|
rs10911193
|
|
Ptosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although we found that the previously reported LAMC1 SNP rs10911193 was not associated with nonfamilial prolapse, our results support further investigation of this candidate gene in the pathophysiology of prolapse.
|
22342894 |
2012 |
|
rs113994095
|
|
Ptosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
|
18546343 |
2008 |
|
rs113994097
|
|
Ptosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
|
18546343 |
2008 |
|
rs121912823
|
|
Ptosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The missense mutation I336T has been identified in Turkish population, and most of the cases carrying this mutation present with exercise-induced fatigability and ptosis.
|
19289695 |
2009 |
|
rs140291094
|
|
Ptosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Horstick et al.(2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).
|
28777491 |
2017 |
|
rs1555669248
|
|
Ptosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The missense mutation (p.Phe394Ser) affects an amino acid residue highly conserved in evolution, and co-segregates with a phenotype characterized by congenital non-progressive bilateral facial palsy and congenital velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia, impaired gag reflex and bilateral ptosis.
|
29016863 |
2017 |
|
rs1800012
|
|
Ptosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The rs1800012 polymorphism of the COL1A1 gene was associated with prolapse (OR, 1.3; 95% CI, 1.0-1.7; n = 838) and stress urinary incontinence (OR, 2.1; 95% CI, 1.4-3.2; n = 190).
|
25111588 |
2015 |
|
rs3918253
|
|
Ptosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of these, two were associated with advanced prolapse: 1) rs3918253 (adjusted odds ratio [OR] 0.64, 95% confidence interval [CI] 0.41-1.0, P=.05); and 2) rs3918256 (adjusted OR 0.64, 95% CI 0.41-1.01, P=.05).
|
22914468 |
2012 |
|
rs3918256
|
|
Ptosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of these, two were associated with advanced prolapse: 1) rs3918253 (adjusted odds ratio [OR] 0.64, 95% confidence interval [CI] 0.41-1.0, P=.05); and 2) rs3918256 (adjusted OR 0.64, 95% CI 0.41-1.01, P=.05).
|
22914468 |
2012 |
|
rs758026634
|
|
Ptosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Autosomal dominant progressive external ophthalmoplegia due to the p.R357P PEO1 mutation is a late-onset ocular myopathy beginning with ptosis and progressing slowly.
|
24018892 |
2013 |
|
rs77543610
|
|
Ptosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the P253R group, 85% had strabismus (14% required surgery), 71% had ptosis, 43% had amblyopia, 14% had nasolacrimal duct obstruction, 14% had myopia, 14% had hyperopia, and 14% had astigmatism.
|
17189145 |
2006 |
|
rs79184941
|
|
Ptosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the S252W group, 91% had strabismus (64% required surgery), 73% had ptosis, 73% had amblyopia, 100% had nasolacrimal duct obstruction, 36% had myopia, 9% had hyperopia, and 82% had astigmatism.
|
17189145 |
2006 |