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Phenotype profile

infertility

SaudiVarKB evidence summary derived from retained literature mentions.

157Phenotype mentions
100Publications
50Associated gene records
50Associated variant records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
CFTRHGNC:188444
DCAF17HGNC:2578433
WT1HGNC:1279622
ARHGNC:64422
MTHFRHGNC:743622
PGDHGNC:889122
FSHRHGNC:396922
FTOHGNC:2467822
LARS2HGNC:1709522
HOXA10HGNC:510022
TLE6HGNC:3078822
ZP1HGNC:1318722
SYCP3HGNC:1813022
PAHHGNC:858211
CYP11A1HGNC:259011
NLRP3HGNC:1640011
CD40HGNC:1191911
TGHGNC:1176411
TFRCHGNC:1176311
G6PDHGNC:405711
PTENHGNC:958811
MTM1HGNC:744811
SQSTM1HGNC:1128011
AGLHGNC:32111
ABCB1HGNC:4011
LDLRHGNC:654711
CTNNB1HGNC:251411
VEGFAHGNC:1268011
BRAFHGNC:109711
BRCA1HGNC:110011
H19HGNC:471311
CXCR2HGNC:602711
STSHGNC:1142511
CCNOHGNC:1857611
CCR5HGNC:160611
CLPPHGNC:208411
BRCA2HGNC:110111
ASPMHGNC:1904811
ATG5HGNC:58911
NEBHGNC:772011
ATP8B1HGNC:370611
EGFRHGNC:323611
ESR1HGNC:346711
NFE2HGNC:778011
SLC2A1HGNC:1100511
DNAH11HGNC:294211
IGF2HGNC:546611
IPO8HGNC:985311
CD44HGNC:168111
BAXHGNC:95911

Associated variant records

Co-mentioned in the same publications
VariantIdentifier / contextArticlesMentions
C677TC677T11
rs1800629rs180062911
rs2230054rs223005411
rs333rs33311
rs12970134rs1297013411
rs17782313rs1778231311
p.W577Cp.W577C11
G894TG894T11
p.Lys1154Glnp.Lys1154Gln11
c.1154G>Ac.1154G>A11
p.Arg385Glnp.Arg385Gln11
R385QR385Q11
p.Tyr364Hisp.Tyr364His11
rs10434rs1043411
rs3025053rs302505311
rs699947rs69994711
rs2010963rs201096311
rs833061rs83306111
rs25648rs2564811
rs1583384537rs158338453711
rs1450198518rs145019851811
rs78255744rs7825574411
rs1463893698rs146389369811
rs766843910rs76684391011
rs104893956rs10489395611
rs140630557rs14063055711
rs1596423459rs159642345911
rs1596405923rs159640592311
rs762454979rs76245497911
rs1384121511rs138412151111
rs1554259481rs155425948111
rs188957694rs18895769411
rs755667747rs75566774711
rs1467954450rs146795445011
rs6166rs616611
rs2296545rs229654511
p.Phe191Leup.Phe191Leu11
1799T>A1799T>A11
rs1801272rs180127211
1799A>T1799A>T11
rs17817449rs1781744911
rs1421085rs142108511
rs8050136rs805013611
p.Glu50Alap.Glu50Ala11
c.1408G>Ac.1408G>A11
c.4389G>Ac.4389G>A11
c.2562T>Gc.2562T>G11
c.869+11C>Tc.869+11C>T11
c.2909-92G>Ac.2909-92G>A11
c.3469-65C>Ac.3469-65C>A11

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Saudi Arabia33
Saudi Arabia · Riyadh33
Population recordCohort 233
Saudi Arabia · Jeddah33
Saudi Arabia22
Population recordCohort 322
Population recordCohort 122
Population recordCohort 4022
Saudi Arabia · Asir22
Saudi ArabiaCohort 9522
Population record11
Saudi ArabiaCohort 8811
Population recordCohort 1111
Saudi ArabiaCohort 9611
Population recordCohort 28511
Population recordCohort 2811
Saudi Arabia · Madinah11
Population recordCohort 15411
Population recordCohort 20011
Population recordCohort 7611
Tabuk11
Population recordCohort 9111
Population recordCohort 12011
Population recordCohort 20511
Saudi ArabiaCohort 10011
Saudi Arabia · Jeddah11
Saudi Arabia · RiyadhCohort 5311
Saudi ArabiaCohort 1011
Saudi Arabia · RiyadhCohort 4911
Population recordCohort 40511
Population recordCohort 15111
Saudi ArabiaCohort 12511
Population recordCohort 71711
Saudi ArabiaCohort 17111
Population recordCohort 8,26511
Saudi Arabia · MakkahCohort 12211
Saudi Arabia · RiyadhCohort 11811
Saudi ArabiaCohort 25711
Saudi ArabiaCohort 5,37711
Population recordCohort 42411
Population recordCohort 29711
Saudi ArabiaCohort 14311
Saudi Arabia · JeddahCohort 8111

Supporting publications

100 records
  1. 2026The Global State of Contemporary Andrology Practice: A Comprehensive Analysis of Clinical Practice, Training Pathways, and Emerging Challenges.The world journal of men's health1 mentions
  2. 2026Exosomal ncRNAs in seminal fluid: Unraveling their regulatory roles in male infertility.Reproductive biology1 mentions
  3. 2026Impact of physical activity on the hypothalamic-pituitary-gonadal axis in older males: a comparative and AI-based predictive modeling study of demographic factors and stress markers.Journal of computer-aided molecular design1 mentions
