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3 records shown · first 60

PMID 29383837 | DOI 10.1002/ajmg.a.38615 · American journal of medical genetics. Part A · 2018 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
variant	c.1A>G	“After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.M1?] in our population, and variable phenotypic expressivity in newly identified cases.”	0.95	hgvs_regex_v1
gene	C12orf57	“After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.M1?] in our population, and variable phenotypic expressivity in newly identified cases.”	0.98	hgnc_dict_v1
phenotype	intellectual disability	“Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum.”	0.98	phenotype_alias_lexicon_v2
phenotype	epilepsy	“Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum.”	0.98	phenotype_alias_lexicon_v2

PMID 28635425 | DOI 10.1080/13816810.2017.1289543 · Ophthalmic genetics · 2017 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
variant	c.1A>G	“RESULTS: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined.”	0.95	hgvs_regex_v1
gene	CABP4	“RESULTS: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined.”	0.98	hgnc_dict_v1
population	Saudi Arabia	“RESULTS: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined.”	0.95	saudi_context_rules_v1
variant	c.81_82insA	“RESULTS: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined.”	0.95	hgvs_regex_v1

PMID 23633300 | DOI 10.1002/ajmg.a.35850 · American journal of medical genetics. Part A · 2013 · 6 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
variant	c.1A>G	“A potentially deleterious nucleotide change (c.1A>G; p.Met1Val) in the C12orf57 gene was homozygous in all affected individuals, heterozygous in the parents, and absent in an unaffected sibling and >350 normal individuals.”	0.95	hgvs_regex_v1
gene	C12orf57	“A potentially deleterious nucleotide change (c.1A>G; p.Met1Val) in the C12orf57 gene was homozygous in all affected individuals, heterozygous in the parents, and absent in an unaffected sibling and >350 normal individuals.”	0.98	hgnc_dict_v1
phenotype	intellectual disability	“Genetic factors represent an important etiologic group in the causation of intellectual disability.”	0.98	phenotype_alias_lexicon_v2
phenotype	epilepsy	“The four individuals (aged 18, 16, 13, and 2 years when last examined) had motor and cognitive delay with seizures in early childhood, and three of the four (sparing only the youngest child) had progressive, severe cognitive decline with spasticity.”	0.93	phenotype_alias_lexicon_v2