LOC102724428 (-)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Pathways Associated diseases
Entrez ID 102724428
Gene name -
Gene symbol LOC102724428
Synonyms (NCBI Gene)
SIKSIK-1SIK1SIK1BSNF1LK
Chromosome 21
Chromosome location 21p12
SNPs SNP information provided by dbSNP.
1
Gene SNPs Other IDs Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1555841977 C>T Pathogenic Missense variant, coding sequence variant
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Pathways Associated diseases
MIM HGNC e!Ensembl
ENSG00000275993 N/A N/A
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Other IDs Pathways Associated diseases
  KEGG 
  Glucagon signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene SNPs Other IDs Pathways 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 (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Self-limited epilepsy with centrotemporal spikes Pathogenic rs1555841977 RCV000656064
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (1)
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 Evidence Score
EPILEPSY, ROLANDIC — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (125)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 25384047
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 31732074
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31350327
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31824497 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 29615459
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 25839329
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 25839329 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19724060
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29216867, 31819138, 33545220, 37556419 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only