  4. 2026Endometrial molecular genetic phenotypes and histological endometrial phase in women with reproductive failure.Journal of reproductive immunology1 mentions
  5. 2026Epigenetic Landscape of Female Infertility: An Integrated Bioinformatics Perspective on DNA Methylation, MicroRNAs, and Gene Regulatory Networks Across PCOS, Endometriosis, and Diminished Ovarian Reserve.International journal of molecular sciences1 mentions
  6. 2026Pathogenic homozygous PLCZ1 mutation reduces sperm protein levels with a simulated reduction of PIP2 binding: a case report.Reproduction & fertility1 mentions
  7. 2026Human stem cell-based embryo models: innovation, ethics, and policy.Human reproduction (Oxford, England)1 mentions
  8. 2026Condyloma acuminata prevalence, clinical characteristics, and associated malignancies in Saudi patients at a tertiary care center.Dermatology reports1 mentions
  9. 2026Exosomes in oncofertility: emerging roles in chemotherapy-induced reproductive damage and fertility preservation.Reproduction & fertility1 mentions
  10. 2026The fortunate amelioration of Costus speciosus on phenotypes of letrozole-induced polycystic ovary syndrome in female rats.Brazilian journal of biology = Revista brasleira de biologia1 mentions
  11. 2026Secondary antibody therapy outperforms corticosteroids in an ameliorating lipopolysaccharide-induced rat model of premature ovarian failure.Veterinarni medicina1 mentions
  12. 2026A novel MOS variant causes large polar body formation and parthenogenetic activation; case report of an unusual phenomenon leading to female infertility.Zygote (Cambridge, England)1 mentions
  13. 2026Modern Polycystic Ovary Syndrome (PCOS) Management: Intelligent Drug Delivery and Metabolic Reprogramming for Ovarian Restoration and Fertility Optimization.Biomolecules1 mentions
  14. 2026Diagnostic and prognostic biomarkers in PCOS: Navigating insulin resistance, systemic inflammation, and endometrial receptivity.Clinica chimica acta; international journal of clinical chemistry1 mentions
  15. 2025Unraveling the impact of semaglutide in a diabetic rat model of testicular dysfunction: Insights into spermatogenesis pathways and miRNA-148a-5p.Steroids1 mentions
  16. 2025Evaluation of circANKLE2 & circL3MBTL4 -RNAs Expression in Fertile and Infertile Men.Biochemical genetics1 mentions
  17. 2025The Preventive Effect of Zinc Sulfate against Olanzapine-Induced Testicular Toxicity in Male Rats.Biological trace element research1 mentions
  18. 2025A non-hormonal reversible contraceptive targeting GSK3α, a protein kinase, essential for epididymal sperm maturation.Andrology1 mentions
  19. 2025Women's issues in epilepsy: Knowledge, awareness, and attitudes among a sample of the Bahraini population.Epilepsy & behavior : E&B1 mentions
  20. 2025Prevalence and clinical considerations of Y chromosome microdeletions in azoospermic and oligozoopsermic infertile men from Al Madinah Al Munawarah, Saudi Arabia.Saudi medical journal1 mentions
  21. 2025Dyslipidemia and female reproductive failures: perspectives on lipid metabolism and endometrial immune dysregulation.Seminars in immunopathology1 mentions
  22. 2025Ameliorative effect of Fagonia indica-coated chitosan nanoparticles on the ovulatory pattern in PCOS rat model.Journal of ovarian research1 mentions
  23. 2025L-Citrulline Alleviates Testicular Ischemia/Reperfusion Injury in Rats by Modulating eNOS/iNOS Induced Nitric Oxide Production, Inflammation, and Apoptosis.Journal of experimental zoology. Part A, Ecological and integrative physiology1 mentions
  24. 2025The Role of Exosomal miRNAs in Female Infertility: Therapeutic Potential and Mechanisms of Action.Stem cell reviews and reports1 mentions
  25. 2025The Role of Hypoxia-Inducible Factor-1α (HIF-1α) in the Progression of Ovarian Cancer: Perspectives on Female Infertility.Cells1 mentions
  26. 2025BIOCHEMICAL INSIGHTS AND HORMONAL MARKERS OF POLYCYSTIC OVARY SYNDROME IN SUDANESE WOMEN: EXPLORING INFERTILITY AND RISK FACTORS IN RED SEA STATE.Georgian medical news1 mentions
