| Diseases | Gene symbol |
|---|
| Alpha-1-antitrypsin (A1AT) deficiency | SERPINA1 |
| Anemia due to disorders of glutathione metabolism | GCLC |
| Autosomal dominant tubulointerstitial kidney disease (ADTKD) | HNF1B |
| Bladder cancer | DAPK1 |
| Brain small vessel disease with hemorrhage | COL4A1 |
| Chronic obstructive pulmonary disease (COPD) | SERPINA1 |
| Combined immunodeficiencies (CIDs) | PNP, CD40LG |
| Combined SAP deficiency | PSAP |
| Defects in the degradation of ganglioside | PSAP |
| Defects in the degradation of sulfatide | PSAP |
| Gaucher disease | PSAP |
| Hepatocellular carcinoma | NFE2L2 |
| Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) | COL4A1 |
| Hypogonadotropic hypogonadism | KISS1 |
| Krabbe disease | PSAP |
| Maturity onset diabetes of the young (MODY) | KLF11, HNF1B |
| Metachromatic leukodystrophy (MLD) | PSAP |
| Porencephaly | COL4A1 |
| Sjogren's syndrome | STAT4 |
| Systemic sclerosis | STAT4 |
| Type II diabetes mellitus | HNF1B |
| X-linked ichthyosis | STS |
| 17 alpha-hydroxylase deficiency | CYP17, CYP17A1 |
| 17,20-lyase deficiency | CYP17A1 |
| 21-hydroxylase deficiency (CAH) | AR |
| 46 XX disorders of sex development (DSD) | HSD17B3, NR5A1 |
| 46 XX gonadal dysgenesis | FSHR |
| 46 XY disorders of sex development (DSD) | AR, WT1 |
| 46 XY is gonadal dysgenesis | NR5A1, WT1 |
| 46 XY sex reversal | AKR1C2, NR5A1 |
| 5alpha-reductase deficiency | SRD5A2 |
| ?Hypogonadotropic hypogonadism 13 with or without anosmia | KISS1 |
| Abdominal aortic aneurysm | MMP10 |
| Abnormal menustral cycle | ITGB3 |
| Abnormal seminal plasma | FAS, FASLG |
| Abnormal sperm | FASL, MMP7, TIMP1 |
| Abnormal spermatogenesis | HSPB1 |
| Abnormal testicular determination | AMH |
| Abnormal urogenital development | WT1 |
| Abruptio placentae | MTHFR, IL1RN |
| Absence of the vas deferens | CFTR |
| Absence of virilization | LHB |
| Acatalasemia | CAT |
| Achalasia | NOS3 |
| Acne vulgaris | AR |
| Acrocapitofemoral dysplasia | IHH |
| Acromegaly | SSTR5 |
| Acromesomelic dysplasia | BMPR1B |
| Actinic prurigo | TNF |
| Acute anterior uveitis | HLA-B |
| Acute coronary syndrome | CYP2B6, CYP2C19, CCL11, CD40 |
| Acute lymphocytic leukemia | NOD2 |
| Acute myeloid leukemia | 09-Sep, FLT3, KIT, KRAS, NRAS |
| Acute pancreatitis | IL1RN, IL6, IL1B |
| Acute respiratory syndrome | FCER2 |
| Adams-Oliver syndrome | NOTCH1 |
| Addison's disease | CCR5, CD69, ERBB3, FKBP5, HLA-DQA1, HLA-DRB1, IL2, IL2RA, MICA, NR3C1, PTPN22, VDR |
| Adenocarcinoma | BRAF, EGFR, CD83, CYP24A1, AHRR, MBD2, NPY, PIK3CA, OGG1 |
| Adenoma | OGG1, PIK3CA |
| Adenomatous Polyposis Coli | OGG1 |
| Adenomyosis | ANXA2, BCL2, CA125, CAT, CDH1, COMT, COX2, GJA1, CXCR1, CXCR2, CYP17, CYP1A1, EGF, EGFR, ESR1, ESR2, FGF1, FGF2, GALT, GM-CSF, HCG, hMLH1, HMSH2, HOXA10, IFNG, IGF1R, IL10, IL18, IL1B, ITGB3, Ki-67, LHCGR, LIF, MCP1, MMP2, MMP9, OPN, OXTR, CDKN2A, PGR, SOD1, TGFB1, TNF, NTRK2, VEGFA, ITGA3, ITGA2, XDH, TIMP2, PAK1, NOS2, NCAM1, MUC16, MMP7, MMP3, MMP1, ITGB1, ITGA3, HLA-G, HLA-DRB1, HLA-DQA1, GPX1, CYP2B6, CYP1B1, CDC42, BAX, MMP7 |
| Adenomyotic nodules | NGF |
| Adiponectin atherosclerosis | ADIPOQ |
| Adiponectin deficiency | ADIPOQ |
| Adnexal malignancy | WFDC2 |
| Adrenal carcinoma | IGF2, NRAS, TP53 |
| Adrenal hyperplasia | HLA-B, HLA-DRB1, IGF2, PON1, HSD3B2 |
| Adrenal insufficiency | CYP11A1, HLA-DQA1, NR5A1 |
| Adrenocortical insufficiency | NR5A1 |
| Adrenoleukodystrophy | MTHFR |
| ADULT syndrome | TP63 |
| Adult T-cell leukemia | CDKN2A, FAS, TP53 |
| Affects sperm motility | PAFAH1B2 |
| Afibrinogenemia | FGA |
| Agammaglobulinemias | PIK3R1, CD40, CD79A |
| Agenesis of vas deferens | CFTR |
| Aggressive periodontitis | IL10, IL18, IL1A, IL1B, IL1RN, IL2, IL6, LTF |
| Agranulocytosis | MPO |
| AHG deficiency disease | CCR5 |
| Alagille syndrome | JAG1 |
| Albuminuria | ACE, CCL5, F3, TGFB1, TP53 |
| Alexithymia | COMT |
| Allergic rhinitis | ACE, FOXP3, HLA-DQA1, IFNG, IL10, IL2, IL4, IL5, IL6, TGFB1, TNF, TSLP, CCL5, CCR1, CCR5, CXCL10, GATA3, IL13, IL18 |
| Allergies | CFTR, HLA-DQA1, HLA-DRB1, ICAM1, IFNG, IL10, STAT6 |
| Allergy asthma | NOS3 |
| Allergy dermatitis | IL16 |
| Alopecia areata | AR, CCL2, HLA-A, HLA-B, HLA-C, IL1A, IL2RA, MIF, NOS3, PTPN22, VDR |
| Alveolar Bone Loss | TNF |
| Alveolar rhabdomyosarcoma | FOXO1 |
| Alveolitis | HLA-B, HLA-A, HLA-C, TGFB1 |
| Alzheimer's disease | A2M, ABCG2, ACE, AGER, AGTR1, AHR, AHSG, AIF1, AKR1C1, AKT1, APEX1, APOA1, APOE, AR, BCHE, BDNF, BLMH, C3, CAT, CCL2, CCL3, CCL5, CCR5, CDKN2A, CETP, COMT, CP, CRP, CSF1, CTSD, CTSG, CXCL1, CXCL12, CYP17A1, CYP19A1, CYP1A1, CYP26A1, DKK1, EDN1, EDNRA, EIF4EBP1, ENO2, ESR1, ESR2, F3, FAS, FASLG, FGA, FGF1, FGFR1, FOS, FSHR, FYN, GC, GDF15, GHRH, GSK3B, GSTP1, HLA-A, HLA-DRB1, HMGB1, HMOX1, HMOX2, HP, HPGD, HSPD1, HTRA1, ICAM1, IFNG, IGF1, IGF1R, IGF2, IGFBP1, IGFBP2, IGFBP3, IGFBP5, IL10, IL11, IL18, IL1A, IL1B, IL1R1, IL1R2, IL1RN, IL2, IL2RA, IL33, IL4, IL6, IL6R, IRS2, ITGA2, ITGB1, JAG1, KDR, L1CAM, LEPR, LHB, LHCGR, LOXL4, LPA, LTA, MICA, MICB, MIF, MKI67, MME, MMP1, MMP2, MMP3, MMP9, MPO, MTHFR, MTOR, MYC, NAT2, NCAM1, NFKB1, NFKB2, NGF, NOS2, NOS3, NOTCH4, NRP1, NTRK2, PAX2, PDGFRA, PIK3CA, PIK3R1, PLA2G4A, PLAU, POSTN, PPARA, PPARG, PPRC1, PTEN, PTGER2, PTGER3, PTGER4, PTGES, PTGFR, PTGS1, PTGS2, SCARB1, SERPINE1, SIRT1, SLC6A4, SMAD3, SNCG, SOD1, SST, TF, TGFB1, TIMP1, TNF, TNFRSF1B, TP53, UCHL1, USF1 |
| Ambiguous genitalia | AR, CYP19A1, AMH, SRD5A2, NR5A1, WT1 |
| Amelogenesis imperfecta | ITGB6 |
| Amenorrhea | GHRL, INHB, LEP, LHCGR, CDH1 |
| Amnesia | APOE |
| Amyloid neuropathies | APOE, COMT |
| Amyloidosis | FGA, IL1B, MICA, SAA1, SERPINE1, TLR2, TNF, TNFRSF1A |
| Amyotrophic lateral sclerosis | STC1, OGG1 |
| Amyotrophic lateral sclerosis (ALS) | HGF, PON1, AGTR1, ANG, APOE, CETP, CP, DPP6, HPGD, ICAM1, INHB, ITGA2, ITGB3, KIFAP3, LEP, LPA, LTA, MIF, MMP1, MMP12, MMP3, MMP9, MTHFR, NOS3, OLFM4, PPARG, PTGS2, SERPINE1, SLCO4A1, SOD1, TNF, TNFSF13B, TYMP, VDR, VEGFA |
| Anaphylaxis | IL10, KIT |
| Androgen insensitivity syndrome (AIS) | AMH, AR |
| Androgen resistance syndromes | AR |
| Androgenetic alopecia | SRD5A2, SRD5A1 |
| Andrological diseases | HGF |
| Anemia | CD36, CYP1A1, GSTM1, HLA-A, HLA-B, HLA-DRB1, HP, IFNG, MIF, MTHFR, TF, TNF, TNFRSF1A, TNFRSF1B, VDR |
| Aneurysm | ACE, MMP3 |
| Angiogenesis | MANEA, COL18A1 |
| Angiogenesis in endometriosis | VEGFC |
| Angiomatosis | HTRA1 |
| Angiomyolipoma | OGG1 |
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | COL4A2 |
| Angiosarcoma | KRAS, NRAS |
| Ankyloblepharon-ctodermal defects-cleft lip/palate | TP63 |
| Ankylosing spondylitis | CYP1A1, HLA-B, HLA-C, HLA-DQA1, HLA-DRB1, IL1A, IL1B, IL1R1, IL1R2, IL1RN, IL6, KIR2DL1, KIR2DS4, KIR3DL1, MICA, MMP3, NFKB1, RUNX3, TGFB1, TLR2, TLR4, TNF, VEGFA, KIR3DS1 |
| Anophthalmia and microphthalmia | BMP4, SOX2 |
| Anorchia | NR5A1 |
| Anorexia nervosa | ADIPOQ, BDNF, CLOCK, COMT, ESR1, ESR2, GHRL, IGF2, NTRK2, RETN, SLC6A4 |
| Anovulation | AMH, AMHR2, DRD2, FSHR, LHB |
| Anoxia | HIF1A, VEGFC |
| Anterior segment dysgenesis | CYP1B1 |
| Anti-neutrophil cytoplasmic antibody-associated vasculitis | ERBB3 |
| Antiphospholipid syndrome | HLA-DQA1, HLA-DRB1, MTHFR, SERPINE1, TNF |
| Antral follicle morphology | AR |
| Anxiety disorder | BDNF, COMT, MME, PON1, SLC6A4 |
| Aortic aneurysm | MMP12, MMP13, MMP2, MMP9, MTHFR, PGR, SPP1, TGFB1, TIMP1, TIMP2 |
| Aphasia | APOE |
| Aphthous stomatitis | IL10, IL12 |
| Aplastic anemia | GSTM1, GSTP1, GSTT1, PTPN22, IFNG, TERT |
| Apolipoprotein A-II deficiency | APOA2 |
| Apoplexy | ITGB3, XRCC1, CD40, NPY |
| ARDS | VEGFA |
| Aromatase deficiency | CYP19A1 |
| Aromatase excess syndrome | CYP19A1 |
| Arrested spermatogenesis | AR |
| Arterial hypertension | FYN |
| Arthralgia | COMT |
| Arthritis | A2M, AIF1, CCL2, CCR5, CD44, CRH, CRP, CYP19A1, CYP1A1, FAS, FCRL3, HLA-B, HLA-DQA1, HLA-DRB1, ICAM1, IFNG, IL10, IL12A, IL15, IL18, IL1A, IL1B, IL1R1, IL1RN, IL2, IL4, MMP1, MMP2, MMP3, STAT6, TIMP1, TIMP4, TLR4, TNF, TNFRSF1A, TNFRSF1B |
| Arthrofibrosis | HLA-A, HLA-B, HLA-C |
| Asperger Syndrome | FHIT |
| Asthenoteratozoospermia | ACE, CFTR, SOD1, TNF |
| Asthenozoospermia | ACE, ADM, AMH, ANXA2, ANXA4, ANXA5, AR, CA2, CASP3, CD79A, COX2, COX3, CX3CL1, CYP19A1, DJ1, eNOS, ERK, FN1, FSHR, GC, GPX1, GSTM1, H19, HIF1A, IL1A, IL1B, IL2RA, IL6, IL6R, IL6ST, CXCL8, INHB, MIR122, MIR34C, MIRLET7B, MMP9, NGF, OXTR, PARK7, PGR, PLA2, S100A9, SOD1, TGFB1, TNF, TP2, VEGFA |
| Asthma | ACE, ACP1, BDNF, C3, C5, CAT, CCL2, CCL5, CCL7, CCR5, CD40, CETP, CFTR, CHI3L1, CMA1, CRHR1, CRHR2, CSF2RB, CX3CL1, CXCR3, CXCR4, CYP1A1, CYP1A2, CYP1B1, DKK1, EDN1, EDNRA, EGFR, EGR1, ESR1, FCER1G, FCER2, FKBP4, FKBP5, GATA3, GC, GHRL, GPX1, GSTM1, GSTP1, GSTT1, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-G, HP, HSP90AA1, IFNG, IL10, IL12, IL15, IL16, IL17A, IL18, IL1B, IL1R1, IL1RL1, IL1RN, IL2, IL2RB, IL33, IL4, IL5, IL6, IL6R, IRS2, ITGB3, KDR, LAMA1, LEP, LEPR, LPA, LTA, MICA, MICB, MIF, MMP1, MMP12, MMP9, MPO, MTHFR, MUC1, MUC2, NAT2, NOD1, NOD2, NOS2, NOTCH4, NR3C1, PDGFA, PDGFRA, PLA2G4A, PLAU, PLAUR, PON1, PPARG, PTGDS, PTGER2, PTGER3, PTGER4, PTGFR, PTGS1, PTGS2, SELE, SERPINE1, SMAD3, SPP1, STAT3, STAT6, TBX21, TGFB1, TGFB2, TIMP1, TLR2, TLR3, TLR4, TLR9, TNC, TNF, TSLP, VDR, VEGFA, ADA, CCL11, CSF2, IL9, HLA-DRB1, IL13, IPO13, CYP24A1, HLA-DRA |
| Astigmatism | PDGFRA |
| Astrocytoma | PIK3CA |
| Ataxia | ATM, CP, FGF2 |
| Atherosclerosis | ABCG2, ACE, ACP1, ADIPOQ, AGTR1, AHSG, APOE, BCHE, CCL2, CCL5, CD36, CD40LG, CDKN1A, CDKN2A, CHEK2, CMA1, COMT, CXCL12, CXCL16, CYP17A1, CYP19A1, EDN1, ESR1, F3, GHRL, GPX1, GSTM1, GSTT1, IL18, IL6, IRS2, ITGA3, MPO, NOD1, NOD2, NR3C1, PGM1, PTGS1, RETN, SCARB1, SPP1, TLR2, TLR4, TLR9, TNF, TP53, USF1, VEGFA, ZNF366, ADA, CCL11, CSF2, PPARG, PON1, ADIPOR2, CD40, ADIPOR1, NPY |
| Atopic asthma | NR3C1, CCL11 |
| Atopic dermatitis | CMA1, HLA-B, IL12, IL13, IL18, TGFB1, NGF, NOD1, NOD2, TLR2, TLR9 |
| Atopy | ACE, BCL6, COL18A1, EDN1, FCER2, FOXP3, GSTP1, HLA-C, HLA-DRB1, IFNG, IGHG1, IL10, IL13, IL18, IL1A, IL1B, IL2, IL4, IL5, IL6, LTA, MIF, NAT2, STAT6, TLR4, TLR9, TNF |
| Atransferrinemia | TF |
| Atrioventricular septal defect | GATA6, GJA1 |
| Atrophic vasa deferentia and epididymides | NR5A1 |
| Atrophy | OGG1 |
| Attention-deficit hyperactivity disorder | FHIT |
| Attention-deficit hyperactivity disorder (ADHD) | APOE, AR, ASTN2, BDNF, BMPR1B, COMT, CRH, CYP19A1, DRD2, ESR1, FOXP1, HLA-DRB1, IL16, IL6, LEP, MME, MMP24, NGF, NOS3, NTF4, NTRK2, OPRM1, OXTR, PLCB3, SEMA3A, SHBG, SLC6A4, SYP, TGFB2 |
| Atypical hemolytic uremic syndrome | C3 |
| Autism | APOE, AR, BDNF, CGA, CLOCK, COMT, CYP11A1, CYP17A1, CYP19A1, CYP1A1, CYP1B1, DRD2, ESR1, ESR2, FOXO1, FSHB, GHRL, GPX1, GSTM1, HLA-DRB1, HSD17B2, HSD17B3, IGF1, IGF2, IL1RN, ITGB3, LEP, LEPR, LHB, LHCGR, MET, MTHFR, MUC1, NGF, NPTX2, NRP2, NTF4, NTRK2, OPRM1, OXTR, PON1, PTEN, PTGS2, RETN, SLC6A4, WNT2, ADA, NPY, SRD5A1 |
| Autoimmune diseases | HLA-A, HLA-B, HLA-DQA1, LTA, PTPN22, SPP1, TGFB1, TNF, TP53, VDR |
| Autoimmune leukoproliferative disorder | KRAS |
| Autoimmune lymphoproliferative syndromes | FAS, FASLG, NRAS |
| Autoimmune thyroid disease (AITD) | AMH, CD40, HLA-DRB1, IL6, SELE |
| Autosomal dominant mental retardation | ARID1A, CTNNB1 |
| Autosomal dominant neovascular inflammatory vitreoretinopathy | CAPN5 |
| Avascular necrosis | SERPINE1, VEGFA |
