Endocrine System Diseases

Immune system diseases can broadly be categorized into two types: autoimmune diseases and immunodeficiency diseases. The type of genetic transmission for these diseases can vary: 1. **Autoimmune Diseases**: These are often multifactorial, involving a combination of genetic predisposition and environmental factors. Specific autoimmune diseases can have different patterns of inheritance, including: - **Polygenic Inheritance**: Involves multiple genes (e.g., Type 1 Diabetes, Rheumatoid Arthritis). - **Monogenic Inheritance**: Involves a single gene (less common, e.g., Autoimmune Lymphoproliferative Syndrome). 2. **Immunodeficiency Diseases**: These are often caused by single-gene mutations and can follow various patterns of genetic transmission: - **Autosomal Recessive**: Both copies of the gene must be mutated (e.g., Severe Combined Immunodeficiency [SCID]). - **Autosomal Dominant**: Only one copy of the gene needs to be mutated (e.g., Hyper-IgE Syndrome). - **X-Linked Recessive**: The gene causing the disease is located on the X chromosome (e.g., X-Linked Agammaglobulinemia). Each immune system disease can have a specific genetic transmission pattern that influences its inheritance and manifestation.

Associated Genes

Gene	Mutation Type	Allele	Confidence
SLC12A7	Deletion	A/A	High
ZNF518B	Inversion	C/A	High
PUM3	Duplication	C/G	High
MRPL36	Insertion	G/A	High
FOXD4	Deletion	T/G	High

Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene	Frequency
SLC12A7	14%
ZNF518B	5%
PUM3	24%
MRPL36	3%
FOXD4	22%

Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway	Type	Effects
REACT:R-HSA-74160	PI3K-Akt Signaling Pathway	Impacts cellular stress response

Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene	Comorbidities	Associated Mechanism
SLC12A7	Hypertension	Oxidative stress
ZNF518B	Coronary Artery Disease	Inflammation
PUM3	Parkinson's Disease	Mitochondrial impairment
MRPL36	Parkinson's Disease	Oxidative stress
FOXD4	Cancer	Mitochondrial impairment