  27. 2025Genetic Polymorphisms of Vascular Endothelial Growth Factor and Their Impact on Recurrent Spontaneous Miscarriage in Saudi Women.International journal of molecular sciences1 mentions
  28. 2025No Genomic Signatures Were Found in Escherichia coli Isolates from Camels With or Without Clinical Endometritis.Veterinary sciences1 mentions
  29. 2025Investigation of testis proteome alterations associated with male infertility in Dcaf17-deficient mice.Systems biology in reproductive medicine1 mentions
  30. 2025PCM1 orchestrates centrosomal and flagellar protein transport to promote sperm maturation.Communications biology1 mentions
  31. 2025Morin hydrate protects against cisplatin-induced testicular toxicity by modulating ferroptosis and steroidogenesis genes' expression and upregulating Nrf2/Heme oxygenase-1.Scientific reports1 mentions
  32. 2025Assessing the knowledge, attitudes, and perceptions of ovarian cryopreservation technology among women with ovarian diseases.Frontiers in public health1 mentions
  33. 2025Impact of CYP2A6 genetic polymorphism on letrozole efficacy in Iraqi women with polycystic ovary syndrome.Journal of Taibah University Medical Sciences1 mentions
  34. 2025Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15-A Novel Report.Clinical case reports1 mentions
  35. 2025Pharmacological Evaluation of the Combination Therapy of Novel Herbal Mixture in Polycystic Ovary Syndrome.Current protein & peptide science1 mentions
  36. 2025Astragalus polysaccharides protect against Di-n-butyl phthalate-induced testicular damage by modulating oxidative stress, apoptosis, and the PI3K/Akt/mTOR pathway in rats.Frontiers in veterinary science1 mentions
  37. 2025Steroid hormone-treated endometrial organoids enhance implantation of in vitro-produced porcine embryos.Journal of veterinary science1 mentions
  38. 2025Polycystic ovarian syndrome a risk factor for non-communicable diseases: insights into recent research and prevention approaches.Journal of ovarian research1 mentions
  39. 2025Breathing new life into male fertility: the potential of mitochondrial transplantation.Molecular biology reports1 mentions
  40. 2025Familial novel androgen receptor gene variant associated with bilateral cryptorchidism and severe male infertility: A case report.Urology case reports1 mentions
  41. 2025Computational Identification of Genetic Background of Infertility and Calculating Inbreeding Coefficient in Dromedary Camel Herds.Genes1 mentions
  42. 2025Prevalence of polycystic ovary syndrome (PCOS) and its associated hormonal and comorbid risk factors in Northeast India: a cross-sectional comparative study.Therapeutic advances in reproductive health1 mentions
  43. 2025Integrated Bioinformatics and Experimental Analysis Revealed Crosstalk Between IL-6, Autophagy, Ubiquitination, and Key miRNAs in Female Infertility: Insights from Ovarian Endometriosis and Polycystic Ovary Syndrome.Cells1 mentions
  44. 2025The Evolution of In Vitro Fertilization Practices in Saudi Arabia: Historical Perspectives and Future Directions.Cureus1 mentions
  45. 2025Efficacy & safety of sodium-glucose cotransporter-2 inhibitors in polycystic ovary syndrome: A meta-analysis with trial sequential analysis.The Indian journal of medical research1 mentions
  46. 2025Inevitable Posterior Lower Segment Cesarean Section Due to Irreducible Uterine Torsion in a Woman Carrying X-Linked Myotubular Myopathy: A Case Report.Cureus1 mentions
  47. 2025First serological evidence and risk factor analysis of Neospora caninum and Besnoitia besnoiti infections in cattle and sheep from three regions of Saudi Arabia.Veterinary world1 mentions
  48. 2025Thymoquinone Attenuates Aluminum Chloride-Induced Testicular Injury by Inhibiting NLRP3/Caspase 1/IL-1β Inflammasome Signaling and Polarizing the Macrophages Toward Anti-Inflammatory M2 Phenotype.Cells1 mentions
  49. 2025Protective Effects of Olea europaea L. Leaves and Equisetum arvense L. Extracts Against Testicular Toxicity Induced by Metronidazole Through Reducing Oxidative Stress and Regulating NBN, INSL-3, STAR, HSD-3β, and CYP11A1 Signaling Pathways.Toxics1 mentions
