| 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> |