SOX2 gene
The SOX2 gene, also known as SRY (sex determining region Y)-box 2, is a gene that plays a crucial role in embryonic…
SMARCE1 gene
The SMARCE1 gene is a genetic factor that has been listed among the additional Coffin-Siris syndrome genes (Coffin-Siris genes). Coffin-Siris syndrome is…
Xeroderma pigmentosum
Xeroderma pigmentosum (XP) is a rare genetic condition characterized by extreme sensitivity to ultraviolet (UV) radiation from sunlight. Individuals with XP have…
CYP7B1 gene
The CYP7B1 gene is a gene that is listed in the Human Gene Mutation Database (HGMD) as a type of cytochrome P450…
POMT1 gene
The POMT1 gene is an early health gene that is listed in various databases such as OMIM. It is involved in the…
SLC22A5 gene
The SLC22A5 gene, also known as cationcarnitine transporter 2 (OCTN2) gene, provides instructions for making a protein that is involved in the…
Congenital hepatic fibrosis
Congenital hepatic fibrosis (CHF) is a rare genetic condition that affects the development of the liver and gallbladder. It is characterized by…
TP53 gene
The TP53 gene, also known as the tumor protein 53, is a key gene involved in the control of the cell cycle…
G6PC gene
The G6PC gene is associated with glycogen storage disease type Ia (GSDIA). GSDIA is a genetic disease that affects the storage of…