  50. 2024Technical Aspects and Clinical Limitations of Sperm DNA Fragmentation Testing in Male Infertility: A Global Survey, Current Guidelines, and Expert Recommendations.The world journal of men's health1 mentions
  51. 2024Pharmacological update of mirtazapine: a narrative literature review.Naunyn-Schmiedeberg's archives of pharmacology1 mentions
  52. 2024Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity.Human reproduction (Oxford, England)1 mentions
  53. 2024The Role of Chlorella vulgaris in Attenuating Infertility Induced by Cadmium Chloride via Suppressing Oxidative Stress and Modulating Spermatogenesis and Steroidogenesis in Male Rats.Biological trace element research1 mentions
  54. 2024Exploring the association of ESR1 and ESR2 gene SNPs with polycystic ovary syndrome in human females: a comprehensive association study.Journal of ovarian research1 mentions
  55. 2024miRNA expression in PCOS: unveiling a paradigm shift toward biomarker discovery.Archives of gynecology and obstetrics1 mentions
  56. 2024Evaluation of telomere length, reactive oxygen species, and apoptosis in spermatozoa of patients with oligospermia.Cell biochemistry and function1 mentions
  57. 2024The mammalian sperm factor phospholipase C zeta is critical for early embryo division and pregnancy in humans and mice.Human reproduction (Oxford, England)1 mentions
  58. 2024Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women.Biomedicines1 mentions
  59. 2024The Aftermath of COVID-19: Exploring the Long-Term Effects on Organ Systems.Biomedicines1 mentions
  60. 2024Autophagy and Female Fertility: Mechanisms, Clinical Implications, and Emerging Therapies.Cells1 mentions
  61. 2024Exploring the Association of Biochemical Characterization and Genetic Determinants of TNF-α, CXCR2, and CCR5 Delta 32 Mutation with Predisposition to Polycystic Ovary Syndrome.Life (Basel, Switzerland)1 mentions
  62. 2024Ameliorative Effect of Chitosan/Spirulina platensis Ethanolic Extract Nanoformulation against Cyclophosphamide-Induced Ovarian Toxicity: Role of PPAR-γ/Nrf-2/HO-1 and NF-kB/TNF-α Signaling Pathways.Marine drugs1 mentions
  63. 2024Nanostructured biloalbuminosomes loaded with berberine and berberrubine for Alleviating heavy Metal-Induced male infertility in rats.International journal of pharmaceutics1 mentions
  64. 2024Perrault syndrome: a forgotten presentation for infertile women.Clinical case reports1 mentions
  65. 2024Polycystic ovary syndrome: Recent research and therapeutic advancements.Life sciences1 mentions
  66. 2024Decoding the Genes Orchestrating Egg and Sperm Fusion Reactions and Their Roles in Fertility.Biomedicines1 mentions
  67. 2024Comprehensive epidemiological evaluation of ruminant brucellosis and associated risk factors in some Egyptian Governorates.Veterinary world1 mentions
  68. 2023The effect of toxic air pollutants on fertility men and women, fetus and birth rate.Reviews on environmental health1 mentions
  69. 2023Impact of Varicocele Repair on Semen Parameters in Infertile Men: A Systematic Review and Meta-Analysis.The world journal of men's health1 mentions
  70. 2023The role of CFTR channel in female infertility.Human fertility (Cambridge, England)1 mentions
  71. 2023The Renaissance of Male Infertility Management in the Golden Age of Andrology.The world journal of men's health1 mentions
  72. 2023The Implication of Mechanistic Approaches and the Role of the Microbiome in Polycystic Ovary Syndrome (PCOS): A Review.Metabolites1 mentions
  73. 2023An Analysis of the Structural Relationship between Thyroid Hormone-Signaling Disruption and Polybrominated Diphenyl Ethers: Potential Implications for Male Infertility.International journal of molecular sciences1 mentions
  74. 2023The Therapeutic and Diagnostic Potential of Phospholipase C Zeta, Oocyte Activation, and Calcium in Treating Human Infertility.Pharmaceuticals (Basel, Switzerland)1 mentions
  75. 2023Oral phosphodiesterase type 5 inhibitors and male reproductive potential: an overview.Sexual medicine reviews1 mentions
