1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Swiss-Prot Reviewed
basal cell carcinomachondromalaciaactinic keratosishypothyroidism
Based on limited published evidence, FAM227B is a gene of unknown intrinsic function with emerging associations to thyroid dysfunction. Recent multi-omics analysis identified FAM227B as a key candidate gene for hyperthyroidism through cross-tissue transcriptome-wide association and polygenic prioritization 1. GTEx colocalization analysis confirmed significant tissue-specific colocalization between FAM227B and hyperthyroidism signals in the adrenal gland, lung, and minor salivary gland 1. Phenome-wide association studies linked FAM227B to cardiovascular disease associations 1. However, the mechanistic basis for FAM227B's role in thyroid dysfunction and its biochemical function remain uncharacterized.
1
FAM227B identified as key gene for hyperthyroidism through multi-omics integration; shows tissue-specific colocalization with hyperthyroidism signals in adrenal gland, lung, and salivary gland; associated with cardiovascular disease phenotypes
PMID: 41570039β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
basal cell carcinomaOpen Targets
chondromalaciaOpen Targets
actinic keratosisOpen Targets
hypothyroidismOpen Targets
spondylolisthesisOpen Targets
nontoxic goiterOpen Targets
multinodular goiterOpen Targets
Toxic Nodular GoiterOpen Targets
ThyrotoxicosisOpen Targets
colorectal carcinomaOpen Targets
vascular diseaseOpen Targets
intestinal diseaseOpen Targets
liver diseaseOpen Targets
bone fractureOpen Targets
thyroid diseaseOpen Targets
human papilloma virus infectionOpen Targets
hyperthyroidismOpen Targets
No pathogenic variants reported on ClinVar for this gene.