Genes & Variants

Angiotensin-converting enzyme

ACE encodes angiotensin-converting enzyme, a zinc metallopeptidase that converts angiotensin I to angiotensin II and inactivates bradykinin....

Apolipoprotein E

APOE encodes apolipoprotein E, a lipid-binding protein that mediates cholesterol and triglyceride transport in the brain and periphery. The ...

Brain-derived neurotrophic factor

BDNF encodes brain-derived neurotrophic factor, a neurotrophin that supports neuronal survival, synaptic plasticity, and neurogenesis. The V...

BRCA1 DNA repair associated

BRCA1 encodes a tumor suppressor protein essential for homologous recombination (HR) DNA double-strand break repair. Germline loss-of-functi...

BRCA2 DNA repair associated

BRCA2 encodes a tumor suppressor that binds RAD51 and promotes its loading onto single-stranded DNA during homologous recombination. Like BR...

Dopamine receptor D2

DRD2 encodes the dopamine D2 receptor, a G protein-coupled receptor that inhibits adenylyl cyclase and modulates dopaminergic signaling in s...

Epidermal growth factor receptor

EGFR encodes the epidermal growth factor receptor, a receptor tyrosine kinase that binds EGF and related ligands to activate RAS-RAF-MAPK an...

Fat mass and obesity-associated protein

FTO encodes fat mass and obesity-associated protein, an alpha-ketoglutarate-dependent dioxygenase that demethylates nucleic acids. The FTO l...

Gasdermin B

GSDMB encodes Gasdermin B, a member of the gasdermin family of pore-forming proteins involved in pyroptosis and inflammatory cell death. GSD...

Glutathione S-transferase pi 1

GSTP1 encodes glutathione S-transferase pi 1, which conjugates glutathione to electrophilic compounds and reactive oxygen species, detoxifyi...

Major histocompatibility complex, class II, DR beta 1

HLA-DRB1 encodes the beta chain of HLA-DR, an MHC class II molecule that presents exogenous antigens to CD4+ T cells. Specific HLA-DRB1 alle...

Interleukin 33

IL33 encodes interleukin-33, a dual-function cytokine and nuclear factor belonging to the IL-1 family. IL-33 functions as an epithelial alar...

LDL receptor

LDLR encodes the low-density lipoprotein receptor, a cell-surface glycoprotein that binds and internalizes LDL cholesterol particles. The re...

Leptin

LEP encodes leptin, an adipokine secreted by adipose tissue that signals energy sufficiency to the hypothalamus via the leptin receptor (LEP...

Melanocortin 4 receptor

MC4R encodes the melanocortin 4 receptor, a G protein-coupled receptor in the hypothalamic leptin-melanocortin pathway that regulates energy...

Methylenetetrahydrofolate reductase

MTHFR encodes methylenetetrahydrofolate reductase, which converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the methyl don...

ORM1-like protein 3

ORMDL3 encodes a transmembrane protein anchored in the endoplasmic reticulum (ER) membrane that acts as a negative regulator of serine palmi...

Proprotein convertase subtilisin/kexin type 9

PCSK9 encodes proprotein convertase subtilisin/kexin type 9, a serine protease that binds the LDL receptor and targets it for lysosomal degr...

Peroxisome proliferator-activated receptor gamma

PPARG encodes a nuclear receptor that regulates adipocyte differentiation, lipid metabolism, and insulin sensitivity. The Pro12Ala variant (...

Alpha-1 antitrypsin

SERPINA1 encodes alpha-1 antitrypsin (A1AT), a serine protease inhibitor that protects lung tissue from neutrophil elastase. The severe Z al...

Solute carrier family 6 member 4

SLC6A4 encodes the serotonin transporter (5-HTT), which reuptakes serotonin from the synaptic cleft and terminates serotonergic signaling. T...

Superoxide dismutase 2, mitochondrial

SOD2 encodes manganese superoxide dismutase, a mitochondrial enzyme that converts superoxide to hydrogen peroxide and protects against oxida...

Transcription factor 7-like 2

TCF7L2 encodes transcription factor 7-like 2, a nuclear effector of the Wnt signaling pathway that regulates gene expression in pancreatic b...

Tumor necrosis factor

TNF encodes tumor necrosis factor alpha, a pro-inflammatory cytokine central to innate immunity and the acute-phase response. TNF-alpha acti...

Tumor protein p53

TP53 encodes p53, a critical tumor suppressor that coordinates cellular responses to DNA damage, oncogenic stress, and other insults. p53 ar...

Thymic Stromal Lymphopoietin

TSLP encodes thymic stromal lymphopoietin, an epithelial-derived cytokine (alarmin) that plays a central role in initiating and amplifying t...