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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.

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MCOLN1 and neurodevelopmental disorder are reported together in 1 article.

Gene

MCOLN1

1articles

1mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

450articles

450mentions

12co-reported genes shown

Most co-reported genes (articles)

Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.

1 records shown · first 60

PMID 23685283 | DOI 10.1016/j.gene.2013.04.076 · Gene · 2013 · 6 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	MCOLN1	“Several mutations have been reported in MCOLN1 which is the only known gene associated with the disorder.”	0.98	hgnc_dict_v1
phenotype	neurodevelopmental disorder	“Emphasis is made on the importance of brain magnetic resonance imaging (MRI) findings and serum gastrin level as key clues to the diagnosis of this often subtle neurodevelopmental disorder.”	0.98	phenotype_alias_lexicon_v2
phenotype	lysosomal storage disease	“Mucolipidosis type IV is a rare autosomal recessive lysosomal storage disorder reported among Ashkenazi Jews and to a lesser extent in other ethnic groups.”	0.93	phenotype_alias_lexicon_v2
population	Saudi Arabia	“Here we report the first Saudi patient with Mucolipidosis type IV from a consanguineous family with two branches having a total of five patients carrying a novel transition mutation, c.1307A>G (p.Y436C) in exon 11.”	0.95	saudi_context_rules_v1