Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
SUMF1 and intellectual disability are reported together in 2 articles.
Gene
SUMF1
- HGNC
- HGNC:20376
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Intellectual disability
- HPO
- HP:0001249
736articles
736mentions
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.
Publications
2 records shown · first 60Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.
PMID 30124108 | DOI 10.1177/0883073818790851 · Journal of child neurology · 2018 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SUMF1 | “Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine-generating enzyme, which is encoded by the Sulfatase Modifying Factor 1 ( SUMF1) gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “The most common characteristics are developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | lysosomal storage disease | “Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine-generating enzyme, which is encoded by the Sulfatase Modifying Factor 1 ( SUMF1) gene.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Herein, we report 6 Saudi patients with multiple sulfatase deficiency caused by a novel homozygous missense mutation in the SUMF1 gene (NM_182760.3; c.785A>G [p.Gln262Arg]). All patients are consanguineous and suffer from developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease.” | 0.95 | saudi_context_rules_v1 |
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.
PMID 28720891 | PMCID PMC5515956 | DOI 10.1038/s41598-017-06033-1 · Scientific reports · 2017 · 15 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SUMF1 | “Examples include SUMF1, KDM5B and MXRA5 (Known-ASD genes), PRODH2 and KCTD21 (implicated in schizophrenia), as well as USP9X and SMS (implicated in intellectual disability).” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Examples include SUMF1, KDM5B and MXRA5 (Known-ASD genes), PRODH2 and KCTD21 (implicated in schizophrenia), as well as USP9X and SMS (implicated in intellectual disability).” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | GLT8D1 | “Our pipeline uncovered variants in 15 ASD-candidate genes, including 5 (GLT8D1, HTATSF1, OR6C65, ITIH6 and DDX26B) that have not been reported in any human condition.” | 0.98 | hgnc_dict_v1 |
| gene | HTATSF1 | “Our pipeline uncovered variants in 15 ASD-candidate genes, including 5 (GLT8D1, HTATSF1, OR6C65, ITIH6 and DDX26B) that have not been reported in any human condition.” | 0.98 | hgnc_dict_v1 |