| Axial spondyloarthropathy | HLA-A, HLA-C, KIR2DL1, KIR2DS4, KIR3DL1, KIR3DS1 |
| Ayme-Gripp syndrome | MAF |
| Azoo-oligozoospermia | KITLG |
| Azoospermia | CASP3, ACE, CFTR, ESR1, H19, IL10, ADM, AHR, IL6, AHRR, CXCL8, ITGA6, AMH, AQP5, LEPR, AR, PGDS, PGR, BAX, BCL2, TERT, BRCA1, TF, TNF, KIT, COMT, CTSD, CYP19A1, DICER, DPP6, EGFR, ESR2, FASLG, FSHB, FSHR, GJA1, GPX1, GSTM1, GSTT1, H2AFX, HLA-A, HLA-B, HLA-DRB1, HO-1, HSPB1, INHB, KLK3, LEP, LF, LHB, LTA, MCL1, MLH1, MMP2, MTHFR, MUC1, NOS2, NOS3, NR5A1, OXTR, PAEP, PCDH17, PLAU, PMS2, PRL, RB1, SERPINE1, SHBG, SRD5A2, TIMP1, TIMP2, TP53, WT1, XRCC1, HLA-DRA |
| B lymphoblastic leukemia | MYC |
| Baraitser-winter syndrome 1 | ACTB |
| Barrett's esophagus | OGG1 |
| Basal cell carcinoma | TP53 |
| Beckwith-wiedemann syndrome | H19, IGF2 |
| Behcet Syndrome | KIR3DS1 |
| Behcet's disease | ACE, CCL2, CCL5, CCR5, CPB2, CYP1A1, CYP2C19, FCRL3, FOXP1, HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-G, ICAM1, IFNG, IL10, IL18, IL1A, IL1R2, IL6, IL6R, ITGA2, LEP, LTA, MICA, MICB, NFKB1, NOD2, NOS3, POU5F1, SERPINE1, TLR2, TLR9, TNF, TNFRSF1B, VEGFA |
| Benign ovarian cysts | INHBA |
| Benign prostatic hyperplasia | VDR |
| Beta thalassemia | MTHFR, NOS2 |
| Bicuspid aortic valve | NOTCH1 |
| Bilateral agenesis of the vas deferens | CFTR |
| Bilateral congenital absence of the vas deferens (CAVD) | CFTR |
| Bilateral congenital ductus deferens aplasia | CFTR |
| Bilateral cryptorchidism | SRD5A2, WT1 |
| Bilateral ejaculatory-duct obstruction | CFTR |
| Bile Duct Neoplasms | KLRK1 |
| Biliary atresia | CCR5, HLA-A, HLA-B, HLA-DQA1, ICAM1, IL10, IL1A, IL1B, MIF |
| Biliary liver cirrhosis | OPRM1, TNFRSF1A, VDR |
| Biliary primary cirrhosis | HLA-A, HLA-B, IL12, NFKB1 |
| Biliary Tract Neoplasms | OGG1 |
| Bipolar disorder | ACE, ADM, AKT1, BDNF, CCL2, CLOCK, COMT, CRH, DPYSL2, DRD2, ESR2, FBLN1, FYN, GSK3B, HLA-B, HLA-C, HSPA4, IL1B, IL1RN, MMP9, MTHFR, NCAM1, NR3C1, NTRK2, PDGFRA, PLA2G4A, SLC6A4, SSTR5 |
| Bladder cancer | CSF2, PPARG, CDKN2A, EGFR, ERBB2, RB1, TP53, SRA1, TFF3, CD40, RERG, CYP24A1, DCN, AHRR, OGG1, MBD2 |
| Blau syndrome | NOD2 |
| Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) | FOXL2 |
| Blindness | MTHFR |
| Blocking implantation | IL11, LIF |
| Blood coagulation disorders | MTHFR, NOS3 |
| Blood pressure | PLCD3, RND3, XDH |
| Bone density | CYP19A1 |
| Bone marrow diseases | TERT |
| Bowel endometriosis | MMP2, MMP3, TIMP2, PGR |
| Brachydactyly | BMPR1B, IHH |
| Brain aneurysm | LOXL1, LOXL4 |
| Brain cancer | PON1 |
| Brain diseases | CRHR1 |
| Brain hemorrhage | LIMK1, VCAN |
| Brain infarction | TP53 |
| Brain ischemia | IGF1R, IGFBP3, ITGB6, CCL11, CSF2, IL9, PPARG, NPY |
| Brain Neoplasms | OGG1 |
| Brain small vessel disease with or without ocular anomalies | COL4A3 |
| Breast cancer | ESR1, XRCC3, PON1, PPARG, BRCA1, BRCA2, ERBB2, MYC, PTEN, RB1, TP53, PTGS2, HGF, MIR17, TWIST1, SRD5A1, SULT1E1, OGG1, PEMT, PIK3CA, SRA1, ADIPOR1, CCR7, DCN, ADIPOR2, MBD2, MIR196A2, CYP24A1 |
| Breast Neoplasms | PIK3CA |
| Bronchial hyperresponsiveness | COMT, TNF |
| Bronchiectasis | CFTR, IFNG, MMP1, MMP9, TLR2 |
| Bronchiolitis | CCL11, CD40 |
| Bronchitis | TNF |
| Bronchopulmonary dysplasia | GSTP1, MMP14, PLAU, TNF |
| Budd-Chiari syndrome | JAK2 |
| Bulimia | BDNF, COMT, SLC6A4, NPY |
| Bullous pemphigoid | IFNG, IL13, IL4, IL6, TNF |
| Burkitt lymphoma | CDKN2A, MYC, TP53 |
| C4a deficiency | C4A |
| C5 deficiency | C5 |
| Calcinosis | APOE, HLA-DQA1, CYP24A1 |
| Calcium Metabolism Disorders | VDR |
| Calcium nephrolithiasis | VDR |
| Camurati-Engelmann disease | TGFB1 |
| Cancer | ABCC4, ABCG2, ACE, ACP1, ADAM17, ADIPOQ, AGER, AGTR1, AHR, AKR1C1, AKR1C2, AKR1C3, AMH, AMHR2, APEX1, APOA1, APOA2, ATM, BAX, BCL2, BIRC5, CADM2, CASP3, CAT, CCL2, CCL5, CCND1, CCR5, CD36, CD40, CD79A, CDH1, CDKN1A, CDKN1B, CDKN2A, CDX1, CETP, CFTR, CGA, CHEK2, CHI3L1, CLOCK, CMA1, COL18A1, COMT, COX2, CPB2, CRHR1, CRP, CSF1, CSF1R, CTNNB1, CTSB, CTSD, CX3CL1, CXCL10, CXCL12, CXCL14, CXCL5, CXCR4, CYP11A1, CYP19A1, CYP1A1, CYP2B6, CYP2C19, CYR61, DICER1, DIRAS3, DNMT1, DNMT3A, DNMT3B, DNMT3L, DPP6, DRD2, EDN1, EHMT2, ENG, ENO2, EZH2, FCER2, FGF2, FGFR1, FLT1, FLT3, FLT4, FN1, FOLR1, FOS, FOXP3, FSHB, FSHR, GALT, GATA2, GATA3, GC, GDF15, GHRH, GHRL, GPX1, GPX3, GREM1, GSK3B, GSTM1, GSTT1, GSTZ1, H19, H2AFX, HDAC1, HDAC2, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-G, HMGA2, HMOX1, HP, HPSE, HSD17B2, HSD17B3, HSD17B7, HSD3B2, HSF1, HSPA6, ICAM1, IFNG, IGF1, IGF1R, IGF2, IGFBP1, IGFBP2, IGFBP3, IGFBP5, IGFBP7, IL10, IL12A, IL13, IL15, IL16, IL17A, IL17F, IL18, IL1A, IL1R1, IL1R2, IL1RAP, IL1RL1, IL2, IL2RB, IL4, ITGA6, I |
| Cap myopathy | TPM3 |
| CARASIL syndrome | HTRA1 |
| Carcinoma | MIR196A2, KIR3DS1, OGG1, PIK3CA |
| Cardiac stroke | NRP1, ZEB1 |
| Cardiofaciocutaneous syndrome | BRAF, KRAS |
| Cardiomegaly | FGF1 |
| Cardiomyopathy | CRYAB, EGFR, ESR2, HLA-DQA1, HLA-DRB1, MICA, MICB, NFKB1, MIR196A2 |
| Cardiovascular disease | ACE, ADIPOQ, AGER, AGTR1, APOA1, APOE, CTSG, CYP1A1, EGF, F2R, FCER1G, HMGA2, IFNG, IL1R1, IL6, MKI67, MME, MMP1, NTN4, SEMA3A, SIRT1, STAT3, USF1, WNT2 |
| Cardiovascular Diseases | NPY |
| Carotid artery diseases | PON1, TIMP2 |
| Carotid artery stenosis | HGF |
| Carotid atherosclerosis | PTGDS |
| Carotid stenosis | CTNNA1 |
| Carpal-tunnel syndrome | CCL2 |
| Castleman disease | IL6 |
| Cataract | APOE, CRYAB, GALT, GSTM1, XRCC1, VIM, MAF |
| Cataract 21 | MAF |
| CD36 deficiency | CD36 |
| Celiac disease | CCL2, CCL5, CD74, CXCR4, CYP11A1, FAS, FASLG, FGF1, FOXP3, GREB1, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DRB1, ICAM1, IFNG, IL10, IL12, IL15, IL16, IL18, IL1A, IL1B, IL1RAP, IL1RN, IL2, IL2RB, IL4, IL5, IL6, IL6ST, KIR2DL1, MEIS1, MICA, MICB, MMP1, MMP3, MTHFR, NFKB1, NOD2, NR3C1, PARK7, PTPN22, RUNX3, SELE, SPINK1, TGFB1, TGFB2, TLR4, TNF, CCR9, IL22RA1, IL9, NPY, HLA-DRA |
| Central Nervous System Neoplasms | MIR196A2 |
| Cerebral amyloid angiopathy | A2M, BCHE, MME |
| Cerebral arteriopathy | ENG, HTRA1 |
| Cerebral infarct | AGTR1, SERPINE1, CCL11 |
| Cerebral palsy | AGTR1, ANXA5, APOE, IL10, IL1B, IL6, ITGB3, LTA, MMP3, MTHFR, NOS2, NOS3, PTGS2, SERPINB2, SERPINE1, TNF |
| Cerebrovascular disease | ADIPOQ, ICAM1, ITGA2, MTHFR, SELE, SERPINE1 |
| Ceroid lipofuscinosis | CTSD |
| Cervical cancer | BCL2, CDKN1A, EGFR, ERBB2, KRAS, CD83, FHIT, OGG1 |
| Cervical dystonia | APOE |
| Cervical intraepithelial neoplasia | OGG1 |
| Cervical Neoplasm | OGG1 |
| Chagas Disease | MIF, TNF |
| Charcot-Marie-Tooth disease | HSPB1, MME |
| Childhood-onset mood disorders | BDNF |
| Chinese ankylosing spondylitis patients | HLA-B |
| Cholangiocarcinoma | CDKN2A, ERBB2, KRAS, MET, PTGS2, TP53 |
| Cholangitis | CCR5, CFTR, HLA-B, HLA-DQA1, HP, ICAM1, MMP3, NOD1, NOD2, TNF, MST1 |
| Cholelithiasis | CETP, IL4 |
| Cholestasis | CYP17A1, CYP1B1, ESR1 |
| Choline deficiency | PEMT |
| Chondrosarcoma | MTHFR |
| Chorioamnionitis | TNF, IL9, CSF2, VEGFC, NPY |
| Choriocarcinoma | BCL2, CSF1R, EGFR, ERBB2, MMP1, MMP2, MYC |
| Chorioretinitis | HLA-A, HLA-C, IL10, KIR2DL1, KIR2DS4, KIR3DL1, KIR3DS1 |
| Choroid Diseases | HTRA1 |
| Chronic anovulation | CRP, FSHR |
| Chronic bronchitis | TNF |
| Chronic endometritis | ADIPOQ, BAX, BCL2, IgA, IGF1, IGFBP1, IL11, MMP2, MMP9 |
| Chronic eosinophilic leukemia | PDGFRA |
| Chronic fatigue syndrome | COMT, HLA-DQA1, IFNG, IL10, IL6, NR3C1, SERPINA6 |
| Chronic immune thrombocytopenic purpura | IL1B, LTA, TNF |
| Chronic kidney failure | CPB2, CRP, CXCL16, HLA-A, ICAM1, IL10, IL6, ITGA2, ITGB2, MMP1, MMP12, MMP2, MMP3, MMP9, MPO, NOS3, NR3C1, PIK3R1, PLCD1, PPARG, PTGDS, PTGS2, PTPN22, RETN, SELE, SERPINE1 |
| Chronic lymphocytic leukemia | IL6, ATM, BCL2, FAS, TP53 |
| Chronic myeloid leukemia | CDKN2A, RB1, TP53 |
| Chronic obstructive pulmonary disease (COPD) | CSF2, ABCC4, AGTR1, AHR, AKR1C3, AKT1, APEX1, APOA2, APOE, ATM, BAX, BCL2, CCL5, CDH1, CDKN1B, CDKN2A, CETP, CFTR, CGA, COL18A1, COMT, CRP, CSF1R, CTNNB1, CYP17A1, CYP19A1, CYP1A1, CYP1B1, CYP2C19, EDN1, EGF, EGFR, ENG, ERBB2, ESR1, ESR2, FOS, GATA3, GC, GDF15, GPX1, GPX3, GSK3B, GSTM1, GSTP1, GSTT1, GSTZ1, HMOX1, HSD17B1, HSD17B2, HSD3B2, ICAM1, IGF1, IGF1R, IGF2, IGFBP1, IGFBP2, IGFBP3, IGFBP5, IL10, IL11, IL12, IL13, IL15, IL1A, IL1B, IL1RN, IL2, IL4, IL6, IL6R, KRAS, LEP, LEPR, LTA, MET, MLH1, MMP1, MMP12, MMP14, MMP9, MPO, MSH2, MSH6, MTHFR, MYC, NAT2, NFKB1, NOD2, NOS2, NOS3, OPRM1, PCNA, PGR, PLA2G2A, PLK1, PMS2, PPARG, PTEN, PTGS1, PTGS2, SCARB1, SERPINE1, SLC6A4, TGFB1, TIMP2, TLR4, TNF, TNFRSF1A, TNFRSF1B, TP53, TP63, VEGFA, CD40, SRA1, TFF3, RERG, CYP24A1, AHRR, MBD2, OGG1, CCL11, CD1a |
| Chronic obstructive pulmonary disease/COPD | CCL11 |
| Chronic pelvic pain | MUC16 |
| Chronic Periodontitis | IL10, IL18, IL1B, IL4, LTA, MMP1, MMP13, PTGS2, TNF, ESR2 |
| Chronic progressive chorea | OGG1 |
| Chronic prostatitis | CRP, FOXP3, PAR2, TGFB1, TNF, PLAU |
| Chronic renal failure | NOS3, TNF, HGF, SRD5A1, SULT1E1, CD40, CYP24A1, NPY |
| Chronic toxic encephalopathy | GSTM1, GSTT1, HMOX1 |
| Chronic ulcerative colitis | CCR5, TGFB1, TNF, TP53, VDR |
| Churg-Strauss Syndrome | IL10 |
| Cirrhosis | C3, TNFRSF1A |
| Cleft lip | ADAM17, BMP6, CD44, CDH1, CRHR1, CYP1A1, ERBB2, FGFR1, FYN, GREM1, GSTM1, GSTP1, GSTT1, ITGB3, LIF, MAT2A, MICA, MMP1, MMP3, MTHFR, NAT2, NECTIN1, NOS3, PON1, TGFB2, FHIT, OGG1, PEMT |
| Cleft lip with cleft palate | SMAD2, TWIST1, SPRY2, CRISPLD2, OGG1 |
| Cleft palate | FOLR1 |
| Clitoromegaly | NR5A1 |
| Clonorchiasis | IFNG, IL10 |
| CLOVE syndrome | PIK3CA |
| Coagulopathy | SERPINE1 |
| Coffin-Siris syndrome | ARID1A |
| Cognitive function | BDNF |
| Colitis | APOE, CDH1, NOD2, SERPINE1 |
| Coloboma | YAP1 |
| Colon cancer | AURKA |
| Colonic diseases | CFTR |
| Colonic Neoplasms | OGG1, CYP24A1, PIK3CA |
| Colorectal cancer | BRAF, EPCAM, HLA-DQA1, HLA-DRB1, NRAS, PLA2G2A, SMAD7, TLR2, ADA, CDH3, PPARG, SMAD2, BAX, CTNNB1, KRAS, MLH1, MSH2, MSH6, SMAD4, TP53, KLRK1, ADIPOR1, FHIT, OGG1, PIK3CA |
| Combined immunodeficiencies | CD40, CD40LG |
| Combined proximal and distal renal tubular acidosis | CA2 |
| Combined SAP deficiency | PSAP |
| Common variable immunodeficiency | IL12, IL1RN |
| Complete androgen insensitivity syndrome (CAIS) | AMH, AR, PGDS, WT1 |
| Complete gonadal dysgenesis | NR5A1 |
| Complete mullerian agenesis | AMH |
| Complete testicular feminization | AR |
| Conduct disorder | EMX2, SLC6A4 |
| Cone-rod dystrophy | PROM1 |
| Congenital abnormalities | HOXA11, MTHFR |
| Congenital absence of the uterus and vagina (CAUV) | AMH, AMHR2, HOXA10, WT1 |
| Congenital absence of the vas deferens (CAVD) | EDNRA, TGFB1 |
| Congenital absence of vas deferens (CAVD) | CFTR |
| Congenital adrenal hyperplasia | AMH, FSHR, HLA-DQA1, HSD3B2, NR3C1, STAR, WNT4, CYP11A1 |
| Congenital adrenal insufficiency | CYP17A1 |
| Congenital bilateral absence of the vas deferens (CBAVD) | CFTR, EDNRA, MMP2, NOS2 |
| Congenital bile acid synthesis defect | AKR1D1 |
| Congenital central hypoventilation syndrome | BDNF |
| Congenital heart defects | GATA6, JAG1, KRAS |
| Congenital hydrocephalus | L1CAM |
| Congenital hypogonadotropic hypogonadism | FGFR1, INHB, SEMA3A |
| Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | PIK3CA |
| Congenital prothrombin deficiency | F2 |
| Congenital stromal corneal dystrophy | DCN |
| Congenital uropathies | ACE |
