SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.100 Biomarker disease BEFREE Pediatric PROMIS and SRS-22 were obtained at routine clinical visits for AIS at a tertiary care children's hospital from January 2017 to October 2017. 31574066 2019
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.100 Biomarker disease BEFREE Pediatric PROMIS and SRS-22 were obtained at routine clinical visits for AIS at a tertiary care children's hospital from January 2017 to October 2017. 31205184 2019
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.100 Biomarker disease BEFREE The purpose of this study was to determine the MDMD for the Scoliosis Research Society-22r (SRS-22r) in adolescent idiopathic scoliosis (AIS) patients treated with surgery. 30986576 2019
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.100 GeneticVariation disease BEFREE The purpose of this study was to develop a novel patient-reported outcome measure for Japanese female patients with AIS and to evaluate the reliability and validity of this questionnaire in comparison with the SRS-22 tool. 29615021 2018
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.100 Biomarker disease BEFREE However, the prognosis of all the AIS patients was good, and the satisfaction of the Scoliosis Research Society Outcomes Instrument (SRS-22) questionnaire was 4.4 ± 0.5 at final follow-up.In the management of mild and moderate AIS, satisfactory clinical results can be obtained using posterior pedicle screw instrumentation without osteotomy. 30200098 2018
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.100 GeneticVariation disease BEFREE Evolution of surgical technique in AIS over the past 20 years has resulted in a cessation of anterior only surgery, increasing use of all screw constructs, less blood loss, greater use of AF, shorter operative times and LOS, lower major complications rates, and greater improvements in SRS scores. 28723878 2018
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.100 GeneticVariation disease BEFREE The minimal clinically important difference (MCID) of the Appearance domain of the SRS-22 questionnaire is an increase ≥1.0 in surgically treated patients with adolescent idiopathic scoliosis (AIS). 27942937 2017
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.100 GeneticVariation disease BEFREE To compare perioperative, radiographic, and Scoliosis Research Society-22 (SRS-22) outcomes of consecutive, interval, and skipped pedicle screw techniques in patients with moderate Lenke type 1 adolescent idiopathic scoliosis (AIS). 27888080 2017
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.100 GeneticVariation disease BEFREE At the beginning and end of multidisciplinary rehabilitation programs, 149 subjects with mild AIS (Cobb angle <25°) and 140 subjects with moderate AS (Cobb angle <35°) completed the SRS-22. 28538526 2017
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.100 Biomarker disease BEFREE This is a prospective study to establish prediction models that map the refined Scoliosis Research Society 22-item (SRS-22r) onto EuroQoL-5 dimension 5-level (EQ-5D-5L) utility scores in adolescent idiopathic scoliosis (AIS) patients. 28414745 2017
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.100 Biomarker disease BEFREE The SRS-22 is widely used for the assessment of health-related quality of life in adolescent idiopathic scoliosis (AIS) and other spinal deformities. 28146020 2017