clinical investigations included ophthalmological and radiological studies for von Hippel-Lindau disease (magnetic resonance imaging of the brain, computed tomography of the abdomen, and direct ophthalmoscopy after mydriasis) and annual calcitonin stimulation tests for C cell disease in five members who agreed to regular follow-up. 8772572 1996
Entrez Id: 348
Gene Symbol: APOE
APOE
0.010 Biomarker phenotype BEFREE This association also suggests the potential involvement of APOE4 in the mechanism of pupil dilation. 9137131 1997
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
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: 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: 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: 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: 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: 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: 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