Type	Entity	Source evidence	Confidence	Extractor
gene	SMN2	“The primary outcome, assessed in infants with two SMN2 copies and a baseline ulnar compound muscle action potential (CMAP) amplitude of at least 1.5 mV, was the ability to sit without support at month 12.”	0.98	hgnc_dict_v1
phenotype	spinal muscular atrophy	“Risdiplam in Presymptomatic Spinal Muscular Atrophy.”	0.98	phenotype_alias_lexicon_v2

PMID 38879606 | PMCID PMC11180197 | DOI 10.1038/s43856-024-00548-1 · Communications medicine · 2024 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	SMN2	“Most patients (71%) has two SMN2 copies and earlier disease onset.”	0.98	hgnc_dict_v1
phenotype	spinal muscular atrophy	“Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia	“SMA incidence has not been well-characterized in most Arab countries where rates of consanguinity are high. In addition, we carry out genetic newborn screening for SMA on 1502 healthy Emirati newborns to estimate the carrier frequency and incidence of the disease in the United Arab Emirates. Using birth and marriage rates in two Arab populations (United Arab Emirates and Saudi Arabia), as well as disease incidence in both countries, we show that, besides preventing new cases, premarital genetic screening could potentially result in around $8 to $324 million annual cost savings, respectively, relative to postnatal treatment.”	0.95	saudi_context_rules_v1

PMID 37964750 | PMCID PMC10724519 | DOI 10.1002/mgg3.2184 · Molecular genetics & genomic medicine · 2023 · 6 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	SMN2	“METHODS: We examined allelic, genotypic relatedness and copy number (CN) variations and frequencies of SMN1 and SMN2, in 13,426 samples from Qatar biobank (QBB) to provide a precise estimation of SMA carrier frequency in Qatar in comparison to other populations.”	0.98	hgnc_dict_v1
phenotype	spinal muscular atrophy	“Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.”	0.98	phenotype_alias_lexicon_v2
gene	SMN1	“BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7.”	0.98	hgnc_dict_v1
population	Saudi Arabia	“CONCLUSION: The SMA carrier frequency in Qatar was found to be comparable to Saudi Arabia and Caucasians.”	0.95	saudi_context_rules_v1

PMID 37927698 | PMCID PMC10623204 | DOI 10.7759/cureus.46452 · Cureus · 2023 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	SMN2	“Evidence suggests that the SMN2 gene modulates the severity of the disease.”	0.98	hgnc_dict_v1
phenotype	spinal muscular atrophy	“Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia.”	0.98	phenotype_alias_lexicon_v2
gene	SMN1	“It is an autosomal recessive disease with the mutation of the survival motor neuron 1 (SMN1) gene as a hallmark.”	0.98	hgnc_dict_v1
population	Saudi Arabia	“Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia. This study aims to describe the genetic makeup and characteristics of an SMA cohort in the Kingdom of Saudi Arabia (KSA). RESULTS AND DISCUSSION: Seventeen families were enrolled in the study, including 52 children. Further studies are needed to understand the burden and impact of SMA among the Saudi population.”	0.95	saudi_context_rules_v1

PMID 36062320 | PMCID PMC9651606 | DOI 10.1002/mgg3.2049 · Molecular genetics & genomic medicine · 2022 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	SMN2	“To discern the SMN1 copy number independently from SMN2, Multiplex PCR with Dral restriction fragment analysis was completed.”	0.98	hgnc_dict_v1
phenotype	spinal muscular atrophy	“Spinal muscular atrophy carrier frequency in Saudi Arabia.”	0.98	phenotype_alias_lexicon_v2
gene	SMN1	“To discern the SMN1 copy number independently from SMN2, Multiplex PCR with Dral restriction fragment analysis was completed.”	0.98	hgnc_dict_v1
population	Saudi Arabia	“Spinal muscular atrophy carrier frequency in Saudi Arabia. Although no large-scale popultion-based studies have been done in Saudi Arabia, it is reported that the incidence of SMA is higher in the Saudi population partly because of the high degree of consanguineous marriages. We estimated the birth incidence of SMA to be 32 per 100,000 birth and the total number of people living with SMA in the Kingdom of Saudi Arabia to be 2265 of which 188 are type I, 1213 are type II, and 8,64 are type III. CONCLUSION: The SMA carrier rate of 2.6% in Saudi control subjects is slightly higher than the reported global frequency of 1.25 to 2% with links to the high degree of consanguinity.”	0.95	saudi_context_rules_v1

PMID 15720302 | DOI 10.1046/j.1529-8817.2004.00149.x · Annals of human genetics · 2005 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	SMN2	“The SMA-determining gene, called the survival of motor neuron gene (SMN), is present on 5q13 in two nearly identical copies, telomeric SMN (SMN1) and centromeric SMN (SMN2).”	0.98	hgnc_dict_v1
phenotype	spinal muscular atrophy	“Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper.”	0.98	phenotype_alias_lexicon_v2
gene	SMN1	“The SMA-determining gene, called the survival of motor neuron gene (SMN), is present on 5q13 in two nearly identical copies, telomeric SMN (SMN1) and centromeric SMN (SMN2).”	0.98	hgnc_dict_v1