| Connective tissue diseases | COL5A2, CRH, CRHR1, CRHR2, CRP, CYP19A1, GSTP1, HSPA4, HSPA6, IFNG, IGF1, IGFBP3, IL10, IL18, IL1B, IL1RAP, IL1RN, IL2RA, IL2RB, IL6, MMP2, MMP3, NAT2, NOS3, PTGER2, PTGS2 |
| Corneal Dystrophies | TGFB1, ZEB1 |
| Corneal dystrophy | DCN |
| Coronary aneurysm | HLA-G |
| Coronary artery disease | ADAM17, AQP5, AR, COL4A2, FN1, GATA2, GC, HMOX1, IL13, LPAL2, PLA2G2A, SCARB1, SHBG, USF1, ADA, CCL11, CSF2, IL9, PEMT, OGG1 |
| Coronary disease | CXCR4, HSPD1, IL6R, IL6ST, LAMC2, OPRM1 |
| Coronary heart disease | AGER, AGTR1, CD36, PPARA, PON1 |
| Coronary spastic angina | RHOC |
| Coronary syndrome atherosclerosis | C4A |
| Coronory artery disease | ACE |
| Cowden syndrome | PIK3CA |
| Cowden syndrome 5 | PIK3CA |
| Craniofacial Abnormalities | PTEN |
| Craniometaphyseal dysplasia | GJA1 |
| Craniosynostosis | TWIST1, FGFR1, KRAS |
| CRASH syndrome | L1CAM |
| Creutzfeldt-Jakob disease | APOE, CTSD |
| Cri du chat | TERT |
| Crohn's disease | PPARG, ADAM17, AGR2, CCL2, CCR5, CDH1, COMT, CRP, CSF1R, CYP1A1, DNMT3A, FAS, FASLG, FCRL3, GSTM1, GSTP1, GSTT1, HLA-B, HLA-DRB1, HLA-G, ICAM1, IGHG1, IL10, IL11, IL13, IL16, IL17F, IL18, IL1B, IL1R1, IL1RN, IL2, IL2RA, IL4, IL6, JUN, LTA, MICA, MICB, MIF, MLH1, MMP1, MMP2, MMP3, MMP9, MTHFR, NAT2, NFKB1, NOD1, NOD2, NOS3, NR3C1, OPRM1, PON1, PTPN22, SERPINE1, SLC22A23, SMAD3, STAT3, STAT6, TGFB1, TIMP1, TIMP2, TLR2, TLR4, TNFRSF1A, TNFRSF1B, TYK2, VDR, ADA, RHOA, MST1, HLA-DRA |
| Crohn's disease ulcerative colitis | PON1 |
| Cryoglobulinemia | FN1 |
| Cryptorchidism | AHR, AR, CYP17A1, CYP1A2 , EGF, EGFR, ESR1, FAS, FOXO1, FSHR, HLA-DRB1, HOXA10, INHB, MIR135A1, MIS, NR5A1, SHBG, SRD5A2, WT1 |
| Cryptozoospermia | CASP3, CFTR, PGR |
| Cushing's syndrome | PIK3CA |
| Cutis laxa | ITGA6, LAMC2 |
| Cystic fibrosis | ACE, AMH, CFTR, EDN1, GSTM1, GSTP1, GSTT1, IL10, IL1A, IL1B, IL1R1, IL1RN, IL2, IL6, LTA, MIF, NOS2, NOS3, TGFB1, TLR4, TNF, TNFRSF1A, OGG1, ADIPOR2 |
| Deafness | KITLG, MET, TNC, UCN |
| Decidualization | EGFR, IL11 |
| Decreased ovarian reserve (DOR) | INHB |
| Decreased spermatogenesis | TGFA |
| Deep endometriosis | HSD17B2 |
| Deep infiltrating endometriosis | PGR, INHA, FST, CD40L |
| Deep infiltrating endometriosis (DIE), Focal adenomyosis | SPP1 |
| Deep vein thrombophilia | MTHFR |
| Deep vein thrombosis | ITGA2 |
| Deeply infiltrating endometriosis | WT1, VEGFA, KDR |
| Defective endometrial receptivity | FOXP3, ICAM1, IL22, LEP, MPO, RETN, TNFR1 |
| Defective human spermatozoa | H19, P16 |
| Defective spermatogenesis | AR |
| Defects in uterine receptivity | ESR1 |
| Delayed implantation | PGR |
| Dementia | ACE, AGTR1, AHR, APOE, BCHE, CYP2A6, ESR1, ESR2, IL1A, IL1B, IL6, LIF, MMP9, MTHFR, PARK7, PON1, SERPINE1, TGFB1, TNF, VEGFA, PPARG |
| Dentin dysplasia, type I, with microdontia and misshapen teeth | SMOC2 |
| Denys-Drash syndrome | WT1 |
| Depression | ACE, AGTR1, APOE, BDNF, CCL2, CLOCK, CNTF, COMT, CRH, CRHR1, CRHR2, CRP, CYP1A2, CYP2C19, DRD2, ESR1, ESR2, FKBP5, GSK3B, IL10, IL1B, IL6, ITGB1, LEP, MTHFR, NR3C1, NTRK2, OPRM1, OXTR, PLA2G4A, PPARG, PSMD9, PTGS2, SERPINE1, SLC6A4, VCAN, PON1, GHRL, FHIT, NPY |
| Dermatitis | CCL17, CCL5, CMA1, GATA3, GSTM1, GSTP1, HLA-A, HLA-DQA1, IFNG, IL10, IL13, IL16, IL18, IL1A, IL1RN, IL4, IL5, NAT2, NFKB1, NOD1, NOD2, STAT6, TLR9, TNF, CCL11, CSF2 |
| Dermatomyositis | CCL2, HLA-B, HLA-DQA1, HLA-DRB1, IGHG1, IGKC, IL1A, IL1B, TNF |
| Desmoplastic small round cell tumor | PIK3CA |
| Diabetes | A2M, ACE, ACP1, ADAM17, ADIPOQ, ADM, AGER, AGTR1, AHSG, AIF1, AKR1B1, AKT1, ANXA1, ANXA5, APOA1, APOA2, APOC1, APOE, AQP2, AR, BCHE, BCL2, CAPN5, CAT, CCL2, CCL5, CCR1, CCR5, CD36, CD40, CD69, CDKN2A, CETP, CFTR, CHEK2, CHI3L1, CMA1, COL18A1, COMT, COX2, CP, CRP, CTSB, CXCL12, CXCR4, CYP19A1, CYP1A1, CYP2C19, DRD2, EDN1, EGF, ERBB3, ESR1, F3, FAS, FASLG, FCRL3, FGF2, FOXO1, FOXP3, GALT, GC, GHRL, GPX1, GPX3, GRB14, GSTM1, GSTT1, HIF1A, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DRB1, HLA-G, HMOX1, HP, HSD11B2, HSD17B1, ICAM1, IFNG, IGF1, IGF1R, IGF2, IGFBP1, IGFBP2, IGFBP5, IGFBP7, IL10, IL12A, IL13, IL18, IL1A, IL1B, IL1R1, IL1RAP, IL1RN, IL2, IL2RA, IL2RB, IL4, IL6, IL6R, IRS2, ITGA2, ITGB3, KIR2DS4, KIR3DL1, LEP, LEPR, LPA, LPAR3, LTA, MET, MICA, MIF, MMP1, MMP2, MMP3, MMP9, MPO, MTHFR, NAT2, NFKB1, NOS2, NOS3, NOTCH4, NR0B2, NR3C1, NR5A1, NRP1, OPRM1, PGM1, PIK3R1, PLA2G4A, PLAU, PON1, PPRC1, PSMD9, PTEN, PTGES2, PTGS2, PTPN22, RETN, RND3, SCARB1, SELE, SHC1, SMAD3, SMAD4, SOCS3, SOD1, SPINK1, SRD5A2, TBX21, TGFB |
| Diabetes mellitus | CDH3 |
| Diabetes mellitus, noninsulin-dependent | HNF1B |
| Diabetic angiopathy | PPARG |
| Diabetic nephropathy | ACE, AGER, EDN1, IGFBP1, IL1B, LTA, MTHFR, NOS3, SERPINB2, SERPINE1, SOD1, TGFB1, TNF, VEGFA, XYLT2 |
| Diabetic neuropathy | CAT, GPX1, GSTM1, GSTT1 |
| Diabetic retinopathy | EDN1, HLA-DQA1, HLA-DRB1, HP, ICAM1, IGF1, ITGA2, ITGB2, LTA, MMP2, MMP9, MTHFR, NOS3, SELE, SERPINE1, TNF, PON1, TIMP3 |
| Diabetic stroke | AKR1B1 |
| Diabetis mellitus | IGFBP7 |
| Diffuse panbronchiolitis | HLA-DRB1, HLA-A, HLA-B |
| DiGeorge syndrome | COMT |
| Dilated cardiomyopathy | HLA-DQA1, HLA-DRB1 |
| Diminished ovarian reserve | BDNF |
| Diminished ovarian reserve (DOR) | AMH, BDNF, CASP3, ESR1, FSHB, FSTL3, GDF9, GREM1, IRS2, LHCGR, NGF, PGRMC2, PTGER3, STAR, VCAN, IGF1R |
| Diminished ovarian reserve (DOR) | PTGS2 |
| Disorders of sexual development (DSD) | AMH |
| Disorders of spermatogenesis | ACE, AMH, FST, INHB, LTA |
| Disorders of the endometrium | IL1B |
| Distal hereditary motor neuropathies | HSPB1 |
| Distal myopathy | TIA1 |
| Down syndrome | APOE, MTHFR, NOS3, SLC6A4, TNF |
| Dry eye syndrome | ESR1, MUC1 |
| Duodenal ulcer | IL1B, IL1RN |
| Dupuytren contracture | TIMP2, WNT2 |
| Dupuytren's disease | TGFB2 |
| Dysgenetic gonads | AR |
| Dyskeratosis congenita | TERT |
| Dyskinesias | GPX1, GSTP1 |
| Dyslexia | DRD2 |
| Dyslipidemia | ACE, APOE, AR, CETP |
| Dysmenorrhea | AMH, CYP1A1, OXTR, TGFB1, TRPV1, TNF, STX5, PAEP, MUC16, LAMA1 |
| Dyspepsia | CYP2C19, SLC6A4 |
| Dyspermia | GHRL |
| Dysphoria | SLC6A4 |
| Dysthymia | IL1A, IL1B, IL1RN |
| Dystonia | ACTB, HLA-DRB1, TP53 |
| Early onset periodontitis | IL1A |
| Eating disorders | BDNF, COMT, SLC6A4, GHRL |
| Ectodermal dysplasia syndactyly syndrome | NECTIN4 |
| Ectopic endometrial implants | LHCGR |
| Ectopic endometriosis | MIF, NFKB1, NOS2, TIMP1, LHCGR, CGA, MMP9, TNF, IL8, IL6, FAS, BCL2 |
| Ectopic endometrium of adenomyosis | ITGB3, OPN |
| Ectopic pregnancy | CTNNB1, HCG, VEGFA |
| Eczema | FCER1G, IL4, IL5, STAT6 |
| Ehlers-Danlos syndrome | COL5A2, GSTM1, GSTT1, PLOD1 |
| Ejaculatory dysfunction | PRL, PRLR |
| Embryo development | G-CSF, PAPPA |
| Embryo implantation | IGF1R, IGF2, LIF, PROK1, TGFB1, VEGFA |
| Embryo implantation failure | MUC1 |
| Emphysema | CYP2A6, HMOX1, TNF |
| Emphysema due to AAT deficiency | SERPINA1 |
| Emphysema-cirrhosis, due to AAT deficiency | SERPINA1 |
| Empty follicle syndrome | LHCGR |
| Encephalocraniocutaneous lipomatosis | FGFR1 |
| Encephalopathy | CYP1A1, GSTM1, GSTP1, GSTT1, SERPINE1 |
| Endocrine dysfunction | XRCC4 |
| Endometrial cancer | CA125, BCL2, MSH6, TLR3, TLR4, WT1, AGTR1, AHR, AKT1, ANXA2, BIRC5, APOE, FAS, FASLG, AR, STS, ATM, AXL, BGN, BTEB1, RUNX3, CD36, CDKN1B, CHI3L1, COMT, CLDN4, CRH, CRHR1, CRHR2, CRP, CSF1, CTSB, CYP1A2, CYP11A1, AKR1C1, AKR1C2, DNMT1, DNMT3A, DNMT3B, EMX2, ENG, ENO1, ERBB3, EZH2, FGF1, FGFR1, VEGFD, FLT1, FLT3, FLT4, FOLR1, NR5A1, GHRH, GCCR, CXCL1, HLA-A, HLA-G, HMGA1, HSD3B2, IGFBP7, CYR61, IL1A, IL1, IL2, IL4, IL11, IL17A, JAK1, LAMC2, SMAD7, MCL1, CD10, MMP14, MSI1, MUC1, MUC4, NOTCH4, PAPPA, PAX2, PRL, S100P, TF, TIMP4, XRCC1, IRS2, GDF15, MIR145, MIR200A, MIR93, MIR21, MIR424, KRAS, CTNNB1, ERBB2, PTEN, TP53, MLH1, COX2, ANXA1, RELA, IFNG, TP63, CYP19A1, PCNA, SULT1E1, PIK3CA, MSTN |
| Endometrial carcinoma | PCNA, MMP9, MMP2, CTNNB1, CDH1 |
| Endometrial decidualization | FOXO1 |
| Endometrial defects in adenomyosis | OPN |
| Endometrial hyperplasia | ESR1 |
| Endometrial hypoplasia | SERPINE1 |
| Endometrial polyp | CYP19A1, p63, RELA, VEGFA |
| Endometrial polyposis | IFNG |
| Endometrial receptivity | ITG, ITGB3, LEP, LIF, MUC1, PAEP, PLA2G2A, VEGFA |
| Endometrioma | MUC16, IL8, IL6, IL17A, IL10 |
| Endometriosis | HLA-DQB1, EPO, JAK2, F2, INS, STAT5A, MAPK8, CREB1, CD34, HGF, A1BG, A2M, ABCC4, ABCG2, ACE, ACP1, ACTB, ACTN4, ADA6, ADIPOQ, AFM, AGR2, AGTR1, AHR, AHRR, AHSG, AIF1, AKR1B1, AKR1C3, AKT1, ALPL, AMH, AMHR2, ANG, ANGPT1, ANXA1, ANXA2, ANXA4, ANXA5, APEX1, APOA1, APOA2, APOE, AQP2, AQP5, AQP8 , AR, ARHI, ASTN2, AT1, ATAD3A, ATM, ATP1B4, AURKA, AVP, AXL, AZGP1, BAF250a, BAX, BCHE, BCL2, BCL2L1, BCL6, BCLX, BDNF, BGN, BLMH, BMP4, BMP6, BMPR1B, BRAF, BRCA1, IL6, BTEB1, C3, C4, CA125, CA2, CAB39L, CADM1, CADM2, CASP1, CCDC21, LTF, CCL16, CCL17, CCL19, CCL2, CCL21, CCL5, CCND1, CCR1, CD10, CD133, CD147, CD18, CD23, IL1B, CD36, CD40, CD40L, CD44, CD54, CD56, CD95, CDH1, CDKN1A, CDKN1B, CDKN2A, CDKN2BAS, CDX1, CETP, CFL1, CFTR, CHK2, CHST2, CLDN3, CLDN4, CLDN5, CLDN7, CLOCK, COL18A1, COMT, COPS5, COX1, COX2, CP, CRF, CRH, CRHR1, CRHR2, CRK, CRMP2, CRP, CRYAB, CSF1, CSF1R, CTNNA2, CTNNB1, CTSB, CTSD, CTSG, CX3CL1, GJA1, CXCL1, CXCL10, CXCL12, CXCL13, CXCL14, CXCL16, CXCL8, CXCR1, CXCR2, CXCR3, CXCR4, CXCR6, CYP17A1, C |
| Endometriosis (Deep infiltrating, ovarian endometriosis) | MSTN |
| Endometriosis (ectopic) | LHCGR, CGA |
| Endometriosis (ovarian) | COL4A2, COL5A2, CYP2A6, AKR1C1, AKR1C2, FCER1G, CXCL2, HSP90AA1, NDUFS1, PGDS, PTX3, RARRES1, SHBG, SNCG, SRD5A2, AKR1D1, PSMD10, RASSF2, SPOCK2, FSTL3, GBGT1, SLCO4A1, ADAM22, TRIM36, GATA5, SPRY2, VEGFA, UCN, TNF, SRC, PLA2G2A, PAEP, LEP, IL8, IL6, IL10 |
| Endometriosis (Pelvic) | CNTF, KIR2DL1, MUC16, MMP2, LEP |
| Endometriosis (Peritoneal) | VCAN, PRL, MUC16 |
| Endometriosis and adenomyosis | CCND1 |
| Endometriosis associated infertility | VEGFA, VDR, TYK2, TNFSF13B, TNF, TLR4, TLR2, TF, SPP1, SPINK1, SOD1, SERPINA1, PRL, PGR, NOS2, NAG, MUC4, MUC2, MUC17, MUC16, MUC1, MTHFR, MPO, MMP9, MMP2, MIR29C, MIR200A, MIR145, MIF, LPO, LOXL4, LIF, LHB, LEP, LAMA1, ITGAV, INHBA, INHA, IL6, IL1RAP, IL1R2, IL1B, IL17A, IL11, IGFBP3, IGFBP2, IGF1, IFNG, ICAM1, HSD17B1, HOXA11, HOXA10, HLA-DRB1, FSHB, FOXP3, FCRL3, FASLG, ESR2, ESR1, EDN1, DRD2, CYP19A1, CTNNB1, CSF1, COMT, CLU, CDH1, CCL2, CCL19, C3, BDNF, APOE, APCS, ANXA4, A2M |
| Endometriosis,Infertility | MUC16, IL8, IL6 |
| Endometriosis-associated ovarian carcinoma | RUNX3, CYP2A6 |
| Endometriosis-associated ovarian carcinoma, Ovarian endometrioid cancer (OEC) and ovarian clear cell cancer (OCCC) | SPOCK2, RASSF2, NDUFS1, GSTZ1 |
| Endometriosis-related dysmenorrhea | FGFR1 |
| Endometriotic and adenomyotic tissues | P16, PRB, RB1 |
| Endometriotic lesions | IL1A, MMP1, PTGS2 |
| Endotoxemia | TLR4, TNF |
| Enolase deficiency | ENO1 |
| Enterocolitis | ITGB2, TNF |
| Eosinophilia Myalgia Syndrome | HLA-DQA1 |
| Eosinophilic esophagitis | TSLP |
| Eosinophilic granulomatosis with polyangiitis | IL10 |
| Epidermal necrolysis | HLA-A, HLA-B, HLA-C |
| Epidermolysis bullosa | ITGA6, LAMC2, MMP1 |
| Epilepsy | ABCG2, APOE, BDNF, CYP2C19, HLA-DRB1, HP, IL1A, IL1B, IL1RN, KHDRBS3, NTRK2, OPRM1, SLC6A4 |
| Epileptic encephalopathy | PLCB1 |
| Epistaxis | ITGB3, MTHFR |
| Epithelial ovarian carcinoma | MUC16 |
| Erectile dysfunction | ACE, AR, CRP, FSHR, MTHFR, NOS3 |
| Erythema nodosum | ICAM1, IL13, IL1A, IL6 |
| Erythrocytosis | HIF1A |
| Esophageal achalasia | NOS2 |
| Esophageal adenocarcinoma | SMAD2 |
| Esophageal cancer | CCND1, CDKN2A, EGFR, FAS, NOS2, PTGS2, RB1, TP53, OGG1, KLRK1, FHIT, MIR196A2, PIK3CA |
| Esophagitis | CYP2C19, STAT6 |
| Essential thrombocythemia | JAK2 |
| Exfoliation syndrome | GSTM1, LOXL1, MTHFR |
| External gential endometriosis | VEGFA, TGFB1, IL6, IL2, IL1B |
| Extranodal disease | FAS |
| Extrapelvic endometriosis | VEGFA |
| Extrauterine pregnancy | HCG |
| Eye diseases | CYP1A1, GSTM1, GSTP1, GSTT1, HLA-A, HLA-B, HLA-C, HLA-DRB1, MPO, WT1 |
| Fabry disease | TNF, VDR |
| Fallopian tube cancer | BRCA1, BRCA2, ERBB2, MYC |
| Familial amyloidosis | IL1RN, APOA1, FGA |
| Familial combined hyperlipidemia | USF1 |
| Familial combined hyperlipoproteinemia | APOA1 |
| Familial idiopathic ventricular fibrillation | DPP6 |
| Familial partial lipodystrophy | PPARG |
| Fanconi anemia | BRCA2 |
| Fatigue syndrome | CRHR1 |
| Fatty liver | APOE, GSTM1, GSTP1, GSTT1 |
| febrile seizures | GJA1, IL1B, IL1RN |
| Female infertility | ADAM17, AMHR2, ANGPT1, ANXA4, ANXA5, APOA1, AR, AZGP1, C5, SERPINA6, CD158a, CDH1, CSF1, CTSB, CXCL1, CYP19A1, CYP2B6, EDN1, ESR1, ESR2, F5, FOLR1, FOXO1, FSHB, FSHR, GALT, GATA2, GPX3, HLA-DRB1, HMGB1, HO-1, HOXA10, HOXA11, HSD17B1, HSP60, IFNG, IGFBP2, IGFBP3, IL10, IL11, IL1B, IL-1RA, INFG, INHB, ITGA4, ITGAV, ITGB1, ITGB3, JAGGED1, KL1, LEP, LEPR, LHB, LIF, MIF, MMP2, MMP9, MTHFR, NGF, NOS3, NOTCH1, NR5A1, OPG, PAEP, PAPPA, PGM1, PGR, PON1, PPARG, PRL, PSA, PTX3, RAGE, SCARB1, SERPINE1, SHBG, SOD1, SPP1, TGFB1, TLR2, TNF, TNFSF11, TSH, VCAN, VDBP, VEGFA, KDR, WNT5A, TIMP1, STX5, STS, STAT6, SEMA3C, PNP, OLFM1, NPTX2, NOS2, NFKB1, MUC16, MUC1, LIFR, LHCGR, LGALS9, LAMA1, KHDRBS3, INHBA, IL8, IL6ST, IL6, IL4, IL23A, IL2, IL1R2, IL1R1, IL1A, IL15, IGFBP1, ICAM1, HSPD1, G0S2, FOXP3, FN1, FASLG, EFNA1, DKK1, CXCL10, COL4A1, CHST2, CCR5, CCR1, CCL5, CCL2, C4BPA, C3, AMH, ADIPOQ |
| Female pseudohermaphroditism | CYP19A1 |
| Female pseudohermaphroditism | GR |
| Femoral Neck Fractures | MTHFR |
| Femur Head Necrosis | ANXA5 |
| Fertile eunuch syndrome | LHB |
| Fertility disorders | MIF |
| Fertilization capacity | RLN1 |
| Fertilization failure | LHB |
| Fertilization rate | GREM1, LTF |
| Fertilizing defects | OLFM4 |
| Fetal growth retardation | GSTM1, GSTT1, IGF1, IGFBP3, MTHFR |
| Fetal loss | CYP1A2, HLA-C, NAT2, SERPINE1 |
| Fibromatosis | CTNNB1 |
| Fibromyalgia | COMT, SLC6A4 |
| Fibrosis | HLA-C, TGFB1, TNF |
| Focal cortical dysplasia | MTOR |
| Focal segmental glomerulosclerosis | ACTN4 |
| Follicle center lymphoma | BCL6 |
| Follicular defects | PGRMC1 |
| Follicular development | C3, CXCL12, HP, CSF1, PAPPA, TF, ZAG |
| Follicular lymphoma | BCL2, EZH2 |
| Forebrain defects | TDGF1 |
| Frasier syndrome | WT1 |
| Fredrickson hyperlipoproteinemia | APOE |
| Fuchs heterochromic cyclitis | TNF |
| Fuchs' Endothelial Dystrophy | ZEB1 |
| Fuhrmann syndrome | WNT7A |
| Functional androgenization (FA) | AMH |
| Functional hypothalamic amenorrhea | BDNF, CRH |
| Functional ovarian hyperandrogenism | PPARG |
| Galactosemia | GALT |
| Gallbladder cancer | CDKN2A, KRAS |
| Gallbladder diseases | IL10 |
| Gastric atrophy | IL13, IL2, IL4 |
| Gastric cancer | IL1B, IL1RN, BCL2, CD44, CDH1, CTNNB1, EGF, EGFR, ERBB2, KRAS, MET, TP53, VEGFD, OGG1, MIR196A2, PIK3CA |
| Gastric disease | CAT, CYP2C19, GSTM1, GSTP1, GSTT1, IL10, IL1B, MPO |
| Gastric mucosa | IL17A, MIF |
| Gastroesophageal reflux disease | CYP2C19 |
| Gastrointestinal cancer | OGG1 |
| Gastrointestinal diseases | FGF2 |
| Gastrointestinal disorders | SLC6A4 |
| Gastrointestinal Stromal Tumors | ABCG2 |
| Gastroschisis | ICAM1, NOS3 |
| Gastrotintestinal stromal tumor | KIT, PDGFRA |
| Gaucher disease | ACE, IL6, MTHFR, TNFRSF11B |
| Gaucher disease, atypical | PSAP |
| Genital diseases | COMT, CYP1A1, GSTM1, GSTP1, GSTT1, MTHFR |
| Genital endometriosis | IGF1, IL1B, IL6, MMP3, MMP7, MMP9 |
| Genital malformation | HNF1B |
| Gential endometriosis | IL1B, IL2, IL6, TGFB1, VEGFA |
| Germ cell tumors | KIT |
| Giant cell arteritis | HLA-DRB1, PTPN22, CD40 |
| Giant cell tumor of bone | TP53 |
| Gigantism | GHRH |
| Gingival overgrowth | TGFB1 |
| Gingivitis | IL18, IL1A, MMP9, TNF |
| Glanzmann thrombasthenia | ITGB3 |
| Glaucoma | AGTR1, APOE, CDH1, CDKN1A, CMA1, CYP1B1, CYP26A1, EDN1, EDNRA, GSTM1, GSTP1, GSTT1, IGF2, IL1RN, MMP9, MTHFR, NOS3, PON1, PTGFR, SERPINE1, TEK, TGFB1, TNF, TP53, XRCC1 |
| Glioma | CDKN2A, EGFR, PDGFA, PDGFRA, PTEN, RB1, TP53 |
| Globozoospermia | RB1 |
| Glomerulonephritis | ACE, AGTR1, AKR1B1, APOE, CCR5, CETP, EDN1, ESR1, FGA, HLA-A, HLA-B, HLA-DQA1, HLA-DRB1, HMOX1, ICAM1, IL10, IL18, IL1A, IL1B, IL1RN, IL6, ITGA2, ITGB2, LTA, MMP12, MMP7, MMP9, MPO, MTHFR, NOS3, NOTCH4, PON1, PPARA, RETN, SERPINE1, TGFB1, TNF, PPARG, SOX15 |
| Glomerulopathy | AKR1B1, FN1 |
| Glomerulosclerosis | MMP14, PAX2, WT1 |
| Glossitis | TNF |
| Glucocorticoid-induced osteonecrosis | NR3C1, SERPINE1 |
| Glycogen storage disease | PGM1 |
| Glycoprotein deficiency | ITGA2 |
| Gonad development | GPX1, HSPB1, TIMP3, TXN |
| Gonadal dysfunction | INHB |
| Gonadal dysgenesis | HLA-A, HLA-B, HLA-DR, IGF1, NR5A1 |
| Goodpasture's disease | HLA-DRB1 |
| Gout | ABCG2, APOA1, COMT, IL6, TNF |
| Graves disease | APEX1, C4A, CD40, CD40LG, CYP1A1, ESR2, FASLG, FCRL3, FOXP3, GC, GSTP1, HLA-B, HLA-DQA1, HLA-DRB1, ICAM1, IFNG, IL13, IL16, IL18, IL1A, IL1B, IL1RN, IL2, IL2RA, IL4, IL6, KIR2DL1, KIR2DS4, KIR3DL1, LTA, MICA, PTPN22, SELE, STAT6, TNF, TP53, VDR, PPARG, KIR3DS1 |
| Graves ophthalmopathy | ICAM1, IL12, IL1A, IL1B, IL1R1, IL2, IL6 |
| Growth disorder | IGF1R, IGFBP3, PPARG |
| Guillain-Barre syndrome | APOE, HLA-DQA1, HLA-DRB1, NR3C1, TLR4, TNF, CD1a |
| Gynecomastia | CYP19A1, IGF1 |
| Haematospermia | AMH |
| Hairy-cell leukemia | BCL6, CCND1, TP53 |
| Hallucinations | COMT |
| Hamartoma tumor syndrome | AKT1 |
| Harel-Yoon syndrome | ATAD3A |
| Hartsfield syndrome | FGFR1 |
| Hashimoto's thyroiditis | TNF, VDR, HLA-DQA1, HLA-DRB1 |
| Hay-Wells syndrome | TP63 |
| Head and Neck Neoplasms | MIR196A2, OGG1 |
| Head and neck squamous cell cancer | TP53 |
| Headache | COMT |
| Hearing loss | CAT, CHST2, CYP1B1, GJA1, GSTM1, ITGB3, MTHFR, PON1, PPARG, PTGS2, SERPINE1, SULT1E1 |
| Heart defects | FOLR1, DCN, CYP24A1, MIR196A2 |
| Heart disease | AKR1B1, KRAS, LPA, OLFM4, PPARG |
| HELLP syndrome | FAS, MTHFR, NOD2, NR3C1, RELA |
| Hemangioma | KDR |
| Hematologic cancer | OGG1 |
| Hematologic diseases | CYP2C19, NOD2 |
| Hemifacial Spasm | MTHFR |
| Hemochromatosis | BMP4, HAMP, HLA-DRB1, NOD2, TGFB1, TNF |
| Hemoglobinuria | HLA-A, HLA-B, HLA-C, HLA-DRB1 |
| Hemolytic anemia | GPX1 |
| Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency | GCLC |
| Hemolytic uremic syndrome | ITGA2, ITGB3, MTHFR, SERPINE1 |
| Hemophilia A | HLA-A, HLA-B, HLA-C, HLA-DRB1, IL10, IL18, IL1B, IL4, MTHFR, SERPINE1, TNF |
| Hemorrhage | COL4A2 |
| Hemorrhagic telangiectasia | ENG |
| Hemosiderosis | CP |
| Henoch-Schonlein purpura | IL1B, NOS3, PAX2, TGFB1, TNF, VEGFA |
| Hepatic angiosarcoma | KRAS, TP53 |
| Hepatic veno-occlusive disease | GSTM1, GSTP1, GSTT1 |
| Hepatocellular carcinoma | MET, PIK3CA, CDH1, CDKN2A, CTNNB1, KRAS, NRAS, PTEN, RB1, TP53 |
| Hepatopulmonary syndrome | CCL2, SMAD2 |
| Hereditary hemorrhagic telangiectasia | ENG, SMAD4 |
| Hereditary neuralgic amyotrophy | 09-Sep |
| Hereditary pancreatitis | CFTR |
| Hereditary sensory and autonomic neuropathy | NGF |
| Hereditary spastic paraplegia | HSPD1, L1CAM |
| HESC decidualization | TGFB1 |
| Hirschsprung's disease | IHH |
| Hirsutism | SRD5A1, HSD3B2, LHB |
| Hodgkin Disease | CD40, ATM, IL13, IL9 |
| Hodgkin lymphoma | FAS |
| Holoprosencephaly | APOE |
| Homocystinuria | FOLR1, MTHFR |
| Human sperm capacitation | IGF1R |
| Human spermatogenic defect | COMT, CYP1B1, ESR2 |
| Humoral immunodeficiencies | DNMT3B |
| Huntington's disease | BDNF, HDAC1, UCHL1 |
| Hydrocephalus | L1CAM |
| Hydrosalpinx | CDH1, CFTR, Flt-1, ITGB3, LIF, MUC1, NFKB1, VEGFA |
| Hyper IgM syndromes, autosomal recessive type | CD40 |
| Hyperalphalipoproteinemia | CETP |
| Hyperandrogenism | SRD5A1, ADIPOQ, AKR1C3, CYP11A1, CYP17A1, CYP19A1, FSHR, HSD3B2, IL6, LHCGR, NR3C1, PPARG, ADM, RAGE, AKT1, MIS, AR3, BAX, BCL2, BMP4, AVP, AKR1C1, FOXO1, FOS, GDF9, HLA-G, ICAM1, IGF1, IGF1R, IGF2, IGFBP1, IGFBP2, IGFBP3, HGF, IL6R, IL10, IL18, LGALS3, LHB, LIF, MIF, MMP2, PON1, PRL, PTX3, SHBG, SRD5A2, STAR, TNF, TNFRSF1B, VDR, WT1, LATS1, GREB1, YAP1, DKK1, WNT4, APOA1 |
| Hyperapobetalipoproteinemia | PPARA |
| Hyperbilirubinemia | SLCO2A1 |
| Hypercalcemia | CYP24A1, VDR |
| Hypercalcemia infantile | CYP24A1 |
| Hypercholesterolemia | ADIPOR2, PIK3CA, NPY, AGTR1, APOA2, APOE, CETP, NOS3, PON1, SCARB1 |
| Hyperemia | NOS3 |
| Hypereosinophilic syndrome | PDGFRA |
| Hyperglycemia | NOS3 |
| Hyperglycemia hypertension | PON1 |
| Hypergonadotropic hypogonadism | APOA1, CYP17A1, CYP19A1, FSHR, HSD17B3, INHA, LEP, WT1 |
| Hyperhomocysteinemia | APOE, COMT, MTHFR, PON1 |
| Hyperlipidemia | APOA1, APOE, CETP, PPARA, SPINK1, TNF, USF1 |
| Hyperlipoproteinemia | APOE, SCARB1 |
| Hyperlipoproteinemias | CETP |
| Hyperparathyroidism | CCND1, SPINK1, VDR, HGF |
| Hyperphagia | AKR1C2 |
| Hyperpigmentation | KIT |
| Hyperplasia | BAX |
| Hyperprolactinemia | PGR, PRLR |
| Hypersensitivity | CHI3L1, GATA3, HLA-A, HLA-B, IL10, NOD2, TGFB1, TLR4, TNF |
| Hypertension | ADIPOR1, NPY, ACE, ADIPOQ, ADM, AGTR1, ANG, ATM, BMP6, BMPR1B, CAT, CHI3L1, CRHR1, CYP11A1, CYP1B1, FSHR, GDF15, GSTP1, HSD11B2, HSD17B7, IGF1, IGF2, IL5, LEPR, NOS2, PTGES, PTGS2, SAA1, SERPINE1, SMAD3, SMAD4, TNF, ADA, CSF2, HGF, PPARG, SMAD2 |
| Hypertensive pregnancy disorders | FLT1 |
| Hyperthyroidism | VDR |
| Hypertriglyceridemia | APOA1, APOA2, APOE, CETP, PPARA, PPARG, USF1 |
| Hypertrophy | ANG, C3, HPGD, PPARG |
| Hypertrypsinemia | CFTR |
| Hyperuricemia | APOA1 |
| Hypoalphalipoproteinemia | APOA1 |
| Hypoceruloplasminemia | CP |
| Hypodontia | TGFB1 |
| Hypodysfibrinogenemia | FGA |
| Hypogonadism | AR, FSHB, IGF1, LHB |
| Hypogonadotropic hypogonadism | AMH, FGFR1, FSHB, FV, GPR54, NOS3, INHB, LEP, LHB, NR5A1, SOX2, VDR |
| Hypomagnesemia | EGF |
| Hypomenorrhea | ESR1 |
| Hypomyelinating leukodystrophy | HSPD1 |
| Hypoparathyroidism | GATA3, PTPN22 |
| Hypopituitarism | SOX2, GHRH, LHB |
| Hypoplastic left heart syndrome | EDN1, GJA1 |
| Hypospadias | AHR, AKR1B1, AR, BMP4, CYP17A1, CYP1A2, ESR1, ESR2, FKBP4, HSD17B3, HSD3B2, MIS, NR5A1, SRD5A2, WT1 |
| Hypospermatogenesis | COX2, CPP32, FASL, IL1B, INHB, MCL1, NOS2, NR5A1, PCNA |
| Hypothalamic amenorrhea | IL6, INHB, LEP |
| Hypothyroidism | HLA-A, HLA-B, LTA, TNF |
| Hypoxia | HIF1A |
| Ichthyosis | STS |
| Ichthyosis, X-linked | STS |
| Idiopathic asthenozoospermia | LF, LEP, MIR122, MIR141, NOS3 |
| Idiopathic azoospermia | FSHB, GSTM1, GSTP1, KIT, SRD5A2, XRCC1, FAS, FASLG, HLA-B44 |
| Idiopathic infertility | eNOS, HOXA-10, HOXA-11, TNF, LEP |
| Idiopathic inflammatory myopathies | IFNG |
| Idiopathic male infertility | APEX1, CYP1A1, CYP2B6, DICER1, FSHB, GSTM1, H19, IGF2, MMP2, NOS3, PEMT, TLR2, TLR4 |
| Idiopathic male infertility | NAT2 |
| Idiopathic micropenis | NR5A1 |
| Idiopathic nonobstructive azoospermia | ATM |
| Idiopathic oligoasthenozoospermia | GPX1, SOD1 |
| Idiopathic premature ovarian failure (POF) | ACTB, GALT |
| Idiopathic pulmonary fibrosis | MICA, MMP1, TERT |
| Idiopathic recurrent pregnancy loss | CASP3, FAS, H19, IL18 |
| Idiopathic spermatogenetic failure | CFTR |
| Idiopathic thrombocytopenic purpura | TGFB1 |
| Immune infertility | CXCL8, HLA-DQA1, HLA-DR, IL12, RANTES |
| Immune system diseases | TGFB1 |
| Immune infertility | TNF |
| Immunodeficiency | NFKB2, PIK3R1, CD40 |
| Immunodeficiency due to purine nucleoside phosphorylase deficiency | PNP |
| Immunodeficiency syndromes | TYK2 |
| Immunodeficiency, developmental delay, and hypohomocysteinemia | NFE2L2 |
| Immunodeficiency, X-linked, with hyper-IgM | TNFSF5 |
| Impaired endometrial receptivity | ER, ITGAV |
| Impaired infertility | HOXA11 |
| Impaired receptivity of endometrium | PGR |
| Impaired reproduction | MMP2, MMP9, TIMP1 |
| Impaired spermatogenesis | AR, KIT, ESR1, ESR2, FSHB, FSHR, GSTM1, GSTT1, IL1, IL1A, IL-1RA, IL6, INHB, MLH1, PMS2, SCF, TNF, TNFR1, TNFR2 |
| Impaired testosterone synthesis | HSD17B3 |
| Implantation defects | TIMP2, SEMA3C, PNP, PAEP, OLFM1, NPTX2, MMP9, MMP2, MMP14, MEIS1 , KHDRBS3, INHA, IL15, HOXA11, HOXA10, G0S2, EFNA1, DKK1, CHST2, C4BPA, BIRC5, ANG |
| Implantation failure | MEIS1, ADIPOQ, ANG, COX2, CRP, CXCR4, DKK1, FGF1, FST, PAEP, HB-EGF, HCG, HER1, HLA-G, HMGB1, IFNG, IL10, IL12, IL18, IL1B, IL2RA, INHB, ITGAV, ITGB1, ITGB3, LAMA1, LEPR, LIF, MMP2, MMP7, MMP9, MTHFR, MUC4, NFKB1, PRL, SERPINE1, TIMP1, TIMP3, TP53, VCAM1, VEGFA, G0S2, EFNA1, OLFM1, KHDRBS3, PLAU, HOXA11, NPTX2 |
| Implantation rate | IL2 |
| Incomplete maturation arrest | IL-1RA |
| Infantile genitalia | CYP17 |
| Infantile hemangioma | KDR |
| Inflammation | CCL5, CRP, FKBP5, FPR1, IL2RA, IL6, TGFB1, TNF, CSF2 |
| Inflammatory bowel disease | MST1, APOE, C3, HLA-DRB1, ICAM1, IFNG, IL1R1, IL1RN, IL5, IL6, IRS2, ITGB3, MLH1, MTHFR, NAT2, NFKB1, NOD1, PTGS2, SERPINE1, TGFB1, TLR4, VDR, VEGFA, ADAM17, CCR5, HMOX1, IL10, IL1B, IL2, IL2RA, IL2RB, KRAS, NOD2, PGM1, PPARG, RARRES2, SMAD2 |
| Inflammatory process of male genital tract | MMP12 |
| Inherited thrombophilia | F2, FGA |
| Insomnia | CLOCK |
| Insulin resistance | CCND1, IGF1, IL6, LTA, NOS3, OLFM4, RETN, SERPINE1, STAT3, TNF |
| Intraperitoneal adhesion formation | MCP-1 |
| Intrauterine growth retardation | FLT1, MTHFR |
| Irritable bowel syndrome | IL10, IL1A, IL1B, IL1R1, IL1RN, IL6, OXTR, SLC6A4 |
| Ischemic heart disease | AGER, APOE, GPX3, HIF1A, IL1B, ITGA3 |
| Ischemic macroangiopathy | AKR1B1 |
| Isolated orofacial clefts | BMP4, FGFR1, MTHFR, NECTIN1, TP63 |
| Isolated penile hypospadias | AR |
| Jackson-Weiss syndrome | FGFR1 |
| Jaw abnormalities | MKI67, PAK1 |
| Juvenile arthritis | ESR1, FOXP3, HLA-A, HLA-DQA1, HLA-DRB1, IFNG, IL10, IL12A, IL13, IL18, IL1A, IL1B, IL1R1, IL1RN, IL2, IL2RA, IL4, IL6, MIF, PRL, PTPN22, SERPINA6, TGFB1, TNF, TNFRSF1A, VDR |
| Juvenile dermatomyositis | HLA-DQA1 |
| Juvenile endogenous attack-like psychoses | COMT |
| Juvenile polyposis syndrome | SMAD4 |
| Kallmann syndrome | FGFR1 |
| Kaposi's sarcoma | BCL2, IL6, KRAS, MYC, TP53 |
| Kawasaki disease | CD40, HMOX1, IL10, IL1B, IL1RN, IL4, IL6, KDR, NOS3, TNF, VEGFA |
| Keloid disease | TGFB1, TGFB2, TP53 |
| Kennedy's disease | AR |
| Keratoconus | IL1A, IL1B, IL1RN |
| Keratosis | APOE, GSTM1, GSTP1, GSTT1, GSTZ1, PIK3CA, TP53 |
| Keratosis, seborrheic | PIK3CA |
| Kidney disease | ABCC4, ACE, ADIPOQ, AGER, AGTR1, ANXA5, APOA1, APOE, CD36, CETP, CMA1, COMT, CTSG, EDN1, EDNRA, EGFR, ENG, ESR1, F3, GPX1, HMOX1, ICAM1, IFNG, IL10, IL1B, IL2, IL6, LTA, MTHFR, PON1, TGFB1, TNF, VDR, VEGFA |
| Kidney diseases | STC1, CCL11 |
| Kidney Failure | CSF2, CCL11, SPRY2 |
| Klinefelter syndrome | AMH, AR, INHA, STAR, UCHL1 |
| Knobloch syndrome | COL18A1 |
| Krabbe disease, atypical | PSAP |
| L1 syndrome | L1CAM |
| Lacunar infarction | IL6 |
| Laron dwarfism | IGF1 |
| Laryngeal cancer | CCND1, CDKN2A, EGFR, MYC, TP53 |
| Late onset congenital adrenal hyperplasia (LOCAH) | AMH |
| Late-onset adrenal insufficiency | CYP11A1 |
| Late-onset hypogonadism (LOH) | AR |
| Late-onset hypogonadism(LOH) | NOS3 |
| Learning Disorders | APOE |
| Left ventricular hypertrophy | PPARG |
| Leiomyoma | OGG1, ACE, GSTM1, IFN-gamma, IL1B, MMP2, MMP9, TGFB1, TNF, XRCC4 |
| Leiomyomas | MUC16, ESR1, EGFR, CYP2B6, ACE |
| LEOPARD syndrome | BRAF |
| Leucocytospermia | FN1, LEP, MMP12, TNF |
| Leukemia | CCR7, CCR8, TET1, TET2, TET3, KIR3DS1, MTHFR, CCL11, CCL27, CCR9, CSF2 |
| Leukemia, Myelogenous, Chronic, BCR-ABL Positive | CSF2 |
| Leukocyte adhesion deficiency | ITGB2 |
| Leukocytospermia | COX2, IL12, IL2, IL4, CXCL8, SLPI, SOD1, TLR2, TLR4, TNF |
| Leukodystrophy | HSPD1 |
| Leukoencephalopathy | CSF1R, JAG1 |
| Leukomalacia | IL6 |
| Leydig cell dysfunction | FSHB |
| Leydig cell hyperplasia | TGFB1 |
| Leydig cell hypoplasia | LHCGR |
| Li-Fraumeni syndrome | TP53 |
| Limb deficiency defects | GSTM1, GSTT1, LTA, NAT2, NOS3, SELE, SERPINE1 |
| Limb-mammary syndrome | TP63 |
| Lipodystrophy | PPARG |
| Lipolysis | AHSG, USF1 |
| Liver disease | PEMT, AGTR1, CFTR, CYP17A1, CYP2A6, CYP2C19, HLA-DRB1, IFNG, IL18, MTHFR, PON1, TGFB1, TNF |
| Loeys-Dietz syndrome | SMAD3, TGFB2 |
| Lower implantation | IL11, IL6 |
| LPA deficiency | LPA |
| Lumbar spondylosis | IL1B, VDR |
| Lung cancer | MBD2, MIR196A2, SRA1, TFF3, RERG, CD40, CYP24A1, AHRR, PIK3CA, FHIT, OGG1, CYP2A6, FASLG, CSF2, PON1, PPARG |
| Lung disease | ACE, AGER, CFTR, IL10, IL13, LTA, TNF |
| Lupus | TNF |
| Lupus erythematosus | HLA-DRA, KIR3DS1, KLRK1, CCR7, LILRB1, CD44, CDKN1A, PPARG |
| Lupus nephritis | IL18, SERPINE1 |
| Luteal phase defects (LPD) | SERPINA6, ER, INHB, LHB, LHCGR, PEP, PGR, PRL, SHBG |
| Lymphangioma | FLT4 |
| Lymphedema | ANGPT2, FLT4, KDR, NRP2, VEGFC |
| Lymphocytosis | IFNG, IL10, IL1A |
| Lymphohistiocytosis | TNF |
| Lymphoma | KIR3DS1, CD40, SRD5A1, MBD2, NPY, OGG1, ABCG2, BCL6, IL9 |
| Lymphopenia | ADA |
| Lymphoproliferative disorders | ITGB3 |
| Machado-Joseph disease | AR |
| Macroangiopathy | CETP |
| Macrosomia | WT1 |
| Macrothrombocytopenia | CD36, ITGB3 |
| Macular degeneration | NPY, ACE, AHR, APOE, C3, C5, CAT, CCL2, CRP, CYP1A1, CYP1A2, FGA, GPX1, HLA-A, HLA-B, HLA-DRB1, IL1A, ITGB2, KDR, MMP9, MTHFR, NAT2, PON1, SCARB1, SELE, SERPINF1, VEGFA, HTRA1, TLR4 |
| Macular dystrophy | CTNNA1, PROM1 |
| Maculopathy | LAMC1, LAMC2 |
| Major depressive disorder | FHIT, AKT1, APOE, CLOCK, COMT, SLC6A4 |
| Maldescended testes | LHCGR |
| Male factor infertility | BIRC5 |
| Male gamete function | HLA-DQA1 |
| Male gonadal dysfunction | INHB |
| Male hypogonadism | FSHB, LHCGR |
| Male immune infertility | ICAM1 |
| Male infertility | A2M, ACTB, ADM, AHR, AHRR, AKR1C3, AMHR2, APOE, AR, AXL, BCL2, BDNF, BIRC5, BRCA1, C3, CA125, CASP1, CASP3, CAT, CCNB1, CCR5, CD56, CFTR, CLOCK, CSF1, CTSD, CYP17A1, CYP19A1, CYP1A1, CYP1B1, DNMT3B, EGF, EGFR, eNOS, ESR1, ESR2, FAS, FASLG, FGFR1, FLT1, FN1, FSHB, GAS6, GPX1, GR, KLK3, GSTM1, GSTP1, GSTT1, H19, H2AFX, HCG, HLA-A, HLA-B, HLA-DR, HO-1, HSP60, HSPA4, IFNG, IGF1, IGF2, IL1, IL10, IL12, IL18, IL1B, IL1RN, IL2, IL23A, IL2RA, IL4, IL5, IL6, IL6R, CXCL8, INHB, ITGA4, KDR, KIT, KITLG, LEP, LEPR, LHB, LHCGR, LPO, MIR145, MIS, MLH1, MTHFR, MYC, NAT2, NGF, NOS2, NOS3, NR5A1, p53, PAEP, PGR, PI3K, PLA2, PON1, PPARG, PRL, PRLR, SAA1, SHBG, SOD1, SRC, TEP1, TERT, TF, TGFB1, TNF, TNFRSF1A, TNFRSF1B, TNFSF10, TP53, TRAIL, TYK2, VDR, VEGFA, VIM, WT1, XRCC1, FSHR |
| Male pattern baldness | AR |
| Male pseudohermaphroditism (MPH) | AKR1C3, AR, CYP17A1, FSHB, HSD17B1, HSD17B2, HSD17B3, HSD3B2, LHB, LHCGR, MIF, SRD5A2 |
| Malfunction of follicular development | AMHR2 |
| Malfunction of oocytes | LHCGR |
| Malignant melanoma | BRAF, CDKN2A, NRAS, PTEN |
| Malignant pleural mesothelioma | CDKN2A, IGF1, IGF1R, PDGFA, TP53 |
| Mandibulofacial dysostosis with alopecia | EDNRA |
| Mantle cell lymphoma | CCND1, CDKN2A, TP53 |
| Mast cell disease | KIT |
| Mast cell leukemia | KIT |
| Mastocytosis | TET2, IL13, KIT |
| Maturation arrest (MA) | FSHB, LHB, MLH1, NOS2, PMS2, PR, TERT |
| Maturation of spermatozoa | A2M |
| Maturity onset diabetes of the young (MODY) | INS |
| Maturity-onset diabetes of the young, type VII | KLF11 |
| Mayer-Rokitansky-Kuster-Hauser syndrome | AMH, FSHR, INHB, LHB, WNT4 |
| Meacham syndrome | WT1 |
| Medullary cystic kidney disease 1 | MUC1 |
| Medullary thyroid cancer | KRAS |
| Medulloblastoma | CTNNB1, MYC, TERT, TP53 |
| Meester-Loeys syndrome | BGN |
| Megalencephaly-capillary malformation syndrome | PIK3CA |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | PIK3CA |
| Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic | PIK3CA |
| Melanocytic nevus syndrome | NRAS |
| Melanoma | BRAF, ICAM1, XRCC3, TP53 |
| Memory disorders | APOE, COMT |
| Meniere disease | HLA-DRB1, PTPN22 |
| Meningeal cancer | CCR7, CCL11, CCR8 |
| Meningeal Neoplasms | CCL11, CCR9 |
| Meningioma | AKT1, CDKN2A, PTEN |
| Meningomyelocele | BRCA1 |
| Menstrual disorders | LHB |
| Mental development | CYP1A1, CYP1A2, CYP1B1, GSTM1 |
| Mental disorders | APOE, COL4A2, TLR4 |
| Mental retardation | COMT, DPP6, FOXP1, MTHFR, SYP, TP53, ADA |
| Mental retardation, autosomal dominant 48 | RAC1 |
| Merkel cell carcinoma | TP53 |
| Mesangial sclerosis | WT1 |
| Mesomelic dysplasia, Kantaputra type | MDK |
| Mesothelioma | OGG1, WT1 |
| Metabolic syndrome | CCL11, ADIPOR1, ADIPOR2, NPY, ADIPOQ, AGTR1, AHSG, ANXA5, APOE, CETP, CLOCK, CPB2, CTSG, EDN1, ESR1, ESR2, F3, GHRL, GPX1, HMOX1, IGFBP1, IL10, IL18, IL6R, ITGB2, LEP, LEPR, LIMK1, LTA, MMP1, MMP12, MMP3, MTHFR, NOS3, NR3C1, PON1, PPARA, PTGS1, PTGS2, RETN, SERPINE1, TNF, ADA, PPARG |
| Metabolism disorders | COL5A2, CYP2C19, IL1R1, IL6, ITGB3, SELE, TGFB1, THBS1 |
| Metachromatic leukodystrophy due to SAP-b deficiency | PSAP |
| Metaphyseal dysplasias | MMP13, MMP9 |
| Microalbuminuria | IGF1 |
| Micropenis | AHRR, AHR, AR, NR5A1, SRD5A2 |
| Migraine disorders | CCL11, ACE, AGTR1, APOE, AR, COMT, CYP19A1, EDN1, ESR1, ESR2, FSHR, GC, ICAM1, IL10, IL13, IL1A, IL1B, IL6, ITGA2, ITGB3, MMP3, MTHFR, NOS2, NOS3, TNF, TNFRSF21, CSF2, IL9 |
| Minimal or mild endometriosis | ESR1 |
| Miscarriage | AMH, CD25, FOXP3, GSTM1, GSTP1, GSTT1, ITGB3, PGR, PPARG |
| Mitochondrial DNA depletion syndrome | TYMP |
| Mitochondrial neurogastrointestinal encephalomyopathy | TYMP |
| Mixed gonadal dysgenesis | AR |
| Monorchidism | AMH, FSHB |
| Mood disorders | ACE, APOE, BDNF, COMT, DPP6, DRD2, ESR1, IFNG, IL1B, IL6, NR3C1, SLC6A4 |
| Mucinous ovarian tumor | KRAS |
| Mucocutaneous Lymph Node Syndrome | CD40, CCR5, IL10, IL18, MMP3, TNF |
| Mucopolysaccharidosis | NAGLU |
| Muir-Torre syndrome | MLH1, MSH2 |
| Mullerian agenesis | AMHR2 |
| Mullerian anomaly | FLT1, KDR, WNT4 |
| Mullerian aplasia and hyperandrogenism | WNT4 |
| Mullerian duct differentiation | BMP4 |
| Multiple endocrine neoplasia syndrome | CDKN1B |
| Multiple implantation failure | LIF, TNF |
| Multiple myeloma | MAF, IL9, PON1, CCND1, KRAS, MYC, NRAS, TP53 |
| Multiple Sclerosis | CD83, CD1a, OGG1, CYP24A1, KIR3DS1, CD40, CCL11, HLA-DRA, A2M, AIF1, APOA1, APOE, BAX, BCL2, BCL2L1, BDNF, CCL2, CCL22, CCL5, CCL7, CCR1, CCR5, CNTF, CRYAB, CXCL10, CXCR4, EHMT2, ERBB3, ESR1, FAS, FASLG, FCRL3, FGF1, GC, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DRB1, HLA-G, HSPB1, HSPD1, ICAM1, IDO1, IFNG, IL10, IL12, IL17A, IL1B, IL1RN, IL2, IL2RA, IL4, IL5, IL6, JAG1, JAK1, KIR2DL1, KIR2DS4, KIR3DL1, L1CAM, LEP, LIF, LTA, MAPK1, MET, MICA, MICB, MMP1, MMP12, MMP2, MMP3, MMP7, MMP9, MPO, MTHFR, NGF, NOD2, NOS2, NOS3, NOTCH4, NR3C1, PON1, POU5F1, PPARA, PTGER4, PTGS2, PTK2, PTPN22, SELE, SPP1, STAT3, STMN1, TGFB1, TLR4, TLR9, TNF, TNFRSF1A, TNFRSF1B, TNFSF10, TP53, VCAM1, VDR, IL9, PPARG |
| Multiple system atrophy | EIF4EBP1, ICAM1, UCHL1 |
| Muscle glycogen storage disease | PGM1 |
| Muscle hypertrophy | GDF8 |
| Myasthenia gravis | HLA-DRA, ACE, CCR5, HLA-A, HLA-B, HLA-DQA1, HLA-DRB1, IFNG, IL10, IL12, IL1A, IL6, PTPN22, TNF |
| Mycosis fungoides | CDKN2A, FAS, MYC, PTEN, TP53 |
| Myelodysplastic syndrome | JAK2, TET2, CSF1R, GSTM1, GSTT1, DNMT3A, GATA2, NRAS, TP53 |
| Myelodysplastic syndromes | TET2 |
| Myelofibrosis | JAK2 |
| Myeloid disorders | TP53 |
| Myeloma | CD40 |
| Myelopathy | MMP9, TNF, TNFRSF1A, TNFRSF1B |
| Myeloproliferative disorders | TET2 |
| Myhre syndrome | SMAD4 |
| Müllerian duct differentiation | GREM1, BMP4 |
| Myocardial dysfunction | CASP1 |
| Myocardial infarct | CCL11 |
| Myocardial infarction | PON1, A2M, ABCG2, ACE, AHR, ANXA5, APEX1, CDKN1B, CPB2, CRP, CYP1A2, ENO1, ESR1, IL10, KIR2DL1, HP, HPSE, IL1A, IL1B, ITGA2, ITGA3, ITGB1, ITGB3, PTGER2, MIF, TNF, LTA, SLC6A4, TERT, TF, THBS1, TLR4, TLR9, TNFRSF1A, TNFRSF1B, VCAM1, VDR |
| Myofibrillar myopathies | CRYAB |
| Myopathy | CRYAB, HLA-DRB1, TPM3, WNT4 |
| Myopia | DCN, BDNF, EGR1, FGF2, MET, MMP3, SOX2, TGFB1, TIMP1, HGF |
| Myositis | HLA-A, HLA-B, HLA-DQA1, HLA-DRB1, PTPN22 |
| Myotonic dystrophy | AR |
| Narcolepsy | SRA1 |
| Nasal polyposis | CFTR, GATA2, HLA-DQA1, HLA-DRB1, IL1RL1, IL33, IL5, TNF |
| Nasopharyngeal cancer | PIK3CA, BCL2, CADM1, CDH1, CDKN2A, MST1R |
| Nausea | SLC6A4 |
| Nelson's syndrome | NR3C1 |
| Nemaline myopathy | TPM3 |
| Neoplasm | IL15 |
| Neoplasms | OGG1 |
| Neovascularization | FLT1 |
| Nephritis | SLC6A4 |
| Nephrolithiasis | FN1, PLAU, SPP1, VDR |
| Nephropathy | CALD1, ACE, ADIPOQ, AGTR1, AKR1B1, APEX1, APOE, CCL2, CCL5, CCR5, CETP, CMA1, GHRL, HP, IFNG, IL10, IL1B, IL1R1, IL1RN, IL4, IL6, ITGA2, ITGB3, LTF, MMP9, NOS3, PON1, SELE, SERPINE1, TGFB1, TNF, VEGFA |
| Nephropathy in other diseases | PON1 |
| Nephrosis | HLA-B |
| Nephrotic syndrome | FCER1G, GSTM1, GSTP1, GSTT1, HLA-DRB1, IL13, IL4, IL6, MIF, NR3C1, STAT6, WT1 |
| Neural tube defects | APEX1, BMP4, CFL1, CYP26A1, FOLR1, MTHFR, NOS3, PDGFRA, XRCC1, XRCC3 |
| Neuroblastoma | KIR3DS1, NME1, NTRK2 |
| Neurofibromatosis 1 | SPRY2 |
| Neuromuscular diseases | AR |
| Neuronal ceroid lipofuscinosis | CTSD |
| Neuropathy | AKR1B1, BCHE, FAS, GSTM1, GSTT1, HLA-A, HLA-B, HLA-DRB1, HSPB1, NGF, NOS3, TP53 |
| Neuroticism | BDNF, COMT, SLC6A4 |
| Neutropenia | ABCG2, GSTM1, GSTP1, GSTT1, MTHFR, TNF |
| Nevo syndrome | PLOD1 |
| Nevus, epidermal | PIK3CA |
| Non-allergic nasal polyposis | GSTM1, GSTP1, GSTT1 |
| Non-Hodgkin lymphoma | OGG1 |
| non-Hodgkin's lymphoma | PON1 |
| Non-normozoospermia | INHA |
| Non-obstructive azoospermia (NOA) | AMH, AR, BCL2, CFTR, CYP1A1, DNMT1, EGFR, FSHB, FSHR, HLA-DRB1, HSFY1-1, INHB, MIR122, MIR141, MIR34C, MIR491, MTHFR, NOS3, NR3C1, PGDS, SCF, USF1, WT1 |
| Non-small cell lung cancer | FHIT, BRAF, CDKN2A, EGFR, KRAS, TP53 |
| Non-small cell lung carcinoma | TWIST1 |
| Non-symdromic cleft lip | MTHFR |
| Non-syndromic deafness | GJA1 |
| Nonsmall cell lung cancer | PIK3CA |
| Nonsyndromic cryptorchidism | ESR1 |
| Noonan syndrome | AMH, AMHR2, AR, BRAF, KRAS, NRAS |
| Normogonadotropic anovulatory infertility | FSHR |
| No ovarian factor (NOF) | AGTR1 |
| Obesity | ACE, ADAM17, ADIPOQ, AHSG, AKR1C2, APOA2, APOE, AR, BDNF, CD36, CETP, CNTF, COMT, CRH, CRHR1, CRHR2, CRP, CYP19A1, DRD2, EDN1, ESR1, ESR2, FAS, FGA, GHRL, GSTM1, GSTP1, GSTT1, HLA-C, HMOX1, HP, IGF2, IL10, IL1B, IL6, IL6R, IL6ST, IRS2, ITGB2, ITGB3, LEP, LEPR, LPA, LTA, MIF, MTHFR, NOS3, NR0B2, NR3C1, NRP2, NTRK2, OLFM4, OPRM1, PGR, PON1, PPARA, PRL, RETN, SCARB1, SERPINA6, SERPINE1, SLC6A4, SOCS3, STAT3, TGFB1, TNF, TNFRSF1A, TNFRSF1B, UCN, VDR, PPARG, SMAD2 |
| Obsessive compulsive disorder | BDNF, COMT, SLC6A4 |
| Obstructive sleep apnea syndrome | ACE, SERPINE1 |
| Oculodentodigital dysplasia | GJA1 |
| Odontogenesis | HMGA2 |
| Oligoamenorrhea | LHCGR |
| Oligoasthenospermia | ACE, LTA |
| Oligoasthenoteratospermia | BRCA1, BRCA2, XDH |
| Oligoasthenoteratozoospermia | ACE, AR, CFTR, COX1, ESR1, ESR2, FSHB, FSHR, GSTM1, GSTP1, HMOX1, IGF2, LHB, MTHFR, NOS2, PLAU, PRL, SERPINE1, SOD1, TNF |
| Oligoasthenozoospermia | AZGP1, BDNF, BIRC5, CASP3, GSTM1, MTHFR, NGF, PGR, PLAU, PLAUR, PSA |
| Oligoasthenozoospermia with varicocele | FAS |
| Oligoazoospermia | INHB |
| Oligohydramnios | PTGS2 |
| Oligomenorrhea | AMH, LHB, PRLR, TSH, NR5A1 |
| Oligospermia | DNMT1 |
| Oligoteratoasthenoazoospermia | IL10 |
| Oligoteratozoospermia | XDH, FSHB |
| Oligozoospermia | ACE, ADM, AHR, AR, AZGP1, BRCA2, CASP3, CDH1, CFTR, COMT, CYP17, CYP19A1, CYP1A1, CYP1B1, ESR1, ESR2, FSHB, FSHR, GPX1, GSTM1, GSTT1, H19, HSD17B2, HSF1, HSP90, HSPA4, IGF2, IL1B, IL6, CXCL8, INHB, KIT, KITLG, KLK3, LEP, LEPR, LF, LHB, PTGDS, MIR21, MIR22, MLH1, MTHFR, NR5A1, OXTR, PAEP, PGDS, PMS2, PGR, PRL, PROKR2, SCA1, SHBG, SRD5A2, TF, TGFB1, TNF, TP2, TP53, VEGFA, XDH |
| Omenn syndrome | IFNG, IL10, IL1RN, TNF |
| Onchocerciasis | IL13 |
| Oocyte competency | HO-1, NOS, BCL2, NOS2 |
| Oocyte development | PTX3, IL1A, TNF-alpha |
| Oocyte maturation | IL1A, TNF-alpha, BDNF, EGF, GDF9, IGF1, IGFBP1, MTHFR, PAPPA, VEGFA, KDR, APOE |
| Oocyte maturity and fertilization | ANG, FGF1 |
| Oocyte maturity and follicular steroidogenesis | ITGA6 |
| Oocyte quality | GSTT1, NOS3 |
| Oocyte retrieval | INHB |
| Ophthalmia | TNF |
| Optic nerve diseases | GSTM1, GSTT1 |
| Optic nerve hypoplasia | SOX2 |
| Oral cancer | OGG1, TNF, CCND1, CDKN2A, EGFR, KRAS, MYC, STAT3, TP53 |
| Oral clefts | NECTIN1 |
| Oropharyngeal cancer | EGFR |
| Osteoarthritis | KIR3DS1, AR, CD36, ESR1, ESR2, GSTM1, GSTP1, GSTT1, HLA-DQA1, IGF1, IGFBP7, IL10, IL12A, IL1A, IL1B, IL1R1, IL1RN, IL6, KIR2DL1, KIR2DS4, KIR3DL1, LTA, MMP1, MMP2, MMP9, PLA2G4A, PTGS2, TNF, TNFRSF11B, TNFRSF1A, TNFRSF1B, TP53, VDR |
| Osteofibrous dysplasia | MET |
| Osteogenesis imperfecta | SERPINF1 |
| Osteoglophonic dysplasia | FGFR1 |
| Osteolysis | IFNG, IL1A, IL1B, IL1R1, IL1RN, IL2, IL6, TNF |
| Osteomalacia | VDR |
| Osteomyelitis | BAX, IL1A, IL4, IL6, NOS3 |
| Osteonecrosis | ANXA2, APOA1, HIF1A, MTHFR, NOS3, PON1, SERPINE1, VDR |
| Osteoporosis | ACP1, AHSG, AR, CA2, CFTR, CYP17A1, CYP19A1, CYP1A1, CYP1B1, ESR1, ESR2, FLT3, GC, GHRH, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DRB1, IGF1, IL10, IL1RN, IL6, KIFAP3, LTA, MTHFR, NOS3, NR3C1, NR5A2, PGR, PLAU, PLOD1, SERPINE1, SPARC, TGFB2, TLR4, TNF, TNFRSF11B, TNFRSF1B, VDR, PPARG, TGFB1, WNT1 |
| Osteosarcoma | CDKN2A, MYC, RB1, TP53 |
| Oteosclerosis | ACE, AGTR1 |
| Otitis media | MUC2, TLR2, TLR4, TNF |
| Ovarian cancer | CCL11, DCN, LAMC1, OGG1, SRA1, SRD5A1, PIK3CA, XRCC3, XRCC1, TP53, MIR17, TWIST1, VEGFC, BRCA2, ERBB2, KRAS, MLH1, MSH2, MYC, 09-Sep, PON1, IFNG, HNF1B, CXCR3, BLMH |
| Ovarian dysfunction | PGR, AMH, ESR1, FOXL2, PR-A, SHBG, TNF |
| Ovarian dysgenesis | FSHR |
| Ovarian endometrioid cysts | VIM |
| Ovarian endometriomas | MUC16 |
| Ovarian endometriosis | GAS6, GSTZ1, MIR483, MIR629, VIM, VEGFA, UCN, TYMP, TRIM36, TDGF1, SRD5A2, SRC, SPRY2, SPOCK2, SNCG, SLCO4A1, SHBG, SERPINA6, RUNX3, RASSF2, RARRES2, RARRES1, PTK2, PTGS2, PTGER3, PSMD10, PRKCB, PLA2G2A, PGR, PGDS, PDGFRA, PAEP, OPRM1, NTN4, NR5A1, NR2F2, ADAM22, AKR1C1, AKR1C2, AKR1C3, AKR1D1, AXL, BCL2, CD10, CDH1, CLOCK, COL4A2, COL5A2, COX2, CTNNA3, CTNNB1, CYP1A1, CYP1B1, CYP2A, ESR2, FAK, FCER1G, FLRG, FST, GRO1, CXCL8, INHB, JAK1, MCP1, MYC, NDUFS1, NGF, PR-AB, TNF, VEGF, BIRC5, CD44, CTNNA1, CYP2A6, ESR1, GPER1, CXCL1, CXCL2, HLA-DRB1, HLA-G, HSD17B2, HSP90AA1, IGFBP1, IL6, IL10, INHA, INHBA, LEP, MLH1, MME, MMP2, MMP3, CCL2, TIMP2, TP53, CXCR4, FSTL3, GBGT1, GATA5, C3, NANOG, PTX3, SOX2, MUC16, MSTN, MIR20A, IL8, ID2 |
| Ovarian failure | GALT |
| Ovarian follicle development | PGRMC1 |
| Ovarian function | CA125, GDF-9 |
| Ovarian hyperandrogenism | AR |
| Ovarian hyperstimulation syndrome (OHSS) | DRD2, AMH, AMHR2, ANGPT1, C3, CA125, CCL2, CFTR, CP, CRP, CYP11A1, CYP19A1, EDN1, FSHR, IL1, IL1B, IL2, IL23A, IL2RA, IL6, CXCL8, LHCGR, PAPPA, SELE, TNF, VCAM1, VEGFR1 |
| Ovarian hyperstimulation syndrome(OHSS) | ICAM1, IL10, IL12, IL18, INHA, INHB, KDR, LEP, LHCGR, LPA, MPO, MTHFR, PGM1, VEGFA |
| Ovarian reserve | BRCA1, INHB |
| Ovarian responsiveness | MTHFR |
| Ovarian endometriosis | SOX2, PTX3, NANOG, LEP, C3 |
| Ovulatory dysfunction | EGR1, ESR1, ESR2, LHB |
| Ovulatory dysfunction in endometriosis | TNF, EGR1 |
| Paget's disease | PRL, TNFRSF11B |
| Palmoplantar keratoderma | AQP5 |
| Palmoplantar pustulosis | LTA, TNF |
| Panbonchiolitis | HLA-A, HLA-B |
| Pancreatic cancer | PIK3CA, OGG1, BRCA2, CDKN2A, ERBB2, KRAS, SMAD4, TP53 |
| Pancreatic carcinoma | SMAD2 |
| Pancreatitis | CAT, CCL2, CFTR, GSTM1, GSTP1, GSTT1, HLA-A, HLA-B, HLA-C, HLA-DRB1, ICAM1, IFNG, IL10, IL1A, IL1B, IL1RN, IL6, MIF, SERPINE1, SPINK1, TGFB1, TLR4, TNF, VEGFA, PON1, CTSB |
| Panencephalitis | IFNG, IL10, IL4 |
| Panic disorder | BDNF, COMT, CRHR1, CRHR2, DRD2, PGR, SLC6A4, TNFRSF21 |
| Papillorenal syndrome | PAX2 |
| Paralysis | APOE |
| Parkinson's disease | HLA-DRA, OGG1, A2M, ACE, AKT1, APOE, BAX, BDNF, COMT, CP, CSF1R, CTSD, CYP17A1, CYP19A1, CYP1A1, CYP1A2, CYP1B1, DRD2, ESR1, ESR2, FCER2, FYN, GATA2, GSK3B, GSTM1, GSTP1, GSTT1, GSTZ1, HMOX1, IFNG, IL10, IL1A, IL1B, IL2, IL2RB, IL4, IL6, ITGB2, MTHFR, NAT2, NFKB1, NOD2, NOS3, PAK1, PARK7, PON1, PTGS2, PTPRR, SLC6A4, SNCG, TGFB2, TLR4, TNF, TNFRSF1A, UCHL1, VDR, YWHAH, PAK4 |
| Partial androgen insensitivity syndrome (PAIS) | FSHB, LHB, NR5A1 |
| Pelvic adhesions | IL1, TNF |
| Pelvic endometriosis | CCL11 , STX5, SAA1, MUC16, CA125, CCL11, CNTF, CXCL10, IL10, IL11, IL2, ITGA3, KIR2DL1, ACLY, CRP, CYP2B6, CYP19A1, HSD17B2, ICAM1, IL4, IL6, KIR3DL1, LEP, MET, MMP2, CCL2, ADIPOQ, LAMA1 |
| Pelvic inflammatory disease (PID) | HLA-DQA1, TLR4, TLR2 |
| Pelvic pain | CAB39L, UCHL1 |
| Pemphigus | KIR3DS1, CD40, BAX, HLA-A, HLA-C, HLA-DQA1, HLA-DRB1, TGFB1, TNF, TP53, IFNG, IL10, IL12, IL1A, IL1B, IL1R1, IL1RN, IL2, IL4, IL6 |
| Penile cancer | CDH1, CDKN2A, MMP9, MYC, PTGES2, PTGS2, TP53 |
| Penoscrotal hypospadias | AR, CYP11A1, NR5A1 |
| Perianal disease | TNF |
| Periodic syndrome | TNFRSF1A |
| Periodontal disease | IL6, IL10, IL1A, MPO, NOS3, TNF |
| Periodontitis | ACE, AGTR1, CCL5, CCR5, CSF1, CTSD, CYP2C19, EDN1, EGF, FASLG, FPR1, HLA-A, HLA-B, HLA-C, HLA-DRB1, ICAM1, IFNG, IL10, IL16, IL18, IL1A, IL1B, IL1R1, IL1R2, IL1RN, IL2, IL4, IL6, IL6R, IL6ST, LTA, MMP1, MMP2, MMP3, MMP9, NAT2, NOD2, PIK3R1, PTGDS, SERPINE1, SPP1, TGFB1, TIMP2, TLR2, TLR4, TNFRSF11B, TNFRSF1B, VDR, ESR1 |
| Peripheral nervous system diseases | GSTM1, GSTP1, GSTT1 |
| Peripheral T cell lymphoma | TET2 |
| Peripheral vascular diseases | SRD5A1, PPARG |
| Peritoneal carcinoma | BRCA1 |
| Peritoneal endometriosis | VCAN, TRPV1, TIMP1, TGFB2, PRL, NGF, NFKB1, MUC16, HMOX1, HMOX2, CDKN1B, HOXA-10, CHI3L1, HLA-G, HOXA10, IGFBP1, MME, MMP2, MMP3, PGR, TIMP2 |
| Peritoneal endometriotic tissues | TIMP2 |
| Peritoneal, ovarian and bowel endometriotic tissues | TIMP2, MMP3, MMP2 |
| Peritoneal, ovarian, and deeply infiltrating endometriosis | PGR, MME, IGFBP1 |
| Peritoneal, rectovaginal and ovarian endometriosis | MMP2 |
| Permanent neonatal diabetes mellitus | INS |
| Persistent mullerian duct syndrome | MIS, AMHR2, AMH |
| Persistent truncus arteriosus | GATA6 |
| Personality disorders | BDNF, DRD2, SLC6A4, CRHR2 |
| Pfeiffer syndrome | FGFR1, NR5A1 |
| Phallic hypoplasia | NR5A1 |
| Phospholipase A2 deficiency | PLA2G4A |
| Pilomatricoma | CTNNB1 |
| Pituitary adenoma | CDKN1B |
| Pituitary adenomas | PIK3CA |
| Pituitary dwarfism | GHRH, IGF1 |
| Pityriasis rosea | HLA-A, HLA-C |
| Placenta diseases | MTHFR |
| Placental abruption | NOS3 |
| Plasma fibronectin deficiency | FN1 |
| Platelet aggregation | ITGA2, ITGB3, MAP2, NOS3, PTGS2, TGFB2 |
| Platelet glycoprotein IV deficiency | CD36 |
| Pleuropulmonary blastoma | DICER1 |
| Polyangiitis | HLA-DRB1, KIR3DL1 |
| Polyarthritis | MIF |
| Polycystic kidney disease | AGTR1, EDN1, EGFR, NOS3, TGFB1 |
| Polycystic ovaries (PCO) | CYP1A1, GSTM1, GSTT1, IL1, TGFA, TNF |
| Polycystic ovary syndrome | SRD5A1 |
| Polycystic ovary syndrome (PCOS) | VEGFA, TNF, MUC1, A1BG, ACE, ACTB, ADIPOQ, ADM, AGTR1, AKR1C1, AKR1C3, AKT1, AMH, AMHR2, ANGPT1, APOE, AQP8, ASP, AT1, BCL2, BDNF, CAPN5, CCL2, CCL3, CCND1, CD36, CD40L, CD44, CHI3L1, COMT, CRP, CSF1, CTSD, CXCL1, CXCL2, CYP11A1, CYP17, CYP17A1, CYP19A1, CYP1A1, CYP1B1, Cyr61, DKK1, DRD2, EDN1, EGF, EGFR, ERBB2, ERBB3, ESR1, F3, FAS, FASL, FKBP4, FOS, FOXO1, FSHB, FSHR, FST, GATA6, GDF15, GDF9, GHRL, GREB1, GSK3B, HGF, HLA-A, HLA-B, HLA-DQA1, HLA-DR, HLAG, HMGA2, HMOX1, HSD17B2, HSPA4, HSPB1, ICAM1, IGF1, IGF1R, IGF2, IGFBP1, IGFBP2, IGFBP3, IL10, IL11, IL12, IL13, IL17A, IL18, IL1A, IL1B, IL1R1, IL1RA, IL1RN, IL2, IL6, IL6R, CXCL8, INHA, INHBA, IRS2, ITGB3, KHDRBS3, Ki67, KRAS, LATS1, LEP, LEPR, LGALS3, LHB, LHCGR, LIF, LPA, LTA, MAP3K7, MCP1, MIF, MIR133A1, MIR135A1, MIR21, MIR223, MIR34C, MIR483, MIR9-1, MIR93, MIRLET7I, MMP1, MMP2, MMP9, MPO, MST1, MTHFR, NFKB1, NOS2, NOS3, NPPB, NR3C1, NUCB2, OATP4A1, OPG, OPN, p27, p53, PAEP, PAFAH1B2, PAI1, PAPPA, PEDF, PGR, PGRMC1, p-H3, PI-3K, PIK3R1, PPARA, PPARG, P |
| Polycystic ovary syndrome (PCOS), Poor ovarian reserve (POR), Endometriosis | AGTR1 |
| Polycystic ovary syndrome (PCOS) | LHB |
| Polycythemia vera | JAK2, TET2 |
| Polydipsia | ACE, CYP1A2 |
| Polyendocrinopathies | HLA-DRB1, MICA |
| Polymicrogyria | COL18A1 |
| Polymyalgia rheumatica | CCR5, CRH, ICAM1 |
| Polymylagia rheumatica | IL1RN |
| Polymyositis | MICA, HLA-DRB1, TNF |
| Polyneuropathies | HLA-DRB1 |
| Polyposis | SMAD4 |
| Polyzoospermia | SOD1, TF |
| Poor ovarian response | PAPPA, FSHR, CYP19A1 |
| Poor ovarian response (POR) | INHB, AMH, AGTR1, AR, CXCL8 |
| Poor ovarian response(POR) | MIF |
| Poor sperm motility | PRL |
| Poor ovarian reserve (POR) | AT2R |
| Poor ovarian response (POR) | COX2 |
| Porencephaly | COL4A2 |
| Porencephaly 1 | COL4A4 |
| Porphyria | CYP1A2 |
| Prader-Willi syndrome | AR |
| Precocious puberty | SERPINE1, ESR1, LHCGR, KISS1R |
| Precursor Cell Lymphoblastic Leukemia-Lymphoma | CD40, OGG1 |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | PIK3CA |
| Preeclampsia | ABCG2, ACE, ADIPOQ, AGTR1, AMH, ANXA5, AP1, APEX1, APOE, CAT, CD40, CD40L, CETP, CFTR, CPB2, CRP, CYP1A1, EDN1, EDNRA, EGF, ENG, ESR1, ESR2, FAS, FASL, FLT1, FOXP3, GSTM1, GSTP1, GSTT1, H19, HIF1A, HLA-DQA1, HLA-DRB1, HLA-G, HO-1, HO-2, HP, HSP60, HSPA4, IFNG, IGF1, IL10, IL12, IL18, IL1A, IL4, IL6, INHA, ITGA2, ITGB3, LEP, LEPR, MMP1, MMP3, MMP9, MPO, MTHFR, NAT2, NOS3, PAPPA, PON1, SELE, SERPINE1, SOD1, TGFB1, TNF, VEGFA, VEGFR1, WNT4, WNT5A, VEGFC |
| Pregnancy loss | KIR3DS1, ADM, AMH, IDO, COX2, CPB2, FLT1, H19, IGF2, IL2RA, TLR4, TNFRSF1A |
| Premature adenarche | TNF |
| Premature adrenarche | IL6 |
| Premature birth | CYP1A1, GSTM1, GSTT1, ICAM1, IL10, IL1B, IL2, IL4, IL6, IL6R, NOD2, TGFB1 |
| Premature menopause | BRCA1, VDR |
| Premature ovarian failure ( POF) | ADIPOQ, AMH, AR, CDKN1B, COLIA1, CXCL12, CYP11A1, CYP19A1, CYP2B6, CYP2C19, ENO1, ESR1, FLRG, FOXL2, FSHB, FSHR, FST, GDF9, GSTM1, GSTT1, HK3, INHA, INHB, KDR, KIT, LEP, LHB, LHCGR, MIR196A2, MIR22, MTHFR, NAT2, NR5A1, p27, PGRMC1, POU5F1, PTEN, SBP1, SCARB1, SHBG, TERT, TNF, WNT4, WT1 |
| Premature ovarian failure(POF) | TSHA, MIR22, HLA-DQA1, HLA-DRB1, IGF1, PAFAH1B2 |
| Premature ovarian insufficiency (POI) | COMT |
| Premature ovarian failure (POF) | ACTN4 |
| Premenstrual dysphoric disorder | COMT, ESR1, ESR2, SLC6A4 |
| Presbycusis | GJA1 |
| Preterm delivery | CYP1A1, FAS, GSTM1, GSTT1, HSPA4, IFNG, IL1A, IL6, IL6R, LTA, MMP9, NAT2, NOS3, PGR, PON1, SERPINB2, TGFB1, TLR2, TLR4, TNF, TNFRSF1A, TNFRSF1B, VEGFA |
| Priapism | ITGAV, NOS3 |
| Primary amenorrhea | AR, CYP17, FOXL2, FSHB, FSHR, HSD17B3, NR5A1, WNT4, LHCGR |
| Primary biliary cirrhosis | FAS, HLA-DQA1, IGF1, IL1RN, IL6, PTPN22, TLR9, TNF, VDR |
| Primary bone lymphomas | BCL6 |
| Primary ciliary dyskinesia | HSD3B2 |
| Primary gynecologic malignancies | MSH2 |
| Primary hyperparathyroidism | CDKN1B |
| Primary hypertrophic osteoarthropathy | SLCO2A1 |
| Primary infertility | TNF, LEP |
| Primary open angle glaucoma | CYP1B1, NTF4 |
| Primary or secondary amenorrhea | PRL |
| Primary ovarian insufficiency (POI) | ACE, AMH, AMHR2, AT1R, CRP, DICER1, FOXL2, FSHB, GDF9, HLA-DRB1, INHA, INHB, NR5A1, NR5A2, PAI1, PTEN, SAA, TGFB1, TNF, HLA-A, HLA-B |
| Primary sclerosing cholangitis | HLA-B, MMP3 |
| Primary seminiferous tubule failure | GJA1 |
| Primary spermatogenetic failure | AR |
| Primary testicular failure | CFTR |
| Primary unexplained infertility | HLA-G, ITGB3, FOXP3, LIF, SPP1 |
| Primary unexplained infertility | IL6, IL6R, IL6ST |
| Prion diseases | SEMA3A |
| Progressive motility | A2M, ADM |
| Prostate cancer | PIK3CA, SRD5A1, CYP24A1, FHIT, TET2, OGG1, CD82, HGF, PPARG, AR, CDKN1B, GSTP1, PTEN |
| Prostate inflammatory diseases | CXCL8 |
| Prostatic function | EGF |
| Prostatic hyperplasia | EGFR, IL10, TGFB1, VDR |
| Prostatitis | EGF, IL10, IL6 |
| Proteinuria | AGER, GSTM1, GSTT1, HLA-DRB1 |
| Pseudohermaphroditism | HSD17B2, NR5A1 |
| Psoriasis | KIR3DS1, APOE, CCL2, CX3CL1, CYP1A1, EDN1, EGF, FGF1, FGF2, GSTM1, GSTT1, HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-G, IFNG, IL10, IL12, IL13, IL15, IL1A, IL1B, IL1RN, IL23A, IL4, IL6, KIR2DL1, KIR2DS4, KIR3DL1, LTA, MICA, MICB, MIF, MMP2, NAT2, NFKB1, NOD2, NOS2, POU5F1, PPARA, PPARG, PTPN22, TGFB1, TNF, TNFRSF1A, TNFRSF1B, TP53, TYK2, VDR, VEGFA |
| Psychiatric disorders | NPY, ASTN2, CNTF, COMT, CRH, CRHR1, CRHR2, CYP2C19, DRD2, EGF, EGFR, ESR1, GHRH, INHB, L1CAM, LEP, LEPR, LHCGR, LIF, NGF, NOS2, NOS3, NR3C1, NTRK2, OPRM1, OXTR, PLCD1, PRL, PRLR, PTN, SLC6A4, ADA |
| Pterygium | OGG1, TNF |
| Puerperal disorders | SLC6A4, TNF |
| Pulmonary disease | ANXA5, CFTR, CRP, CSF2 |
| Pulmonary fibrosis | IL2, TGFB1, TGFB2, TIMP3 |
| pulmonary hypertension | HLA-A, HLA-B, ENG |
| Pulmonary sarcoidosis | HLA-DRB1 |
| Quebec platelet disorder | PLAU |
| Raas-Rothschild syndrome | WNT7A |
| Rapp-Hodgkin syndrome | TP63 |
| Rectal cancer | PIK3CA |
| Rectosigmoid endometriosis | PGR, HOXA10, ESR1 |
| Rectovaginal endometriosis | MMP2 |
| Recurrent aphthous stomatitis | TNF |
| Recurrent early pregnancy | PGR |
| Recurrent empty follicle syndrome | PLA2G2A, TGFB1 |
| Recurrent implantation failure (RIF) | COX2, PAEP, HLA-C2, HLA-G, IL10, IL15, IL1B, ITGAV, LIF, MMP2, MMP9, MUC1, p53, PGR, SERPINE1, TP53, VEGFA |
| Recurrent miscarriage | ACE, ADIPOQ, AGTR1, ANGPT2, ANXA5, APOE, BCL2, CASP1, CASP3, CD18, CD29, CRP, CYP17A1, CYP19A1, CYP1A1, CYP1A2, CYP1B1, DPP6, ESR1, ESR2, GCCR, HLA-C, HLA-DQ, HLA-DQA1, HLA-DRB1, HMOX1, ICAM1, IFNG, IL12, IL18, IL1B, IL2, IL4, IL6, ITGA2, ITGA3, ITGA6, ITGAV, LEP, LIF, LTA, MICA, MIF, MMP9, MTHFR, NOS3, PL, PRLR, SERPINE1, TIMP1, TIMP3, TNF, TP63, VDR, VEGFA |
| Recurrent pregnancy loss (RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion | HPSE, HSPD1, HSPA4, CD56, CD69, HLA-A, HLA-B, HLA-B17, HLA-DR, HLA-G, IL10, KIR2DL1, KIR2DS4, KIR3DL1, TGFB1 |
| Recurrent pregnancy loss(RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion | CDH1 |
| Recurrent reproductive failure | TERT |
| Recurrent respiratory papillomatosis | HLA-DRB1 |
| Reduced fertility | HLA-G |
| Reduced fertilization rate | ESR2 |
| Reduced sperm concentration | AMH |
| Reduced sperm quality | HLA-G |
| Reflux esophagitis | CYP2C19 |
| Reifenstein syndrome | AR |
| Renal amyloidosis | FGA |
| Renal cell carcinoma | OGG1, MET |
| Renal coloboma syndrome | PAX2 |
| Renal disease | DCN, HLA-DQA1, MTHFR, NOS3, VEGFA |
| Renal failure | VDR |
| Renal syndrome | TNF |
| Renal tubular damage | CCL2 |
| Renal tubular dysgenesis | AGTR1, ACE |
| Repeated implantation failure (RIF) | MIR196B, MIR199A1, COX2, EMMPRIN, IL6, CXCL8, LPA3, TGFB1, VCAM1 |
| Reproductive failure | CD158a, CD25, FOXP3, HLA-G, IFNG, IL4 |
| Respiration disorders | RND3 |
| Respiratory distress syndrome | ACE, ANGPT2, EGF, HMOX1, IL10, IL6, LTA, TNF, VEGFA |
| Respiratory hypersensitivity | TGFB1 |
| Respiratory tract diseases | TNF |
| Restenosis | CCL11, ACE, CCR5, CETP, HMOX1, ICAM1, IL1A, IL1B, IL1RN, IL4, ITGB2, ITGB3, LTA, MMP3, TP53 |
| Restless legs syndrome | MEIS1 |
| Retarded endometrial differentiation | PAEP |
| Retinal arterial macroaneurysm | IGFBP7 |
| Retinal diseases | NR3C1 |
| Retinal function | MSH2 |
| Retinal Neoplasms | PIK3CA |
| Retinal vascular occlusion | ITGA2, ITGB3, SERPINE1 |
| Retinal vein occlusion | MTHFR |
| Retinal vein thrombosis | MTHFR |
| Retinitis pigmentosa | PROM1 |
| Retinoblastoma | CDKN2A, RB1 |
| Retinopathy | NPY, ACE, AGER, AKR1B1, ANGPT2, APOE, AR, CMA1, EDN1, ESR1, HIF1A, IL1A, IL1B, SERPINF1, VEGFA, PON1 |
| Rhabdomyolysis | IL6 |
| Rhabdomyosarcoma | DICER1 |
| Rheumatic diseases | HLA-A, HLA-B, HLA-C, HLA-DRB1, TNF, TNFRSF1A, TNFRSF1B |
| Rheumatic heart disease | HLA-C, HLA-DQA1, HLA-DRB1 |
| Rheumatoid Arthritis | CSF2, CD40, KLRK1, KIR3DS1, HLA-DRA, AR, C5, CCL21, CCR5, CD40LG, CD69, CXCR3, CYP17A1, CYP19A1, CYP1A2, CYP2C19, DNMT3B, EDN1, ESR1, ESR2, FCRL3, FOLR1, GC, GSTM1, HLA-DQA1, HMOX1, ICAM1, IFNG, IL10, IL13, IL15, IL17A, IL18, IL1A, IL1B, IL1RL1, IL1RN, IL2, IL23A, IL2RA, IL2RB, IL4, IL6, IL6R, ITGAV, LTA, MICA, MICB, MIF, MMP1, MMP12, MMP13, MMP2, MMP3, MMP7, MMP9, MTHFR, NAT2, NFKB1, NFKB2, NOD2, NOS2, NOS3, NOTCH4, NR3C1, NRM, PGR, PLAU, PON1, PPARG, PRDM1, PRKCB, PRL, PTGS2, PTPN22, SAA1, SELE, SERPINE1, SPP1, TGFB1, TLR2, TLR4, TNF, TNFRSF11B, TNFRSF1A, TNFRSF1B, TNFSF13B, TP53, TYK2, VDR, VEGFA, XRCC1, ADA |
| Rheumatoid spondylitis | KIR3DS1, TGFB1 |
| Rhinitis | EGR1, HLA-DRB1, IL13, IL18, IL1A, IL1B, IL1RL1, MMP2, CSF2, IL22RA1 |
| Rickets | VDR |
| Ritscher-Schinzel syndrome 2 | CCDC22 |
| Robinow syndrome | WNT5A |
| Russell-Silver syndrome | H19, IGF2 |
| Salivary gland cancer | CDKN2A, EGFR, ERBB2 |
| SAPHO syndrome | NOD2 |
| Sarcoidosis | HLA-DRA, ACE, CCL3, CCL5, CCR5, CFTR, CHI3L1, CMA1, FLT1, FOXP3, HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-G, IFNG, IGHG1, IGKC, IL10, IL18, IL1A, IL1B, IL6, KDR, MIF, MMP1, NFKB1, NOD1, NOD2, PPARG, PTGS2, SELE, SPP1, TGFB1, TLR2, TLR4, TLR9, TNF, VEGFA |
| Sarcoma | GSTM1, TP53, XRCC1 |
| Scarring trachoma | TNF |
| Schimmelpenning-Feuerstein-Mims syndrome | KRAS, NRAS |
| Schizencephaly | EMX2, COL4A5 |
| Schizoaffective disorder | DRD2 |
| Schizophrenia | SRD5A1, PEMT, PIK3CA, NPY, ACE, ADAM22, AKT1, APOE, AR, ASTN2, ATM, BDNF, CCL2, CCR5, CHI3L1, CLDN5, CLOCK, CNTF, COMT, CRH, CRHR1, CRHR2, CSF2RB, CYP1A2, CYP26A1, DPYSL2, DRD2, EGF, ENO2, ERBB3, FCRL3, FN1, FYN, GHRL, GPX1, GSK3B, GSTM1, GSTP1, GSTT1, HLA-A, HLA-DQA1, HLA-DRB1, HP, ICAM1, IGF1R, IGFBP3, IL10, IL1A, IL1B, IL1R1, IL1RN, IL2, IL2RB, IL4, IL5, IL6, IL6R, ITGA3, L1CAM, LEP, LIF, MICB, MMP3, MMP9, MST1R, MTHFR, NAT2, NCAM1, NFKB1, NOTCH4, NR3C1, NRP1, PLA2G2A, PLA2G4A, PTGDS, PTGS1, PTGS2, PTK2, SLC6A4, TF, TIMP3, TLR4, TNF, TNFRSF1B, TP53, XRCC1, YWHAH, IL9, PON1, PPARG, C4A |
| Scleroderma | HLA-DRA, ESR1, ESR2, HLA-A, HLA-DRB1, IL2, MMP1, SPARC, TLR4, TNF |
| Sclerosis | CCL2, CCL5, EDNRA |
| Scoliosis | ESR1, ESR2, IGF1, VDR |
| Sea-blue histiocyte disease | APOE |
| Secondary amenorrhea | AMH, FSHB, INHB, LHB, PRL, SHBG |
| Secondary hyperprolactinaemia | TSH |
| Secondary infertility | MTHFR, SERPINE1 |
| Secondary oligoamenorrhea | AMH, INHB |
| Seizures | NPY, BDNF, CYP2C19 |
| Semen quality | FSHR, HCG, HSPB1, SOD1 |
| Seminiferous tubular function | TF |
| Sensation Disorders | GSTP1, GSTZ1 |
| Sepsis | HMGB1, IL6, LTA, MIF, TNF |
| Septo-optic dysplasia | SOX2 |
| SERKAL syndrome | WNT4 |
| Seronegative arthritis | HLA-B |
| Sertoli cell-only syndrome (SCOS) | ACE, AMH, AR, BMP4, CASP3, CTNNB1, CYP11A1, CYP19A1, EGFR, ESR1, ESR2, FSHB, HSD3B2, hTR, IL1B, INHB, LEP, LEPR, LHB, MLH1, MSH2, NOS2, NR5A1, PCNA, PGR, PRL, TERT, TF, TGFA, TGFB1, VIM |
| Several psychiatric disorders | AGTR1, NRP1, NTF4 |
| Severe Acute Respiratory Syndrome | IL10, IFNG, HLA-DRB1, FCER2 |
| Severe combined immunodeficiency | IL2 |
| Severe oligozoospermia | AHRR |
| Severe spermatogenic impairment | HLA-DRB1 |
| Severe type III hyperlipoproteinemia | APOE |
| Sexual infantilism | CYP17A1 |
| Short stature | IGF1 |
| SHORT syndrome | PIK3R1 |
| Sickle cell anemia | ACE, CCR5, EDN1, HLA-DRB1, HLA-G, MTHFR, NOS3, TNF |
| Silicosis | IL1A, IL1B, IL1RN, NFKB1, TNF, TNFRSF1B |
| Sinusitis | TNF |
| Sjogren's Syndrome | KIR3DS1, CCR5, FAS, FASLG, HLA-A, HLA-B, HLA-C, HLA-DQA1, IFNG, IGHG1, IGKC, IL10, IL13, IL1R1, IL4, IL6, KIR2DL1, KIR2DS4, KIR3DL1, MMP9, PTPN22, TGFB1, TNFSF13B, HLA-DRB1 |
| Sleep apnea | IL1B, IL6, NOS3, TNF |
| Sleep disorders | L1CAM, SLC6A4 |
| Small cell lung cancer | FHIT, BCL2, MYC, PTEN, RB1, TP53 |
| Smith-Kingsmore syndrome | MTOR |
| Smith-Lemli-Opitz syndrome | APOE |
| Sorsby fundus dystrophy | TIMP3 |
| Spastic paraplegia | HSPD1, UCHL1 |
| Sperm functional defects | TNF |
| Spermatogenetic defects | ADM, AKT1, AMH, AR, AT2R, BIRC5, CASP1, CASP3, CFTR, COX2, CTNNB1, CYP11A1, CYP17A1, CYP19A1, CYP1A1, DNMT3B, DNMT3L, ENO1, ESR1, ESR2, EZH2, FSHB, FSHR, GHRL, GSK3B, GSTM1, H19, H2AX, HCG, HER2, HGF, HLA-A, HLA-B, HLA-DR, HLA-DRB1, HSD17B1, HSD17B2, HSPB1, IL1, IL1A, IL1B, IL1-R1, IL1-RA, IL6, INHB, LAP, LHB, MAPK1, MIF, MIR122, MIR19B1, MIR34C, MIRLET7A1, MTHFR, mTOR, NGF, NR5A1, p38, p53, PAEP, PLAU, PON1, PGR, SCF, SHBG, SRD5A2, TERT, TNF, TP53, VDR, VIM |
| Spermatogenic defects | SLC22A23 |
| Spina bifida | MTHFR |
| Spinal and bulbar muscular atrophy | AR |
| Spinal Cord Injuries | APOE |
| Spinal disc degeneration | HTRA1 |
| Spinal diseases | IGF1R, IL1A, IL1B, IL6, MMP1, MMP3, MMP9 |
| Spinal dysraphism | DNMT1, DNMT3A, FOLR1, MAT2A, MTHFR, NAT2, NOS2, NOS3, PDGFRA |
| Spinal ossification | ESR1, VDR |
| Spinocerebellar ataxia | COX2, MME |
| Split-hand/foot malformation | DLX5, TP63 |
| Spondylarthritis | HLA-A, NOD2, TNC |
| Spondylitis | KIR3DS1, CSF2RB, HLA-B, IL1A, IL1B |
| Spondyloarthropathies | HLA-DRA, CYP17A1, FAS, HLA-B, HLA-C, MICA |
| Spondyloepimetaphyseal dysplasia | BGN, MMP13 |
| Spondyloocular syndrome | XYLT2 |
| Spondylosis | ESR1 |
| Spontaneous abortion | KIR3DS1, HSPD1 |
| Spontaneous preterm birth | IL10, IL4 |
| Squamous cell carcinoma | FAS, CDKN2A, KRAS, TP53 |
| Stargardt disease | PROM1 |
| Steroidogenic dysfunction | GHRL |
| Stevens-Johnson syndrome | HLA-A, HLA-B, MICA, POU5F1, TLR3 |
| Sticky platelet syndrome | GAS6 |
| Still's disease | IL18 |
| Stomach cancer | OGG1 |
| Stomatitis | HLA-A, HLA-B, HLA-DRB1, SLC6A4, TNF |
| Stress disorder | DRD2, NR3C1 |
| Stroke | HLA-DRA, ACE, AGTR1, ANGPT2, ASTN2, FGA, GAS6, IL6, ITGB6, KDR, OLFM4 |
| Stuve-Wiedemann syndrome | LIFR |
| Subarachnoid Hemorrhage | BDNF |
| Subfertility | WNT4, MUC16, KIFAP3, GRB14, CYP2B6, CAB39L |
| Sudden infant death syndrome (SIDS) | EDN1, IFNG, IL4, IL6, SLC6A4, TGFB1, VEGFA |
| Syncytial virus bronchiolitis | TNF |
| Syndactyly | GJA1 |
| Syndromic X-linked mental retardation with epilepsy or seizures | L1CAM |
| Synovial sarcoma | IGF1R |
| Synovitis | HLA-B |
| Synpolydactyly | FBLN1 |
| Systemic inflammatory hyporesponsiveness | TLR4 |
| Systemic inflammatory response syndrome | TLR2, TNF |
| Systemic lupus erythematosus | KIR3DS1, HLA-DRA, ACE, AGER, AIF1, BCL2, C3, C4A, CCL17, CCL2, CCL5, CCR5, CD40LG, CDKN1A, CRP, CXCL12, CXCR3, CYP17A1, CYP1A1, CYP2C19, DNMT1, EGFR, EHMT2, ESR1, FAS, FASLG, FCER1G, FCRL3, FSHR, GSTM1, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-G, IFNG, IL10, IL16, IL18, IL1A, IL1B, IL1RN, IL2, IL2RA, IL4, IL6, ITGB3, KIR2DL1, KIR2DS4, KIR3DL1, LAMC2, LTA, MICA, MICB, MIF, MMP9, MTHFR, NAT2, NOD2, NOS2, NOS3, NOTCH4, NR3C1, NRM, PAI1, POU5F1, PRDM1, PRL, PRLR, PTGS2, PTPN22, SELE, SERPINE1, SPP1, TGFB1, TGFB2, TLR2, TLR4, TLR9, TNF, TNFRSF11B, TNFRSF1A, TNFRSF1B, TNFSF10, TNFSF13B, TP53, TYK2, VDR |
| Systemic scleroderma | IFNG, IL1R1, IL6, NOTCH4, PTPN22 |
| Systemic sclerosis | ACE, CYP2C19, FN1, HLA-DQA1, HLA-DRB1, IL1A, IL1B, IL1R1, MMP1, NOS3, PTPN22, TGFB1, TIMP1, TNF, TNFRSF1B, VEGFA |
| T lymphoblastic leukemia | MYC, NOTCH1 |
| Takayasu arteritis | PTPN22 |
| Takenouchi-Kosaki syndrome | CDC42 |
| Tardive dyskinesia | COMT, CYP17A1, CYP1A2, DRD2, GSTM1, GSTT1, NOS3, SLC6A4 |
| Tatton-Brown-Rahman syndrome | DNMT3A |
| Telangiectasia | ENG |
| Temporal lobe epilepsy | IL1B |
| Teratozoospermia | AR, CASP3, CFTR, CYP19A1, PGR, STAT3, TP2 |
| Testicular anomalies | ESR2, FSHB, MIF, STAR, UCHL1 |
| Testicular dysgenesis syndrome (TDS) | AR |
| Testicular dysgenesis syndrome(TDS) | NR5A1 |
| Testicular failure | AR3 |
| Testicular function | AMH |
| Testicular germ cell cancer | ESR1, ESR2, LHCGR |
| Testicular germ cell tumor | SULT1E1 |
| Testicular maldescent | SHBG |
| Testicular spermatogenesis | INHB |
| Testicular dysfunction | IL6 |
| Testis development | AR |
| Tetralogy of Fallot | GATA6, JAG1 |
| Thrombocytopenia | FAS, FASLG, ITGA2, ITGB3, MTHFR, SRC |
| Thromboembolism | IL1R2, MTHFR |
| Thrombophilia | FGA, ITGB3, MTHFR, SERPINE1 |
| Thryoiditis | HLA-DRB1, TNF, IL1R1, IL1B |
| Thyroid autoimmunity | FOXP3 |
| Thyroid cancer | PIK3CA, CSF2, BRAF, CDH1, CTNNB1, KRAS, TP53, TPM3, NRAS |
| Thyroid diseases | IGF1, IGFBP3 |
| Thyroid tumor progression | TP53 |
| Thyrotoxic periodic paralysis | ATP1B4 |
| Tonsillar cancer | CDKN2A, HIF1A, MYC |
| Tooth agenesis | FGFR1 |
| Torg-Winchester syndrome | MMP2 |
| Tourette syndrome | ACP1, COMT, DRD2, SLC6A4 |
| Trachoma | HLA-B, HLA-DRB1 |
| Trigeminal neuralgia | ESR1 |
| Trigonocephaly | FGFR1 |
| Tubal damage | INHA, INHB |
| Tubal factor infertility | AMH, BIRC5, EGFR, GM-CSF, HLA-DQA1, IL10, IL1B, IL6, INHA, TLR4 |
| Tubal infertility | PGR, KDR, FLT4, FLT1, ESR1, CCL5, CCL2 |
| Tubular damage | EGFR |
| Turner Syndrome (TS) | AR, BDNF, HLA-DR, MTHFR, TGFB2 |
| Turner Syndrome(TS) | HLA-A, HLA-B, VDR |
| Type 1 diabetes mellitus | INS |
| Type 2 diabetes | CSF2 |
| Ulcerative colitis | MST1, HLA-DRA, CCL11, CADM2, HLA-B, HLA-C, HLA-DRB1, IL10, IL11, IL17F, IL1B, IL1R1, IL1R2, IL1RN, IL4, KRAS, LTA, MICA, MICB, MMP1, MMP3, MTHFR, NFKB1, NOTCH4, PARK7, PTGS1, STAT6, TLR2, TLR4, TNF, TP53, VEGFA, WNT4, AGER, CXCR2, MLH1, CDH3, PPARG |
| Ullrich-Turner syndrome (UTS) | HLA-A1 |
| Undermasculinized genitalia | AR |
| Undescended testis | AMHR2, AR |
| Unexplained azoospermia | DNMT3L, MTHFR, RID2 |
| Unexplained female infertility | ESR1, IL11, MTHFR, STAT3 |
| Unexplained infertility | INHA, IL8, IL6, CCL2, ADM, AMH, AMHR2, APOA1, APOE, BAX, BCL2, CD56, CD69, CFL1, eNOS, fMLP, FSHB, H19, HB-EGF, HCG, HLA-A, HLA-B, HLA-C, HLA-DR, HOXA10, IGF2, IGF1R, IL12, IL1R1, IL2, INHB, NOS, ITGAV, ITGB3, LHB, MMP2, MMP9, NOS3, p53, PEP, PGM1, IL2RA, SOD1, TATI, TGFB1, TIMP1, TIMP3, TNF, SBP1, VCAM1, VEGFA, VEGFR1, PRL, CD44, ESR1, IFNG, IL10, IL15, IL17A, IL18, LIF, PGR, MTHFR, SOCS3, FSHR |
| Unexplained miscarriages | HB-EGF, HPSE |
| Unexplained pregnancy loss | MTHFR |
| Unexplained recurrent pregnancy loss (RPL) | LEP, MUC1, MTHFR |
| Unexplained severe male infertility | MTHFR |
| Unexplained infertility | LIF, IL2RA, IL4 |
| Unilateral agenesis of the vas deferens | CFTR |
| Unilateral cryptorchidism | AMH |
| Unilateral or bilateral cryptorchidism | FGFR1 |
| Unilateral orchiopexy | AMH |
| Upper aerodigestive tract cancer | OGG1 |
| Uremia | PON1 |
| Uremic Syndrome | AGTR1 |
| Urogenital Abnormalities | CFTR |
| Urolithiasis | AR, PLAU, VDR |
| Urticaria | HLA-A, HLA-B, HLA-DRB1, TGFB1 |
| Uterine anomalies | FLT1, KDR |
| Uterine cervical incompetence | TGFB1, TNF |
| Uterine dysfunction | MIR29C |
| Uterine endometriosis | MMP2 |
| Uterine fibroids | CYP17A1, CYP1A1 |
| Uterine leiomyomas | AR, HMGA2, ANGPT2, TP53, AMH |
| Uterine leiomyomata | TF, AHSG |
| Uterine or ovarian hypoplasia | NR5A1 |
| Uterine receptivity | ITGAV, ESR1 |
| Uterine receptivity defects | ITGA6 |
| Uveitis | CCL2, CCL5, HLA-A, HLA-C, IFNG, IL10, LTA, NOD2, PTPN22 |
| Uveomeningo encephalitic syndrome | KIR2DS4, KIR3DL1, FCRL3, HLA-A, HLA-B, HLA-C, KIR2DL1, PTPN22 |
| Uveomeningoencephalitic Syndrome | KIR3DS1, HLA-DRA |
| Varicocele | IL17A, ACP1, ADM, AKT1, AMH, Apurinic/apyrimidinic endonuclease 1, BAX, BCL2, CASP3, CAT, COX1, COX2, CPP32, FAS, FASLG, FSHB, GSH, GSK3B, GSTM1, GSTP1, GSTT1, HIF1A, Hsp70, HSP90AA1, HSPA4, IL6, INHB, LEP, LEPR, LHB, MTHFR, NOS2, NOS3, p38, p53, PI3K, 2798, SOD1, TNF, TR, TF, XRCC1, ACE, HSP90, SRD5A1 |
| Varicose ulcers | ESR1 |
| Vascular dementia | ICAM1 |
| Vascular disease | MTHFR |
| Vasculitis | MIF |
| Venous malformations | TEK |
| Venous thrombosis | AQP2 |
| Visual disorder | CYP2C19 |
| Vitamin D-dependent rickets | VDR |
| Vitiligo | CAT, COMT, EDN1, HLA-A, HLA-B, HLA-C, HLA-DRB1, IFNG, IL1RN, IL2RA, IL4, KITLG, PTGS2, PTPN22, TNF, CLEC11A, HGF |
| Vitreoretinal degeneration | COL18A1, VCAN |
| Vogt-Koyanagi-Harada syndrome | HLA-DQA1, KIR2DL1, KIR2DS4, KIR3DL1, HLA-DRB1 |
| von Hippel-Lindau syndrome | CCND1 |
| von Willebrand Disease | ITGB3, MTHFR |
| Vulvar cancer | PTEN |
| Vulvar vestibulitis | IL1RN |
| Wagner syndrome | VCAN |
| WAGR syndrome | WT1 |
| Weaver syndrome | EZH2 |
| Wegener granulomatosis | NOD2, TGFB1, PPARA, CCL5, CCR5, IFNG, IL10, IL2RB, PTPN22, TNF, PPARG |
| Wegener's granulomatosis | CD40 |
| Welander distal myopathy | TIA1 |
| Williams-Beuren syndrome | CLDN4, LIMK1 |
| Wilms tumor | WT1, H19 |
| Wilsons disease | APOE |
| X-linked adrenoleukodystrophy | AR |
| Xanthinuria | XDH |
| Xeroderma pigmentosum | TP53 |
| XX gonadal dysgenesis | FSHR |
| Yao syndrome | NOD2 |
| Zona pellucida-binding capacity of spermatozoa | ADM |
| {?Amyloidosis, secondary, susceptibility to} | APCS |
| {Myocardial infarction, susceptibility to} | GCLC |
| {Pulmonary disease, chronic obstructive, susceptibility to} | SERPINA1 |
| {Renal cell carcinoma} | HNF1B |
| {Systemic lupus erythematosus, susceptibility to, 11} | STAT4 |