  76. 2023The interplay between androgens and the immune response in polycystic ovary syndrome.Journal of translational medicine1 mentions
  77. 2023Controversy and Consensus on Indications for Sperm DNA Fragmentation Testing in Male Infertility: A Global Survey, Current Guidelines, and Expert Recommendations.The world journal of men's health1 mentions
  78. 2023Controversy and Consensus on the Management of Elevated Sperm DNA Fragmentation in Male Infertility: A Global Survey, Current Guidelines, and Expert Recommendations.The world journal of men's health1 mentions
  79. 2023Using autophagy, apoptosis, cytoskeleton, and epigenetics markers to investigate the origin of infertility in ex-fissiparous freshwater planarian individuals (nomen nudum species) with hyperplasic ovaries.Journal of invertebrate pathology1 mentions
  80. 2023Molecular Role of Asn680Ser and Asp37Glu Missense Variants in Saudi Women with Female Infertility and Polycystic Ovarian Syndrome.Current issues in molecular biology1 mentions
  81. 2023The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome.Frontiers in endocrinology1 mentions
  82. 2023Reduced expression of miR-221 is associated with the pro-apoptotic pathways in spermatozoa of oligospermia men.Journal of reproductive immunology1 mentions
  83. 2023A DNA Methylation Perspective on Infertility.Genes1 mentions
  84. 2022ASTL is mutated in female infertility.Human genetics1 mentions
  85. 2022Effect of obesity on fertility parameters in WIO mice model.Advances in clinical and experimental medicine : official organ Wroclaw Medical University1 mentions
  86. 2022Recurrent spontaneous oocyte activation causes female infertility.Journal of assisted reproduction and genetics1 mentions
  87. 2022Protamines and DNA integrity as a biomarkers of sperm quality and assisted conception outcome.Andrologia1 mentions
  88. 2022Fertilization, Oocyte Activation, Calcium Release and Epigenetic Remodelling: Lessons From Cancer Models.Frontiers in cell and developmental biology1 mentions
  89. 2022Consanguineous Marriages and Dental Anomalies: A Cross-Sectional Analytical Study.International journal of dentistry1 mentions
  90. 2022Polycystic Ovary Syndrome: A Disorder of Reproductive Age, Its Pathogenesis, and a Discussion on the Emerging Role of Herbal Remedies.Frontiers in pharmacology1 mentions
  91. 2022Disruption of male fertility-critical Dcaf17 dysregulates mouse testis transcriptome.Scientific reports1 mentions
  92. 2021Generation of an iPSC cohort of isogenic iPSC lines (46-XY and 47-XXY) from a non-mosaic Klinefelter Syndrome patient (47-XXY) (KAUSTi008-A, KAUSTi008-B, KAUSTi008-C, KAUSTi008-D, KAUSTi008-E, KAUSTi008-F, KAUSTi008-G).Stem cell research1 mentions
  93. 2021First evidence of involvement of TBC1D25 in causing human male infertility.European journal of medical genetics1 mentions
  94. 2021Estrogen induces shift in abundances of specific groups of the coral microbiome.Scientific reports1 mentions
  95. 2021A review on inositol's potential in cyclic disturbances of adipose-endocrinology-associated polycystic ovary syndrome.Molecular and cellular biochemistry1 mentions
  96. 2021Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia.Genes1 mentions
  97. 2021A Critical Review of the Therapeutic Potential of Vitamin D-Mediated Suppression of miRNA222-Associated Metabolic Defects in Polycystic Ovarian Syndrome.Critical reviews in eukaryotic gene expression1 mentions
  98. 2021A 46-Year-Old Woman with Primary Infertility and a Diagnosis of Microcystic Stromal Tumor of the Ovary Confirmed by Histology and Gene Sequencing: A Case Report and Review of the Literature.The American journal of case reports1 mentions
  99. 2021Polycystic ovary syndrome is linked with the fat mass obesity (FTO) gene variants rs17817449 and rs1421085 in western Saudi Arabia.Bioinformation1 mentions
  100. 2020Ameliorative effect of combined low dose of Pioglitazone and omega-3 on spermatogenesis and steroidogenesis in diabetic rats.Journal of cellular biochemistry1 mentions