Type	Entity	Source evidence	Confidence	Extractor
gene	UGDH	“Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“In this case study, we report a large consanguineous family with multiple children suffering from cerebral palsy, seizure, developmental and epileptic encephalopathy, and global developmental delay.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia	“Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia. In this case study, we report a large consanguineous family with multiple children suffering from cerebral palsy, seizure, developmental and epileptic encephalopathy, and global developmental delay. However, the variant identified in this study has been observed only in the Saudi population (13 families) and not in any other ethnic background, suggesting that it may be an ancient founder mutation.”	0.95	saudi_context_rules_v1
variant	c.950G>A	“Whole-exome sequencing (WES) analysis revealed a homozygous variant in the UDP-glucose dehydrogenase (UGDH) gene (c.950G>A; p.R317Q) which segregates with the familial phenotype with a plausible autosomal recessive mode of inheritance, indicating a potential disease-causing association.”	0.95	hgvs_regex_v1

PMID 32175296 | PMCID PMC7056728 | DOI 10.3389/fped.2020.00071 · Frontiers in pediatrics · 2020 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	UGDH	“A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia.”	0.98	phenotype_alias_lexicon_v2
population	Population	“In this report, we describe one child of a consanguineous family who presented with distinct clinical features including global developmental delay, axial hypotonia, bilateral undescended testis, and subtle dysmorphic features.”	0.80	saudi_context_rules_v1
variant	p.Arg317Gln	“Though mutations in the UGDH protein have been described as causing developmental delay in various model organisms, to our knowledge, this is the first identification of the novel homozygous missense variant in exon8 of UGDH NM_003359.3: c.950 G>A (p.Arg317Gln) and most likely the cause of the patient's phenotype.”	0.95	hgvs_regex_v1

PMID 32001716 | PMCID PMC6992768 | DOI 10.1038/s41467-020-14360-7 · Nature communications · 2020 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	UGDH	“Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families presenting with epileptic encephalopathy with developmental delay and hypotonia.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay.”	0.98	phenotype_alias_lexicon_v2
phenotype	epilepsy	“Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay.”	0.93	phenotype_alias_lexicon_v2