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Gene Gene information from NCBI Gene database.
Entrez ID 102723370
Gene name -
Gene symbol LOC102723370
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11p15.1-p14.3
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
ENSG00000171714 N/A N/A
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANOCTAMIN-5-RELATED LIMB-GIRDLE MUSCULAR DYSTROPHY R12 — Open Targets 20096397,25929793
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
autosomal recessive limb-girdle muscular dystrophy — Open Targets 20096397,22499103,25864073,25891276,25929793,32925086,33496727
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Disproportionate Short Stature — Open Targets 32112655,15124103,23047743
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
gnathodiaphyseal dysplasia — Open Targets 15124103,30641283,35758145,38922934,32112655,23047743,20096397,27216912
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY — Open Targets 20096397,25929793,22499103,25891276
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations