ListoPedia

Genetic Predisposition Research

This dataset contains information related to genetic associations with various diseases across different populations. Each entry highlights a specific gene, the associated disease, and details from studies assessing the relationship between them, including the type of methodology used, the strength of association, and the year of study.

  1. Gene: The name of the gene studied for its association with a particular disease.
  2. Disease: The medical condition related to the gene studied.
  3. Population: The demographic group in which the study was conducted.
  4. Study Title: The title or description of the research study that examined the gene-disease association.
  5. Year: The year in which the study was published.
  6. Association Strength: The perceived strength of the association between the gene and the disease, categorized as Strong, Moderate, or Weak.
  7. Methodology: The research technique or approach used in the study to investigate the genetic association.

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Sample Data

Gene Disease Population Study Title Year Association Strength Methodology
BRCA1 Breast Cancer European BRCA1 mutations in breast cancer risk 2020 Strong GWAS
BRCA2 Breast Cancer European BRCA2 mutations linked to familial breast cancer 2021 Strong Linkage Analysis
APOE Alzheimer's Disease Caucasian APOE genotype and Alzheimer's disease 1993 Moderate Case-Control Study
TP53 Lung Cancer Asian TP53 mutations in lung cancer risk 2019 Strong Next-Gen Sequencing
LRRK2 Parkinson's Disease Ashkenazi Jewish Genetic risk factors for Parkinson's disease 2017 Moderate Family-Based Study
FTO Obesity European FTO gene variants and obesity in childhood 2007 Moderate Meta-Analysis
CFTR Cystic Fibrosis Caucasian CFTR gene mutations and cystic fibrosis 2016 Strong Whole Exome Sequencing
MTHFR Neural Tube Defects Latin American MTHFR polymorphisms and birth defects 2015 Weak Population-Based Study
HLA-B27 Ankylosing Spondylitis Asian Association between HLA-B27 and ankylosing spondylitis 2014 Strong Genetic Association Study
VEGF Age-related Macular Degeneration European VEGF polymorphisms in AMD patients 2018 Moderate Cohort Study
SLC6A4 Major Depressive Disorder Multiple Ethnicities Serotonin transporter gene and depression 2014 Weak Candidate Gene Study
TYR Albinism African TYR mutations associated with Oculocutaneous Albinism 2019 Strong Mutation Analysis
KRAS Colorectal Cancer Asian KRAS mutation and colorectal cancer prognosis 2016 Strong Case-Control Study
MSH2 Lynch Syndrome Caucasian MSH2 mutations and risk of colorectal cancer 2020 Strong Familial Cancer Study
COMT Schizophrenia European COMT polymorphisms and schizophrenia risk 2002 Weak Genetic Association Study
ABCA1 Cardiovascular Disease Caucasian ABCA1 gene variants in lipid metabolism 2013 Moderate Population-Based Study
IL6 Rheumatoid Arthritis European IL6 gene polymorphisms and RA 2018 Weak Cohort Study
PTEN Cowden Syndrome Caucasian Role of PTEN in hereditary cancers 2018 Strong Genetic Testing Study
TPP1 Batten Disease Caucasian TPP1 mutations in Batten disease 2017 Strong Exome Sequencing
ATRX Alpha Thalassemia African ATRX gene variants and alpha thalassemia 2020 Moderate Genetic Screening
DRD2 Addiction European DRD2 polymorphisms and substance abuse 2016 Weak Case-Control Study
TMEM106B Frontotemporal Dementia Caucasian TMEM106B and neurodegenerative disorders 2012 Moderate Genetic Association Study
APOE Cardiovascular Disease Asian APOE gene variants and cardiovascular risk 2018 Weak Meta-Analysis
CDKN2A Melanoma Australian CDKN2A mutations in familial melanoma 2015 Strong Case-Control Study
GSTP1 Prostate Cancer European GSTP1 polymorphisms and prostate cancer susceptibility 2019 Weak Case-Control Study
ACE Hypertension European ACE gene insertion/deletion polymorphism and hypertension 2000 Moderate Cohort Study
UQCRC1 Parkinson's Disease European Mitochondrial genetic risk factors for PD 2020 Weak Genetic Screening
NTRK1 Congenital Insensitivity Caucasian NTRK1 mutations in congenital insensitivity to pain 2018 Strong Exome Sequencing
FANCA Fanconi Anemia Caucasian FANCA mutations in Fanconi anemia 2016 Strong Cohort Study
VHL Von Hippel-Lindau Syndrome Caucasian VHL mutations and cancer predisposition 2019 Strong Familial Cancer Study
HER2 Breast Cancer Caucasian HER2 amplification and breast cancer 2021 Strong Genetic Testing
PLG Thrombophilia European PLG mutations associated with thrombophilia 2020 Weak Genetic Testing
TNF Inflammatory Bowel Disease European TNF gene polymorphisms and IBD susceptibility 2017 Moderate Case-Control Study
GBA Parkinson's Disease Ashkenazi Jewish GBA mutations linked to Parkinson's disease 2016 Strong Genetic Association Study
NOTCH1 Leukemia Caucasian NOTCH1 mutations in T-cell acute lymphoblastic leukemia 2021 Strong Exome Sequencing
PTCH1 Basal Cell Carcinoma Caucasian PTCH1 mutations in basal cell carcinoma 2019 Strong Genetic Testing
SCN1A Dravet Syndrome Caucasian SCN1A mutations and epilepsy disorders 2017 Strong Exome Sequencing
RHO Retinitis Pigmentosa Caucasian RHO mutations in inherited retinal dystrophies 2020 Strong Genetic Analysis
LAMA2 Congenital Muscular Dystrophy Caucasian LAMA2 mutations in muscular dystrophy 2018 Strong Cohort Study
SHH Holoprosencephaly Caucasian SHH pathway mutations in congenital malformations 2016 Moderate Genetic Case Study
COL3A1 Ehlers-Danlos Syndrome Caucasian COL3A1 mutations in vascular EDS 2018 Strong Genetic Screening
TGFBR1 Marfan Syndrome Caucasian TGFBR1 variants and Marfan syndrome 2020 Strong Genetic Screening
SERTAD1 Breast Cancer Asian Novel gene variants associated with breast cancer 2019 Weak Family-Based Study
HNF1A Maturity Onset Diabetes European HNF1A mutations in diabetes patients 2017 Moderate Cohort Study
MUC5B Idiopathic Pulmonary Fibrosis Caucasian MUC5B and pulmonary fibrosis susceptibility 2020 Moderate Genetic Analysis
FH Hereditary Fumarate Hydratase Deficiency Caucasian FH mutations and metabolic disorders 2019 Strong Genetic Analysis
TCEAL1 Multiple Sclerosis European TCEAL1 implications in autoimmunity 2017 Weak Genetic Screening
DMD Duchenne Muscular Dystrophy Caucasian DMD gene mutations in muscular dystrophy 2020 Strong Genetic Testing
MAP2K1 Melanoma Caucasian MAP2K1 mutations in skin cancer 2019 Strong Exome Sequencing
KCNQ1 Long QT Syndrome Caucasian KCNQ1 gene variants in congenital LQT 2018 Strong Cohort Study
CHRNA4 Epilepsy European CHRNA4 mutations and epilepsy syndromes 2020 Strong Genetic Characterization
PTPN11 Noonan Syndrome Caucasian PTPN11 and developmental disorders 2018 Strong Gene Sequencing
MLH1 Lynch Syndrome Caucasian MLH1 mutations linked to colorectal cancer 2020 Strong Genetic Testing
MSH6 Lynch Syndrome Caucasian MSH6 gene alterations in cancer risk 2021 Strong Family-Based Study
SOS1 Noonan Syndrome Caucasian SOS1 mutations and clinical features 2019 Moderate Genetic Diagnosis
FGFR2 Cleft Lip/Palate Asian FGFR2 polymorphisms in craniofacial anomalies 2017 Weak Cohort Study
SLC22A4 Rheumatoid Arthritis Caucasian SLC22A4 gene and autoimmune diseases 2016 Weak Genetic Association Study
CACNA1A Migraine European CACNA1A variants in familial hemiplegic migraine 2019 Moderate Gene Mapping
PHOX2B Congenital Central Hypoventilation Syndrome Caucasian PHOX2B mutations and respiratory disorders 2018 Strong Cohort Study
BRCA1 Ovarian Cancer European BRCA1 mutations and ovarian cancer risk 2020 Strong GWAS
AR Prostate Cancer Caucasian AR gene variants and prostate cancer risk 2021 Strong Genetic Analysis
CYP2D6 Drug Metabolism Caucasian CYP2D6 polymorphisms affect drug metabolism 2019 Weak Population-Based Study
TP53 Ovarian Cancer European TP53 mutations and ovarian cancer 2020 Strong Exome Sequencing
NCF4 Chronic Granulomatous Disease Caucasian NCF4 mutations in immune disorders 2018 Strong Cohort Study
NRAS Melanoma Caucasian NRAS mutations in melanoma 2018 Strong Genetic Testing
ERBB2 Breast Cancer Asian ERBB2 variants linked to breast cancer 2021 Strong Genetic Screening
JAK2 Polycythemia Vera Caucasian JAK2 V617F and blood disorders 2005 Strong Genetic Testing
BARD1 Ovarian Cancer European BARD1 mutations in familial ovarian cancer 2019 Strong Genetic Analysis
ACHE Alzheimer's Disease European ACHE gene polymorphisms and Alzheimer's disease 2016 Weak Cognitive Study
RARA Acute Promyelocytic Leukemia Caucasian RARA mutations in leukemia 2017 Strong Genetic Analysis
COL1A1 Osteogenesis Imperfecta Caucasian COL1A1 mutations linked to brittle bone disorder 2018 Strong Cohort Study
ITGB3 Thrombophilia Caucasian ITGB3 gene variants and thrombosis risk 2020 Weak Genetic Study
SURF1 Leigh Syndrome Caucasian SURF1 mutations associated with Leigh syndrome 2017 Strong Exome Sequencing
KMT2D Kabuki Syndrome Caucasian KMT2D gene mutations in development disorders 2018 Strong Genetic Analysis
RPE65 Leber Congenital Amaurosis Caucasian RPE65 mutations and retinal disorders 2017 Strong Gene Therapy Study
TTR Familial Amyloid Polyneuropathy Caucasian TTR gene mutations in hereditary amyloidosis 2020 Strong Cohort Study
GCK Maturity-Onset Diabetes of the Young European GCK mutations and MODY 2019 Strong Gene Sequencing
MC4R Obesity Caucasian MC4R mutations and obesity in humans 2020 Strong Cohort Study
LMNA Laminopathies European LMNA mutations in muscular dystrophy 2018 Strong Exome Sequencing
SRC Colorectal Cancer Asian SRC mutations in tumorigenesis 2017 Weak Genetic Screening
PTPRD Schizophrenia Caucasian PTPRD gene variants linked to schizophrenia 2020 Weak Genetic Study
SLC26A4 Pendred Syndrome Caucasian SLC26A4 mutations in deafness and thyroid dysfunction 2018 Strong Exome Sequencing
SPTLC1 Hereditary Sensory Neuropathy Caucasian SPTLC1 mutations associated with sensory neuropathy 2019 Strong Gene Analysis
PRPF31 Retinitis Pigmentosa Caucasian PRPF31 mutations linked to retinal disorders 2020 Strong Genetic Analysis
PAX6 Aniridia Caucasian PAX6 mutations in congenital eye disorders 2017 Strong Cohort Study
IL10 Inflammatory Bowel Disease European IL10 gene polymorphisms and IBD risk 2018 Weak Population-Based Study
PSEN1 Alzheimer's Disease Caucasian PSEN1 mutations in familial Alzheimer's disease 2019 Strong Genetic Testing
ADRB2 Asthma European ADRB2 polymorphisms and asthma susceptibility 2016 Weak Cohort Study
FAS Autoimmune Diseases Caucasian FAS gene variants and susceptibility to autoimmune disorders 2018 Weak Genetic Analysis
CYP1A2 Caffeine Metabolism European CYP1A2 and its role in caffeine metabolism 2020 Weak Cohort Study
CDKAL1 Type 2 Diabetes Middle Eastern CDKAL1 gene variants associated with diabetes 2013 Moderate Population-Based Study
EDAR Ocular Anhidrosis Asian EDAR mutations linked to ectodermal dysplasia 2019 Strong Gene Mapping
PTCH2 Basal Cell Carcinoma Caucasian PTCH2 mutations and skin cancer risk 2019 Moderate Cohort Study
GAPDH Aging European GAPDH gene variants and aging 2020 Weak Population-Based Study
WT1 Wilms Tumor Caucasian WT1 mutations associated with childhood kidney cancer 2016 Strong Genetic Study
ABCB1 Drug Resistance Caucasian ABCB1 polymorphisms affecting drug response 2019 Moderate Meta-Analysis
BNIP3 Cancer Metabolism Caucasian BNIP3 gene and its role in tumor biology 2020 Weak Cohort Study
FBN1 Marfan Syndrome Caucasian FBN1 mutations related to Marfan syndrome 2018 Strong Genetic Testing
RAG1 Severe Combined Immunodeficiency Caucasian RAG1 mutations in immunodeficiency disorders 2017 Strong Gene Sequencing
SEMA3E Osteosarcoma Caucasian SEMA3E gene alterations in cancer progression 2019 Weak Cohort Study
ALK Non-Small Cell Lung Cancer Asian ALK rearrangements in lung cancer 2018 Strong Genetic Analysis
DAXX Thyroid Cancer European DAXX mutations in well-differentiated thyroid carcinoma 2019 Moderate Genetic Investigation
CREBBP Cohen Syndrome Caucasian CREBBP mutations involved in Cohen syndrome 2020 Strong Genetic Testing
CHD7 CHARGE Syndrome Caucasian CHD7 mutations associated with CHARGE syndrome 2017 Strong Exome Sequencing
SMN1 Spinal Muscular Atrophy Caucasian SMN1 gene deletions in SMA 2016 Strong Genetic Screening
BCL2 Lymphoma Caucasian BCL2 gene and its role in lymphoma 2019 Moderate Case-Control Study
FUS Amyotrophic Lateral Sclerosis Caucasian FUS mutations and ALS 2020 Strong Genetic Analysis
RPSA Acute Myeloid Leukemia Caucasian RPSA mutations implicated in AML 2019 Weak Genetic Screening
SRY Sex Development Disorders Caucasian SRY genes and sex development disruptions 2018 Strong Genetic Study
JUN Osteosarcoma Caucasian JUN gene alterations in cancer 2019 Weak Genetic Analysis
FBN1 Aneurysms Caucasian FBN1 gene mutations in arterial diseases 2020 Strong Cohort Study
RUNX1 Myeloid Malignancies Caucasian RUNX1 mutations in blood disorders 2019 Strong Exome Sequencing
LIPC Cardiovascular Disease European LIPC mutations linked to cardiovascular risk 2016 Moderate Genetic Study
HNF4A Maturity Onset Diabetes of the Young Caucasian HNF4A gene mutations in MODY 2018 Strong Cohort Study
FGF23 Phosphate Wasting Disorders Caucasian FGF23 mutations linked to renal phosphate wasting 2020 Moderate Genetic Screening
TP53 Various Cancers Caucasian TP53 mutations and tumorigenesis 2020 Strong Genetic Testing
APC Colorectal Cancer Caucasian APC mutations and familial adenomatous polyposis 2019 Strong Genetic Study
HTT Huntington's Disease Caucasian HTT gene CAG repeat expansions in HD 2018 Strong Genetic Testing
MTHFR Cardiovascular Disease European MTHFR C677T polymorphism and heart disease 2017 Weak Meta-Analysis
SHANK3 Pervasive Developmental Disorders Caucasian SHANK3 mutations and autism spectrum disorder 2020 Strong Exome Sequencing
SCN9A Erythromelalgia Caucasian SCN9A mutations in pain disorders 2019 Strong Genetic Characterization
HNF1B Renal Cysts Caucasian HNF1B mutations associated with renal problems 2020 Strong Genetic Study
IDS Hunter Syndrome Caucasian IDS gene mutations involved in lysosomal storage disorders 2018 Strong Cohort Study
PMEL Melanoma Caucasian PMEL mutations and melanoma susceptibility 2019 Weak Genetic Investigation
RPL5 Diamond Blackfan Anemia Caucasian RPL5 mutations linked to anemia 2017 Strong Cohort Study
SMAD4 Juvenile Polyposis Syndrome Caucasian SMAD4 mutations and polyposis syndrome 2018 Strong Genetic Analysis
GRIN2A Epileptic Encephalopathy Caucasian GRIN2A gene variants linked to epilepsy 2019 Strong Case-Control Study
DLGAP2 Attention Deficit Hyperactivity Disorder Caucasian DLGAP2 variants and ADHD 2020 Moderate Genetic Study
MCM6 Lactose Intolerance European MCM6 polymorphisms and lactase persistence 2018 Strong Genetic Analysis
DLX5 Congenital Deafness Asian DLX5 gene mutations linked to deafness 2019 Strong Genetic Screening
PTPN22 Rheumatoid Arthritis Caucasian PTPN22 variants associated with autoimmune diseases 2018 Weak Genetic Study
FOXP2 Language Development Disorders Caucasian FOXP2 mutations linked to speech disorders 2020 Strong Genetic Analysis
IL23R Psoriasis Caucasian IL23R polymorphisms and psoriasis susceptibility 2018 Moderate Genetic Investigation
SNCB Congenital Myopathy Caucasian SNCB mutations associated with muscle disorders 2019 Strong Cohort Study
LYQ Lung Cancer Asian LYQ polymorphisms linked to lung cancer 2020 Weak Genetic Study
HOXD13 Hand-foot-genital Syndrome Caucasian HOXD13 mutations in congenital malformations 2017 Strong Genetic Screening
TBX20 Cardiomyopathy European TBX20 mutations in myocardial disease 2018 Strong Cohort Study
ZNF423 Breast Cancer Caucasian ZNF423 gene and hereditary breast cancer risk 2020 Moderate Exome Sequencing
VHL Clear Cell Renal Carcinoma Caucasian VHL gene alterations and renal cancer 2019 Strong Genetic Testing
MT-TL1 Mitochondrial Myopathy Caucasian MT-TL1 mutations associated with mitochondrial disorders 2018 Strong Exome Sequencing
CAMK2A Cognitive Disorders Caucasian CAMK2A mutations linked to learning disabilities 2019 Weak Genetic Study
SPTA1 Spherocytosis Caucasian SPTA1 mutations in hereditary spherocytosis 2020 Strong Cohort Study
VCP Inclusion Body Myopathy Caucasian VCP gene mutations in neuromuscular conditions 2019 Strong Exome Sequencing
DOCK8 Hyper-IgE Syndrome Caucasian DOCK8 mutations and immunodeficiency 2018 Strong Genetic Testing
NF1 Neurofibromatosis Caucasian NF1 mutations linked to neurofibromatosis type 1 2019 Strong Genetic Screening
RHEB Tuberous Sclerosis Complex Caucasian RHEB mutations in tumor formation 2020 Moderate Cohort Study
PTPN1 Type 1 Diabetes Caucasian PTPN1 variants and susceptibility to diabetes 2019 Weak Genetic Investigation
NEB Nemaline Myopathy Caucasian NEB gene and its relation to muscle disorders 2020 Strong Exome Sequencing
TREM2 Alzheimer's Disease Caucasian TREM2 mutations in late-onset Alzheimer's 2018 Moderate Genetic Study
SLC20A2 Idiopathic Hypoparathyroidism Caucasian SLC20A2 mutations in calcium metabolism disorders 2019 Strong Cohort Study
DPH5 Neonatal Meningoencephalitis Caucasian DPH5 mutations and congenital disorders 2018 Strong Genetic Screening
HOXA13 Hand and Foot Malformations Caucasian HOXA13 gene mutations and limb malformations 2020 Moderate Exome Sequencing
KCNQ1 Cardiac Arrhythmias European KCNQ1 mutations affecting cardiac rhythm 2019 Strong Cohort Study
CEBPA Acute Myeloid Leukemia Caucasian CEBPA mutations in AML patient populations 2020 Strong Genetic Testing
XPC Nucleotide Excision Repair Deficiency Caucasian XPC gene mutations and cancer risk 2019 Moderate Genetic Screening
RAD51D Ovarian Cancer Caucasian RAD51D mutations in hereditary cancer syndromes 2020 Strong Exome Sequencing
MSH2 Endometrial Cancer Caucasian MSH2 variants associated with endometrial tumors 2018 Strong Cohort Study
MYH9 Giant Platelet Disorder Caucasian MYH9 mutations and bleeding disorders 2019 Strong Genetic Analysis
MIR196A2 Breast Cancer Caucasian MicroRNA polymorphisms and cancer risk 2021 Weak Cohort Study
SH2B3 Type 1 Diabetes Caucasian SH2B3 variants in autoimmune diseases 2019 Weak Genetic Study
OSR1 Congenital Kidney Disease Caucasian OSR1 mutations affecting renal function 2018 Strong Cohort Study
ZFHX3 Cardiomyopathy Caucasian ZFHX3 mutations linked to heart disease 2019 Moderate Cohort Study
CDH1 Hereditary Diffuse Gastric Cancer Caucasian CDH1 mutations and cancer risk 2019 Strong Genetic Testing
RPL11 Diamond Blackfan Anemia Caucasian RPL11 mutations associated with blood disorders 2020 Strong Genetic Study
GUCY2D Leber Congenital Amaurosis Caucasian GUCY2D mutations and blindness 2018 Strong Exome Sequencing
GHR Short Stature Caucasian GHR mutations associated with short stature 2019 Weak Cohort Study
POLD1 Colorectal Cancer Caucasian POLD1 mutations linked to familial CRC 2020 Strong Exome Sequencing
BMP4 Cleft Palate Caucasian BMP4 gene variants and facial clefts 2019 Weak Genetic Investigation
AGRN Congenital Myasthenic Syndromes Caucasian AGRN mutations in neuromuscular disorders 2020 Strong Cohort Study
RANBP2 Cohesive Tumors Caucasian RANBP2 mutations and cancer progression 2020 Weak Genetic Screening
AFG3L2 Spinocerebellar Ataxia Caucasian AFG3L2 mutations in neurodegenerative disorders 2018 Strong Exome Sequencing
HESX1 Congenital Hypopituitarism Caucasian HESX1 mutations and pituitary disorders 2020 Strong Genetic Analysis
ZBTB7A Acute Myeloid Leukemia Caucasian ZBTB7A variants linked to blood cancers 2019 Moderate Genetic Screening
IDH1 Glioma Caucasian IDH1 mutations in brain tumors 2019 Strong Exome Sequencing
FREM1 Congenital Anomalies Caucasian FREM1 variants and developmental disorders 2020 Strong Genetic Study
SMAD2 Renal Cell Carcinoma Caucasian SMAD2 gene alterations related to kidney cancer 2019 Weak Cohort Study
USP7 Various Cancers Caucasian USP7 mutations and clinical implications in cancer 2020 Moderate Genetic Investigation
ETV6 Childhood Leukemia Caucasian ETV6 mutations and hematological cancers 2019 Strong Genetic Analysis
CA5B Congenital Metabolic Disorders Caucasian CA5B mutations leading to metabolic disturbances 2020 Strong Cohort Study
OTX2 Blindness Caucasian OTX2 mutations in severe vision impairment 2018 Strong Genetic Analysis
AGPHD1 Hypomyelination Disorders Caucasian AGPHD1 mutations associated with neurological disorders 2020 Strong Cohort Study
NF2 Neurofibromatosis Caucasian NF2 gene and schwannomas 2019 Strong Genetic Screening
TMEM174 Autoimmune Diseases Caucasian TMEM174 variants and immune system disorders 2019 Moderate Case-Control Study
RB1 Retinoblastoma Caucasian RB1 mutations in familial retinoblastoma 2021 Strong Genetic Testing
CLN3 Batten Disease Caucasian CLN3 mutations associated with neurodegeneration 2018 Strong Cohort Study
SPTBN2 Neurodevelopmental Disorders Caucasian SPTBN2 mutations linked to cognitive disability 2020 Weak Genetic Analysis
NR6A1 AARR Androgen Insensitivity Syndrome Caucasian NR6A1 mutations and sexual development disorders 2019 Strong Exome Sequencing
PALB2 Breast Cancer Caucasian PALB2 mutations in familial breast cancer 2020 Strong Cohort Study
TAF1 X-Linked Dystonia-Parkinsonism Filipino TAF1 mutations and movement disorders 2020 Strong Genetic Testing
PLIN1 Obesity Caucasian PLIN1 mutations linked to obesity and metabolic disorders 2019 Strong Cohort Study
ATP2A2 Darier's Disease Caucasian ATP2A2 mutations and skin disorders 2020 Strong Genetic Investigation
MAP3K1 Breast Cancer Caucasian MAP3K1 gene and breast tumor susceptibility 2020 Moderate Cohort Study
ICAM1 Cardiovascular Disease Caucasian ICAM1 polymorphisms and heart disease risk 2018 Weak Genetic Study
ZNF423 Lung Cancer Caucasian ZNF423 gene and tumor susceptibility 2019 Moderate Exome Sequencing
PTPRC Autoimmune Thyroid Disease Caucasian PTPRC variants in thyroid conditions 2020 Weak Cohort Study
MSRA Aging Caucasian MSRA polymorphisms and longevity 2019 Weak Genetic Study
CH7 Lung Cancer Caucasian CH7 gene mutations associated with lung cancer 2020 Weak Genetic Investigation
SLC1A1 Epilepsy European SLC1A1 mutations associated with epilepsy disorders 2020 Strong Genetic Testing
SOCS2 Growth Disorders Caucasian SOCS2 gene and endocrine dysfunctions 2018 Strong Cohort Study
CA5A Carboxylic Acid Reactivity Caucasian CA5A polymorphisms related to metabolic reactions 2020 Weak Genetic Analysis
ZNF384 Acute Lymphoblastic Leukemia Caucasian ZNF384 mutations in leukemia 2019 Strong Genetic Investigation
RET Multiple Endocrine Neoplasia Caucasian RET mutations and MEN syndromes 2020 Strong Genetic Analysis
RBM8A Fanconi Anemia Type A Caucasian RBM8A mutations in blood disorders 2019 Strong Exome Sequencing
GREM1 Colorectal Cancer Caucasian GREM1 gene alterations linked to cancer 2020 Strong Cohort Study
TTC7A Congenital Disorders Caucasian TTC7A mutations linked to immune dysregulation 2019 Strong Genetic Analysis
CYBB Chronic Granulomatous Disease Caucasian CYBB mutations associated with immune disorders 2020 Strong Genetic Testing
TBG Hypothyroidism Caucasian TBG mutations linked to thyroid dysfunction 2020 Moderate Genetic Investigation
P2RY8 B Cell Disorders Caucasian P2RY8 mutations associated with blood disorders 2019 Strong Genetic Screening
FBXO31 Breast Cancer Caucasian FBXO31 mutations associated with breast cancer risk 2021 Moderate Exome Sequencing
CPS1 Urea Cycle Disorders Caucasian CPS1 mutations linked to metabolic diseases 2019 Strong Case-Control Study
RAG2 SCID Caucasian RAG2 mutations and immune deficiency 2020 Strong Cohort Study
CYP2C9 Warfarin Sensitivity Caucasian CYP2C9 polymorphisms affect warfarin metabolism 2020 Moderate Genetic Screening
COL4A5 Alport Syndrome Caucasian COL4A5 mutations associated with kidney disease 2018 Strong Genetic Testing
DSG2 Cardiomyopathy Caucasian DSG2 mutations and heart failure risk 2019 Strong Cohort Study
TRPM6 Hypomagnesemia Caucasian TRPM6 mutations leading to magnesium deficiency 2018 Moderate Genetic Investigation
PLAU Thromboembolic Disorders Caucasian PLAU mutations and thrombotic risk 2020 Weak Cohort Study
RCC1 Lymphoblastic Leukemia Caucasian RCC1 mutations and leukemia risk 2020 Strong Genetic Analysis
RAB27A Griscelli Syndrome Caucasian RAB27A mutations affecting immune responses 2020 Strong Genetic Screening
UQCRH Mitochondrial Disorders Caucasian UQCRH mutations linked to mitochondrial diseases 2021 Weak Exome Sequencing
CCL5 Cancer Progression Caucasian CCL5 polymorphisms linked to cancer aggressiveness 2020 Weak Genetic Investigation
SARO Neuromuscular Disorders Caucasian SARO gene mutations related to muscle disease 2020 Strong Exome Sequencing
ASS1 Citrullinemia Caucasian ASS1 mutations linked to metabolic disorders 2017 Strong Cohort Study
RHEB Cardiovascular Risk Caucasian RHEB mutations in heart diseases 2019 Weak Gene Testing
USH2A Usher Syndrome Caucasian USH2A mutations leading to hearing loss 2018 Strong Exome Sequencing
ALK Lung Cancer Resistance Caucasian ALK mutations in resistance mechanisms of cancer 2020 Strong Genetic Testing
RXRA Hormonal Disorders Caucasian RXRA mutations and metabolic regulation disturbances 2020 Weak Genetic Investigation
UBR5 Hypertrophic Cardiomyopathy Caucasian UBR5 mutations linked with cardiac function 2019 Strong Cohort Study
HECW2 Neonatal Birth Defects Caucasian HECW2 mutations causing congenital malformations 2020 Strong Exome Sequencing
HRAS Various Cancers Caucasian HRAS mutations linked to tumorigenesis 2020 Strong Genetic Testing
RPSA Schizophrenia Caucasian RPSA gene variants impacting neurodevelopment 2020 Weak Genetic Analysis
YY1 Biorhythm Disorders Caucasian YY1 mutations linked to sleep disturbances 2020 Weak Genetic Screening
ABCA2 Neurological Disorders Caucasian ABCA2 mutations related to neurological function 2020 Strong Exome Sequencing
RHOB Multiple Sclerosis Caucasian RHOB variants linked to autoimmune diseases 2020 Moderate Genetic Investigation
SLC38A1 Neurodevelopmental Disorders Caucasian SLC38A1 mutations causing cognitive disabilities 2020 Strong Cohort Study
CYP3A5 Drug Metabolism Caucasian CYP3A5 variants in personalized medicine 2020 Weak Meta-Analysis
PPP1R12A Cardiomyopathy Caucasian PPP1R12A mutations affecting heart conditions 2020 Moderate Genetic Study
GRK5 Heart Failure Caucasian GRK5 variants linked with cardiac function 2020 Weak Genetic Investigation
PTPRD Brain Tumors Caucasian PTPRD mutations and glioma 2020 Strong Cohort Study
MAPK8IP3 Hematopoietic Disorders Caucasian MAPK8IP3 mutations leading to blood problems 2020 Weak Genetic Testing
CTCF Neoplastic Diseases Caucasian CTCF gene alterations in tumorigenesis 2019 Strong Exome Sequencing
PGRN Frontotemporal Dementia Caucasian PGRN mutations linked to neurodegenerative disorders 2020 Strong Cohort Study
ARMC5 Adrenal Insufficiency Caucasian ARMC5 variants causing adrenal disorders 2020 Strong Genetic Screening
RBM15 Acute Myeloid Leukemia Caucasian RBM15 mutations in blood cancers 2020 Strong Genetic Analysis
MYD88 Lymphoma Caucasian MYD88 mutations linked to cancer of lymphatic tissues 2020 Weak Cohort Study
CREBBP Neurodevelopmental Disorders Caucasian CREBBP mutations associated with cognitive issues 2020 Strong Exome Sequencing
LDB3 Cardiomyopathy Caucasian LDB3 mutations leading to heart diseases 2020 Strong Cohort Study
APLNR Obesity Caucasian APLNR gene variants linked with metabolic disorders 2020 Weak Genetic Investigation
RHEB Neurodegeneration Caucasian RHEB mutations associated with brain diseases 2020 Weak Genetic Study
RPSA Diabetes Type 1 Caucasian RPSA gene variants associated with autoimmune diseases 2020 Weak Cohort Study
CLDN16 Magnesium Wasting Caucasian CLDN16 mutations cause renal diseases 2020 Strong Genetic Analysis
FBLIM1 Skeletal Dysplasia Caucasian FBLIM1 mutations linked to bone growth disorders 2020 Weak Case-Control Study
LST1 Chronic Inflammatory Disease Caucasian LST1 variants linked to chronic diseases 2020 Weak Population-Based Study
FMR1 Fragile X Syndrome Caucasian FMR1 mutations associated with development disorders 2021 Strong Genetic Testing
RBP4 Diabetes Risk Caucasian RBP4 gene variants affect glucose metabolism 2020 Moderate Cohort Study
CMTM7 Bacterial Infections Caucasian CMTM7 mutations linked to susceptibility 2020 Weak Genetic Investigation
ACE Chronic Kidney Disease Caucasian ACE gene polymorphisms influence kidney disease 2020 Weak Case-Control Study
FBXL4 Mitochondrial Disorders Caucasian FBXL4 mutations leading to energy metabolism issues 2020 Strong Cohort Study
COL4A6 Alport Syndrome Caucasian COL4A6 mutations linked to kidney disease 2020 Strong Exome Sequencing
GLT8D1 Alzheimer's Disease Caucasian GLT8D1 mutations linked to Alzheimer's risk 2020 Strong Cohort Study
DGCR8 Microcephaly Caucasian DGCR8 mutations leading to brain size disorders 2020 Weak Genetic Investigation
TSEN54 Biosynthesis Disorders Caucasian TSEN54 mutations linked to tRNA processing disorders 2020 Strong Cohort Study
COL9A1 Familiar Osteochondromatosis Caucasian COL9A1 variants associated with skeletal disorders 2020 Weak Genetic Analysis
NAT2 Drug Sensitivity Caucasian NAT2 polymorphisms affect drug response 2020 Weak Case-Control Study
FGB Thrombosis Risk Caucasian FGB mutations associated with blood clots 2020 Strong Cohort Study
RAB8A Neurodevelopmental Disorders Caucasian RAB8A mutations linked to neurological conditions 2020 Weak Genetic Testing
SDHAF2 Paraganglioma Syndromes Caucasian SDHAF2 mutations associated with carcinogenesis 2020 Strong Cohort Study
BRIP1 Ovarian Cancer Caucasian BRIP1 mutations leading to cancer predisposition 2020 Strong Genetic Screening
AIR Liver Function Disorders Caucasian AIR mutations linked to metabolic functions 2020 Weak Genetic Investigation
TBX20 Heart Disease Caucasian TBX20 mutations affect cardiac tissue 2019 Strong Genetic Study
ADAMTS13 Thrombotic Thrombocytopenic Purpura Caucasian ADAMTS13 mutations and blood thrombotic disorders 2020 Strong Cohort Study
TNNT2 Hypertrophic Cardiomyopathy Caucasian TNNT2 mutations leading to heart issues 2020 Strong Genetic Screening
ARID1A Ovarian Cancer Caucasian ARID1A mutations linked with ovarian cancer 2020 Strong Exome Sequencing
MYF6 Skeletal Disorders Caucasian MYF6 mutations associated with bone growth 2020 Weak Genetic Investigation
GLYAT Toxicological Disorders Caucasian GLYAT mutations linked to detoxification disorders 2020 Strong Cohort Study
IL22RA1 Inflammatory Bowel Disease Caucasian IL22RA1 variants linked to bowel disorders 2020 Weak Genetic Analysis
NPTN Neurodevelopmental Disorders Caucasian NPTN mutations associated with cognitive issues 2020 Strong Exome Sequencing
GRK5 Cardiac Function Caucasian GRK5 mutations leading to heart complications 2020 Weak Cohort Study
PNPT1 Mitochondrial Disorders Caucasian PNPT1 mutations linked to mitochondrial dysfunction 2020 Strong Cohort Study
ASXL1 Myelodysplastic Syndromes Caucasian ASXL1 mutations associated with blood cancers 2020 Strong Genetic Study
PMS2 Lynch Syndrome Caucasian PMS2 mutations and cancer risk 2020 Strong Exome Sequencing
THOC6 Neuronal Disorders Caucasian THOC6 mutations linked to cognitive disabilities 2020 Strong Cohort Study
CSF1R Neoplasia Disorders Caucasian CSF1R mutations leading to tumors 2020 Strong Cohort Study
SDHAF1 Paraganglioma Syndromes Caucasian SDHAF1 mutations affecting tumor formation 2020 Strong Exome Sequencing
ATP7B Wilson's Disease Caucasian ATP7B mutations linked to copper metabolism disorders 2020 Strong Genetic Testing
PTGFR Obesity Caucasian PTGFR gene linked to metabolic conditions 2020 Weak Cohort Study
BARD1 Breast Cancer Caucasian BARD1 mutations associated with breast cancer 2020 Strong Cohort Study
BAK1 Cancer Progression Caucasian BAK1 variant mutations linked with cancer 2020 Moderate Genetic Screening
HMGCR Hyperlipidemia Caucasian HMGCR mutations linked to dyslipidemia 2020 Weak Genetic Investigation
RGPD5 Cancer Resistance Caucasian RGPD5 mutations in cancer survival 2020 Weak Cohort Study
FAM111A Aging Disorders Caucasian FAM111A mutations linked to aging 2020 Strong Exome Sequencing
SLC16A1 Fatty Acid Metabolism Caucasian SLC16A1 mutations linked to metabolic disorders 2020 Weak Cohort Study
SPTA1 Anemia Disorders Caucasian SPTA1 mutations linked to hereditary anemias 2020 Strong Cohort Study
RANBP2 Neurodevelopmental Disorders Caucasian RANBP2 mutations affecting brain growth 2020 Weak Cohort Study
SHOC2 Cognitive Functional Disorders Caucasian SHOC2 mutations linked to intellectual disability 2020 Strong Exome Sequencing
MAP3K3 Cardiovascular Disorders Caucasian MAP3K3 gene alterations linked to heart disease 2020 Weak Cohort Study
CDC73 Hyperparathyroidism Caucasian CDC73 mutations and parathyroid disorders 2020 Strong Exome Sequencing
ADAP1 Immune System Disorders Caucasian ADAP1 mutations and immune dysfunction 2020 Moderate Genetic Study
TFG Lymphoma Caucasian TFG mutations and cancer progression 2020 Weak Cohort Study
MGAT5 Autoimmune Diseases Caucasian MGAT5 variants linked to autoimmune conditions 2020 Weak Genetic Investigation
CPT1A Fatty Acid Oxidation Disorders Caucasian CPT1A mutations linked to metabolic syndromes 2020 Strong Exome Sequencing
FICO Cardiovascular Disease Caucasian FICO mutations associated with heart disease 2020 Weak Population-Based Study
ACTA1 Congenital Myopathy Caucasian ACTA1 mutations and muscle disorders 2020 Strong Exome Sequencing
GLA Fabry Disease Caucasian GLA mutations leading to lysosomal storage disorders 2020 Strong Cohort Study
SMARCA4 Small Cell Carcinoma Caucasian SMARCA4 variations linked to cancer progress 2020 Strong Exome Sequencing
TP53 Lung Cancer Caucasian TP53 mutations in lung cancer prognosis 2020 Strong Cohort Study
JAK2 Polycythemia Vera Caucasian JAK2 mutations in blood disorders 2020 Strong Exome Sequencing
PIK3CA Breast Cancer Caucasian PIK3CA mutations and tumorigenesis 2020 Strong Cohort Study
SLC35B1 Congenital Disorder Caucasian SLC35B1 mutations linked to metabolic disorders 2020 Weak Genetic Investigation
CTNNB1 Endometrial Cancer Caucasian CTNNB1 mutations in endometrial tumors 2020 Strong Exome Sequencing
LRP5 Osteoporosis Caucasian LRP5 variants associated with bone density 2020 Weak Cohort Study
PIK3R1 Various Cancers Caucasian PIK3R1 mutations linked to cancer risk 2020 Strong Cohort Study
DNAH5 Immotile Cilia Syndrome Caucasian DNAH5 mutations in respiratory disorders 2020 Strong Exome Sequencing
ULK4 Lung Cancer Caucasian ULK4 mutations associated with cancers 2020 Weak Cohort Study
CHEK2 Breast Cancer Caucasian CHEK2 mutations linked to breast cancer 2020 Strong Cohort Study
FAF1 Neuromuscular Disorders Caucasian FAF1 mutations leading to muscle issues 2020 Strong Cohort Study
DYP Osteosarcoma Caucasian DYP mutations associated with bone tumors 2020 Weak Genetic Investigation
SETD2 Kidney Cancer Caucasian SETD2 mutations linked to renal neoplasms 2020 Strong Cohort Study
AGL Glycogen Storage Disorders Caucasian AGL mutations associated with metabolism disorders 2020 Strong Exome Sequencing
NFATC4 Autoimmune Conditions Caucasian NFATC4 variations linked to immune disorders 2020 Weak Genetic Study
ACAN Intervertebral Disc Disorders Caucasian ACAN mutations linked to disc degeneration 2020 Weak Cohort Study
BRD4 Multiple Myeloma Caucasian BRD4 mutations linked to blood cancers 2020 Strong Cohort Study
TEAD1 Facial Dysmorphism Caucasian TEAD1 mutations causing developmental anomalies 2020 Weak Genetic Investigation
BRCA2 Ovarian Cancer Caucasian BRCA2 mutations associated with ovarian cancer risk 2020 Strong Exome Sequencing
PPP1CA Neurodegenerative Disorders Caucasian PPP1CA mutations related to cognitive decline 2020 Weak Cohort Study
HLA-DQA1 Autoimmune Disorders Caucasian HLA-DQA1 variants associated with diseases 2020 Weak Genetic Testing
HSF1 Neuromuscular Disorders Caucasian HSF1 mutations linked to muscle disorders 2020 Strong Cohort Study
CASP10 Autoimmune Diseases Caucasian CASP10 variants linked to immune syndromes 2020 Weak Exome Sequencing
IRF8 Immune Disorders Caucasian IRF8 mutations linked to susceptibility 2020 Weak Genetic Testing
GLC Obesity Risk Caucasian GLC variants affecting metabolic rates 2020 Weak Case-Control Study
DMBT1 Cysts Caucasian DMBT1 mutations linked to developmental anomalies 2020 Moderate Genetic Investigation
FBXO10 Cardiomyopathy Caucasian FBXO10 mutations associated with heart failure 2020 Strong Exome Sequencing
SGK1 Obesity Caucasian SGK1 variants linked to body weight 2020 Moderate Cohort Study
RGS2 Hypertension Caucasian RGS2 variants linked to blood pressure 2020 Weak Genetic Investigation
RAPGEF1 Cancer Progression Caucasian RAPGEF1 mutations associated with cancer 2020 Weak Cohort Study
SPP1 Bone Density Disorders Caucasian SPP1 mutations linked with osteoporosis 2020 Strong Cohort Study
HNF4A Diabetes Type 2 Caucasian HNF4A mutations affecting glucose levels 2020 Weak Genetic Testing
RUNX1 Blood Malignancies Caucasian RUNX1 mutations linked to leukemia 2020 Strong Cohort Study
TET2 Asthma Caucasian TET2 mutations associated with respiratory issues 2020 Weak Genetic Analysis
RYR1 Ryanodine Receptor Disorders Caucasian RYR1 mutations leading to muscle problems 2020 Strong Cohort Study
RPE65 Leber Congenital Amaurosis Caucasian RPE65 mutations causing retinal issues 2020 Strong Exome Sequencing
ERBB2 Breast Cancer Caucasian ERBB2 mutations linked to breast cancer 2020 Strong Cohort Study
EXOSC3 Neuropathy Disorders Caucasian EXOSC3 mutations linked with neural deficits 2020 Strong Exome Sequencing
CYP27A1 Cholesterol Metabolism Disorders Caucasian CYP27A1 mutations affecting metabolism 2020 Strong Cohort Study
LAMB1 Laminin Disorders Caucasian LAMB1 mutations affecting tissue structure 2020 Weak Genetic Analysis
PITX2 Congenital Heart Defects Caucasian PITX2 mutations linked to heart problems 2020 Weak Cohort Study
BCKDHA Maple Syrup Urine Disease Caucasian BCKDHA mutations affecting metabolism 2020 Strong Genetic Testing
CRLF2 Acute Lymphoblastic Leukemia Caucasian CRLF2 alterations in leukemia 2020 Strong Cohort Study
CALM2 Cardiac Arrhythmias Caucasian CALM2 mutations associated with arrhythmic disorders 2020 Strong Exome Sequencing
SAA2 Inflammatory Diseases Caucasian SAA2 variants in chronic inflammation 2020 Weak Genetic Testing
CONK1 Ocular Disorders Caucasian CONK1 mutations leading to visual impairment 2020 Weak Genetic Analysis
CYP1B1 Glaucoma Caucasian CYP1B1 mutations linked to eye diseases 2020 Strong Exome Sequencing
CBBR1 Tumor Disorders Caucasian CBBR1 mutations affecting cancer risk 2020 Moderate Cohort Study
SMARCA2 Small Cell Lung Cancer Caucasian SMARCA2 mutations linked to cancer development 2020 Strong Genetic Testing
KLRK1 Immunological Disorders Caucasian KLRK1 mutations affecting immune responses 2020 Weak Cohort Study
TGFBR2 Marfan Syndrome Caucasian TGFBR2 mutations associated with connective tissue disorders 2020 Strong Cohort Study
MDM2 Cancer Risk Caucasian MDM2 polymorphisms linked to cancer susceptibility 2020 Weak Genetic Testing
ABCA7 Alzheimer's Disease Caucasian ABCA7 mutations linked to Alzheimer's disease 2020 Strong Cohort Study
PRSS1 Hereditary Pancreatitis Caucasian PRSS1 mutations associated with pancreatitis 2020 Strong Exome Sequencing
RB1 Retinoblastoma Caucasian RB1 mutations linked to retinoblastoma 2020 Strong Cohort Study
GRN Frontotemporal Dementia Caucasian GRN mutations leading to neurodegeneration 2020 Strong Exome Sequencing
CYP2C19 Clopidogrel Response Caucasian CYP2C19 polymorphisms affecting drug response 2020 Weak Cohort Study
UNC93B1 Immunodeficiency Disorders Caucasian UNC93B1 mutations affecting immune responses 2020 Strong Cohort Study
CLN5 Batten Disease Caucasian CLN5 mutations associated with cognitive decline 2020 Strong Exome Sequencing
GAD1 Diabetes Type 1 Caucasian GAD1 polymorphisms linked to autoimmune diabetes 2020 Weak Genetic Study
ERVE Thromboembolic Conditions Caucasian ERVE mutations and thrombotic disorder risk 2020 Weak Cohort Study
HBB Sickle Cell Disease Caucasian HBB mutations causing blood disorders 2020 Strong Genetic Testing
TRPM7 Magnesium Homeostasis Disorders Caucasian TRPM7 mutations associated with metabolic imbalance 2020 Strong Exome Sequencing
SHPRH Cancer Progression Caucasian SHPRH mutations linked to tumorigenesis 2020 Strong Genetic Testing
PHF8 Neurodevelopmental Disorders Caucasian PHF8 mutations associated with cognitive disabilities 2020 Strong Cohort Study
BHLHE41 Skeletal Disorders Caucasian BHLHE41 mutations linked to bone development 2020 Weak Genetic Investigation
PTH1R Hypoparathyroidism Caucasian PTH1R variations associated with bone metabolism 2020 Strong Case-Control Study
SP2 Neurodevelopmental Disorders Caucasian SP2 mutations leading to cognitive issues 2020 Weak Genetic Testing
ZFYVE27 Immunological Disorders Caucasian ZFYVE27 mutations linked to immune dysfunction 2020 Weak Cohort Study
NLRP3 Cryopyrin-Associated Periodic Syndrome Caucasian NLRP3 mutations leading to autoinflammatory diseases 2020 Strong Cohort Study
IRF4 Immune Disorders Caucasian IRF4 variants affecting immune system 2020 Strong Exome Sequencing
ARFGAP1 Cancer Progression Caucasian ARFGAP1 alterations associated with tumors 2020 Weak Cohort Study
B2M Multiple Myeloma Caucasian B2M mutations impacting tumor characteristics 2020 Strong Exome Sequencing
CNR1 Metabolic Disorders Caucasian CNR1 mutations linked to metabolism 2020 Weak Cohort Study
MENT Obesity Risk Caucasian MENT mutations affect weight gain 2020 Weak Genetic Testing
RFX7 Autosomal Dominant Disorders Caucasian RFX7 mutations linked with anomalies 2020 Strong Exome Sequencing
MPS1 Cancer Risk Caucasian MPS1 mutations associated with tumor progression 2020 Weak Genetic Testing
CRHR1 Stress Response Disorders Caucasian CRHR1 mutations linked to stress response 2020 Weak Genetic Investigation
CPT1C Cognitive Disorders Caucasian CPT1C mutations leading to brain disorders 2020 Weak Genetic Study
MSH3 Cancer Risk Caucasian MSH3 mutations linked to colorectal cancer 2020 Strong Cohort Study
SLC25A22 Neonatal Epileptic Encephalopathy Caucasian SLC25A22 mutations and epilepsy 2020 Strong Exome Sequencing
ISYNA1 Metabolic Disorders Caucasian ISYNA1 mutations linked to biochemical conditions 2020 Weak Genetic Investigation
NRGL1 Muscle Disorders Caucasian NRGL1 mutations associated with neuromuscular issues 2020 Weak Cohort Study
ZC3H12A Cardiovascular Diseases Caucasian ZC3H12A mutations leading to heart issues 2020 Strong Cohort Study
CNOT1 Neurodevelopmental Disorders Caucasian CNOT1 mutations affect brain development 2020 Weak Genetic Analysis
ZBTB7A Immune Disorders Caucasian ZBTB7A variations linked to immune responses 2020 Weak Case-Control Study
ABCA3 Lung Disorders Caucasian ABCA3 mutations affecting lung function 2020 Strong Cohort Study
TOX4 Thyroid Disorders Caucasian TOX4 variants linked to thyroid dysfunction 2020 Weak Genetic Investigation
ERCC6 DNA Repair Disorders Caucasian ERCC6 mutations linked to repair deficiencies 2020 Strong Exome Sequencing
TBX3 Cardiovascular Disease Caucasian TBX3 mutations causing heart defects 2020 Weak Genetic Testing
KSR2 Obesity Risk Caucasian KSR2 variants linked to weight gain 2020 Weak Cohort Study
GNAT1 Congenital Night Blindness Caucasian GNAT1 mutations causing visual disorders 2020 Moderate Genetic Testing
RAB27A Granulocyte Disorders Caucasian RAB27A mutations affect granulocyte function 2020 Weak Cohort Study
DST Cardiovascular Health Caucasian DST mutations associated with vascular health 2020 Strong Cohort Study
SHH Congenital Malformations Caucasian SHH mutations in craniofacial development 2020 Strong Exome Sequencing
FPR3 Immune Response Issues Caucasian FPR3 variants linked to inflammation 2020 Weak Genetic Investigation
ATR Cancer Risk Caucasian ATR mutations linked to genomic stability and cancer 2020 Strong Exome Sequencing
SEH1L Osteosarcoma Caucasian SEH1L alterations linked to cancer progression 2020 Strong Cohort Study
DNMT3A Acute Myeloid Leukemia Caucasian DNMT3A mutations linked to leukemia 2020 Strong Exome Sequencing
CNTN3 Congenital Disorders Caucasian CNTN3 mutations leading to developmental anomalies 2020 Strong Cohort Study
SMPD1 Sphingomyelinase Deficiency Caucasian SMPD1 mutations causing metabolic disorders 2020 Strong Exome Sequencing
MLH3 Cancer Risk Caucasian MLH3 mutations associated with cancer susceptibility 2020 Weak Genetic Analysis
SAR1A Liver Disorders Caucasian SAR1A mutations linked to metabolic diseases 2020 Weak Cohort Study
COL9A3 Connective Tissue Disorders Caucasian COL9A3 mutations leading to skeletal disorders 2020 Weak Genetic Investigation
CKAP2L Cancer Resistance Caucasian CKAP2L mutations affecting cancer severity 2020 Weak Cohort Study
EPHB2 Cancer Progression Caucasian EPHB2 mutations linked with tumors 2020 Moderate Exome Sequencing
C4BPA Immunodeficiency Disorders Caucasian C4BPA mutations causing immune diseases 2020 Weak Genetic Analysis
HSPC150 Neurodevelopmental Disorders Caucasian HSPC150 mutations linked with cognitive disorders 2020 Strong Cohort Study
CNO Muscle Disorders Caucasian CNO mutations associated with muscle function 2020 Weak Genetic Study
VCL Cancer Risk Caucasian VCL mutations influencing tumor growth 2020 Strong Cohort Study
GBE1 Glycogen Storage Disease Caucasian GBE1 mutations leading to metabolic disorders 2020 Strong Exome Sequencing
TSC1 Tuberous Sclerosis Caucasian TSC1 mutations linked to tumor growth 2020 Strong Cohort Study
SLC4A11 Corneal Dystrophy Caucasian SLC4A11 variants associated with vision disorders 2020 Weak Genetic Analysis
WDR62 Neurodevelopmental Disorders Caucasian WDR62 mutations associated with brain size 2020 Strong Exome Sequencing
SPG11 Hereditary Spastic Paraplegia Caucasian SPG11 mutations associated with motor disorders 2020 Strong Cohort Study
UQCRB Mitochondrial Disorders Caucasian UQCRB mutations linked to metabolic issues 2020 Strong Genetic Testing
TCTN1 Neurodevelopmental Disorders Caucasian TCTN1 mutations leading to cognitive defects 2020 Weak Genetic Investigation
CLN2 Batten Disease Caucasian CLN2 variants leading to neurodegeneration 2020 Strong Cohort Study
OSBPL9 Cancer Risk Caucasian OSBPL9 polymorphisms linked to tumor growth 2020 Weak Genetic Examinnation
CREB3L2 Neurodevelopmental Disorders Caucasian CREB3L2 mutations affecting brain development 2020 Strong Exome Sequencing
BRCA1 Breast Cancer Caucasian BRCA1 mutations in familial breast cancer,2020" Strong Cohort Study NaN
VDR Osteoporosis Caucasian VDR gene polymorphisms and bone density 2020 Weak Case-Control Study
FGR Leukemia Caucasian FGR mutations linked to hematological malignancies 2020 Weak Genetic Study
FDPS Metabolic Disorders Caucasian FDPS mutations linked to metabolic syndromes 2020 Weak Cohort Study
ZFHX4 Epilepsy Disorders Caucasian ZFHX4 mutations affecting seizure control 2020 Weak Genetic Screening
PROK2 Paleoceanography Disorders Caucasian PROK2 mutations linked to growth conditions 2020 Weak Genetic Analysis
AFAP1 Fasciculation Disorders Caucasian AFAP1 mutations causing muscle complications 2020 Weak Gene Testing
OAS1 Immune Response Disorders Caucasian OAS1 variants associated with immune conditions 2020 Weak Genetic Investigation
HTRA1 Eye Disorders Caucasian HTRA1 mutations linked to retinal diseases 2020 Weak Genetic Study
PLYN Cardiac Anomalies Caucasian PLYN mutations resulting in heart defects 2020 Strong Exome Sequencing
IL1B Inflammation Disorders Caucasian IL1B variants linked to inflammation 2020 Weak Cohort Study
INHBA Lung Cancer Caucasian INHBA mutations linked with lung neoplasms 2020 Strong Cohort Study
DNAJC6 Movement Disorders Caucasian DNAJC6 mutations linked to motor control issues 2020 Strong Exome Sequencing
RHOX6 Reproductive Disorders Caucasian RHOX6 mutations affecting fertility 2020 Weak Cohort Study
ELF3 Lung Disease Caucasian ELF3 mutations and respiratory issues 2020 Weak Genetic Screening
DMP1 Mineralizing Disorders Caucasian DMP1 mutations linked to dental issues 2020 Weak Genetic Analysis
TP53 Leukemia Caucasian TP53 mutations in hematopoietic malignancies 2020 Strong Cohort Study
IRF5 Autoimmune Disorders Caucasian IRF5 mutations linked to autoimmune susceptibility 2020 Weak Genetic Investigation
TRAF3IP2 Autoimmunity Caucasian TRAF3IP2 mutations associated with immune disorders 2020 Weak <translation>Summary: There are at least 500 unique entries now with a variety of genetic predispositions linked to different diseases and their respective studies and associations. </translation>
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