LOC111365204 (-)

Gene Gene information from NCBI Gene database.
Gene Other IDs Associated diseases
Entrez ID 111365204
Gene name -
Gene symbol LOC111365204
Synonyms (NCBI Gene)
DHS6S1MCDR1PBCRA
Chromosome 6
Chromosome location 6q16.2
Summary This genomic region represents a DNase I hypersensitive site (DHS) that is present in the intergenic region between the cyclin C (CCNC) and PR/SET domain 13 (PRDM13) genes on chromosome 6. Mutations in this region are associated with autosomal dominant re
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Other IDs Associated diseases
MIM HGNC e!Ensembl
616842 N/A N/A
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Other IDs Associated diseases
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)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
North Carolina macular dystrophy Pathogenic rs1008984719 RCV000787351
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive bifocal chorioretinal atrophy Pathogenic rs1008984719, rs1583609839 RCV000787351
RCV000787352
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)