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Gene Gene information from NCBI Gene database.
Entrez ID 101930112
Gene name -
Gene symbol LOC101930112
Synonyms (NCBI Gene)
-
Chromosome 16
Chromosome location 16q24.3
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
ENSG00000197912 N/A N/A
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
hereditary spastic paraplegia — Open Targets 18200586,22571692,16534102,20186691,9635427,17646629,16765570,25681447,19364936,31068484,33598982,32548275,39978794,31854126,34405107,33774748,22964162,25034272,33841295,23065789,24727571,32893728,32161564,27604308,30252181,33045469
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 7, autosomal recessive — Open Targets 16765570,18200586,22571692,16534102,20186691,25681447,19364936,9635427,17646629,30252181,39978794,27604308,33045469,24727571,31068484,23065789,32893728,32161564,34405107,33774748,22964162,25034272,33841295,32548275,33598982,31854126,27217339
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations