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Genetic testing for thousands of inherited conditions.
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- Condition reports
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- Risk scores
- 50
Who We HelpOur ScienceProductsOutcomes
Log InAskGet Startedfrom $449
Condition reports
- CancerView 43 condition reports
- CardiovascularView 31 condition reports
- DermatologicalView 27 condition reports
- EndocrineView 24 condition reports
- GastrointestinalView 21 condition reports
- HematologicalView 33 condition reports
- ImmunologicalView 42 condition reports
- MetabolicView 99 condition reports
- MusculoskeletalView 121 condition reports
- NeurologicalView 183 condition reports
- NutritionView 6 condition reports
- OphthalmologicalView 51 condition reports
- OralView 9 condition reports
- OtherView 8 condition reports
- OtolaryngologicalView 11 condition reports
- PsychiatricView 4 condition reports
- RespiratoryView 10 condition reports
- Sexual HealthView 8 condition reports
- SleepView 1 condition report
- ToxicologyView 4 condition reports
- UrologicalView 25 condition reports
Risk scores
- Brain & nervous systemView 2 risk scores
- CancerView 7 risk scores
- Digestive healthView 3 risk scores
- Heart & circulationView 9 risk scores
- Immune & inflammatoryView 3 risk scores
- Lifestyle & traitsView 6 risk scores
- Longevity & ageingView 7 risk scores
- Mental health & wellbeingView 8 risk scores
- Metabolism & bodyView 5 risk scores
Cancer
Diseases characterized by the uncontrolled growth and spread of abnormal cells; also known as oncological conditions.
Condition reports in this category (43)
- BAP1 Tumour Predisposition SyndromeBAP11 condition→
- Birt-Hogg-Dubé SyndromeFLCN2 conditions→
- Bloom SyndromeBLM1 condition→
- Breast and Ovarian Cancer Genes Beyond BRCA1/2ATM, BARD1, BRIP1, CDH1, CHEK2, CTNNA1 +39 conditions→
- CYLD Cutaneous SyndromeCYLD1 condition→
- Colorectal Cancer & PolyposisAPC, AXIN2, MSH3, MUTYH, NTHL1, POLD1 +18 conditions→
- Cowden Syndrome (PTEN hamartoma tumour syndrome)AKT1, PTEN10 conditions→
- DICER1 Tumour PredispositionDICER11 condition→
- DNA Repair DiseaseAPTX, BRCA1, BRCA2, BRIP1, COA7, DCLRE1C +371 condition→
- FANCM-Related Genomic Instability DisorderFANCM1 condition→
- Hereditary Breast and Ovarian Cancer (BRCA1/2)BRCA1, BRCA23 conditions→
- Hereditary Diffuse Gastric CancerCDH1, CTNNA13 conditions→
- Hereditary Gastrointestinal Stromal TumourKIT, PDGFRA, SDHB, SDHC1 condition→
- Hereditary Leiomyomatosis and Renal Cell CancerFH1 condition→
- Hereditary Mixed Polyposis SyndromeBMPR1A, GREM12 conditions→
- Hereditary Pheochromocytoma and ParagangliomaEGLN1, MAX, RET, SDHA, SDHAF2, SDHB +44 conditions→
- Hereditary Prostate CancerHOXB131 condition→
- Hereditary RetinoblastomaRB11 condition→
- Hereditary Wilms TumourREST, WT11 condition→
- Inherited Predisposition to Acute Myeloid LeukaemiaANKRD26, CEBPA, ETV6, GATA2, RUNX1, TERC +11 condition→
- Inherited Predisposition to Myeloid Blood CancersDDX41, GATA2, SAMD9, SAMD9L5 conditions→
- Juvenile Polyposis SyndromeBMPR1A, SMAD42 conditions→
- Li-Fraumeni SyndromeTP531 condition→
- Lung CancerDICER1, EGFR1 condition→
- Lynch SyndromeEPCAM, MLH1, MSH2, MSH6, PMS22 conditions→
- Malignant Endocrine NeoplasmCDC73, CDKN1B, MEN1, RET, SDHA, SDHAF2 +23 conditions→
- MedulloblastomaELP1, GPR161, SUFU2 conditions→
- MelanomaCDK4, CDKN2A, MITF, POT13 conditions→
- Mosaic Variegated Aneuploidy SyndromeBUB1B, CEP57, SLF2, SMC5, TRIP131 condition→
- Myelodysplastic Syndrome (MDS)ERG, GATA2, SAMD91 condition→
- NTHL1 Tumour Predisposition SyndromeNTHL11 condition→
- Neuroblastoma Predisposition (ALK and PHOX2B)ALK, PHOX2B2 conditions→
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromePTCH1, SUFU1 condition→
- PALB2 related diseasesPALB23 conditions→
- PAX5-Related Leukaemia PredispositionPAX51 condition→
- Perlman SyndromeDIS3L21 condition→
- Peutz-Jeghers SyndromeSTK111 condition→
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionSMARCA4, SMARCB1, SMARCE12 conditions→
- Rothmund-Thomson SyndromeANAPC1, CRIPT, RECQL41 condition→
- Serrated Polyposis Syndrome (RNF43)RNF431 condition→
- Thyroid CancerAIRE, ALB, CASR, CDC73, DUOX2, DUOXA2 +2562 conditions→
- Uterine Fibroids2 conditions→
- Von Hippel-Lindau DiseaseVHL1 condition→
Cardiovascular
Conditions involving the heart, blood vessels (arteries, veins), and the body's circulatory system.
Condition reports in this category (31)
- Aortic AneurysmACTA2, ARIH1, FBN1, FOXE3, LOX, MFAP5 +74 conditions→
- Arrhythmogenic CardiomyopathyCDH2, DES, DSC2, DSG2, DSP, JUP +54 conditions→
- Brugada SyndromeSCN5A1 condition→
- Cantú SyndromeABCC9, KCNJ81 condition→
- Cardiac-Urogenital SyndromeMYRF1 condition→
- Catecholaminergic Polymorphic Ventricular TachycardiaCALM1, CALM2, CALM3, CASQ2, RYR2, TECRL +12 conditions→
- Dilated CardiomyopathyABCC9, ACTC1, BAG3, BAG5, DES, DMD +441 condition→
- FLT4-Related Congenital Heart DiseaseFLT41 condition→
- Familial Atrial FibrillationGJA5, KCNJ2, KCNQ1, MYL41 condition→
- Hereditary Arterial CalcificationABCC6, ENPP1, NT5E2 conditions→
- Hereditary Hemorrhagic TelangiectasiaACVRL1, ENG, GDF2, SMAD48 conditions→
- Hereditary Vascular MalformationsEPHB4, GLMN, RASA1, TEK4 conditions→
- Heritable Pulmonary Arterial Hypertension (HPAH)ATP13A3, BMPR2, CAV1, EIF2AK4, KCNK3, SMAD93 conditions→
- Heterotaxy & Laterality DefectsACVR2B, CFAP53, CFC1, CIROP, DAW1, GDF1 +52 conditions→
- Hypertrophic CardiomyopathyACADVL, ACTC1, ALPK3, BRAF, CDKN1C, CSRP3 +561 condition→
- Inherited Congenital Heart DefectsACTC1, ELN, FLNA, GATA4, GATA6, MYH6 +711 conditions→
- Left Ventricular NoncompactionACTC1, LDB3, MIPEP, MYBPC3, MYH7, TNNT2 +12 conditions→
- Loeys-Dietz SyndromeSMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR23 conditions→
- Long QT SyndromeCACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNH2 +41 condition→
- Monogenic Hypertension & Mineralocorticoid DisordersCACNA1D, CACNA1H, CUL3, CYP11B1, CYP11B2, HSD11B2 +97 conditions→
- Moyamoya DiseaseACTA2, GUCY1A1, RNF213, SAMHD11 condition→
- NR2F2-Related Congenital Anomalies SyndromeNR2F21 condition→
- Noonan SyndromeBRAF, CBL, ERF, HRAS, KRAS, LZTR1 +163 conditions→
- PLD1-Related Congenital Heart DiseasePLD11 condition→
- Primary Lymphoedema & Lymphatic MalformationsADAMTS3, ANGPT2, CCBE1, CELSR1, EPHB4, FAT4 +1017 conditions→
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeCACNA1D, DES, HCN4, LMNA, POPDC2, SCN5A +27 conditions→
- Restrictive CardiomyopathyTNNI3, TNNT25 conditions→
- Short Qt SyndromeKCNH2, KCNJ2, KCNQ1, SLC4A31 condition→
- Syndromic and Metabolic CardiomyopathiesACTN2, AGK, CAMK2D, NKX2-5, PRKAG2, SLC25A47 conditions→
- Tetralogy of FallotKDR, NKX2-5, ZFPM21 condition→
- ThrombophiliaF2, F5, F9, HRG, PROC, PROS1 +32 conditions→
Dermatological
Conditions affecting the skin, hair, nails, and their associated glands.
Condition reports in this category (27)
- Cutis LaxaALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, EFEMP1 +101 condition→
- Darier and Hailey-Hailey DiseaseATP2A2, ATP2C13 conditions→
- Dyschromatosis Symmetrica HereditariaADAR1 condition→
- Dyskeratosis CongenitaACD, CDCA7, CTC1, DCLRE1B, DKC1, DNMT3B +172 conditions→
- Ectodermal DysplasiasCST6, EDA, EDAR, EDARADD, GJB6, HOXC13 +1216 conditions→
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaEVC, EVC2, IFT122, IFT43, IFT52, WDR19 +13 conditions→
- Epidermolysis BullosaCD151, COL17A1, COL7A1, DSP, DST, EXPH5 +138 conditions→
- Familial Hidradenitis SuppurativaNCSTN, PSENEN1 condition→
- Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)TGFBR11 condition→
- Fibrodysplasia Ossificans ProgressivaACVR1, GNAS2 conditions→
- Focal Dermal Hypoplasia (Goltz Syndrome)PORCN1 condition→
- GAPO SyndromeANTXR11 condition→
- Griscelli SyndromeMLPH, MYO5A, RAB27A1 condition→
- H SyndromeSLC29A31 condition→
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixAPCDD1, C3orf52, CDH3, CDSN, DSG4, HR +107 conditions→
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaAAGAB, AP1B1, AQP5, CTSC, DSG1, DSP +291 condition→
- IFAP Syndrome (MBTPS2)MBTPS21 condition→
- Ichthyosis VulgarisFLG1 condition→
- Inherited IchthyosesABCA12, ALOX12B, ALOXE3, CDSN, CERS3, CLDN1 +189 conditions→
- Lipoid ProteinosisECM11 condition→
- PLEC-Related Epidermolysis Bullosa and Muscular DystrophyPLEC1 condition→
- PorokeratosisFDPS, MVD, MVK, PMVK1 condition→
- Prolidase DeficiencyPEPD1 condition→
- Pseudoxanthoma ElasticumABCC6, GGCX2 conditions→
- Restrictive Dermopathy (ZMPSTE24)ZMPSTE241 condition→
- Scalp-Ear-Nipple SyndromeKCTD11 condition→
- Tylosis with Oesophageal CancerRHBDF21 condition→
Endocrine
Disorders of the glands that produce hormones, which regulate metabolism, growth, mood, and development.
Condition reports in this category (24)
- Autoimmune Polyendocrine Syndrome Type 1 (APECED)AIRE1 condition→
- Carney Complex & Hereditary Adrenal Cushing SyndromeARMC5, PDE11A, PDE8B, PRKAR1A3 conditions→
- Congenital Adrenal HyperplasiaCYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR +13 conditions→
- Congenital HypothyroidismDUOX2, DUOXA2, FOXE1, IGSF1, IRS4, IYD +143 conditions→
- Familial Glucocorticoid DeficiencyAAAS, MC2R, MRAP, NDC1, NNT, NR0B1 +24 conditions→
- Familial Isolated Pituitary Adenoma (FIPA / X-LAG)AIP, GPR1012 conditions→
- Graves Disease5 conditions→
- Growth Hormone Insensitivity & IGF-1 Axis DisordersGHR, GHSR, IGF1, IGF1R, IGFALS, STAT5B2 conditions→
- HyperinsulinismABCC8, FOXA2, GCK, GLUD1, HADH, HK1 +56 conditions→
- HyperthyroidismALB, THRB, TSHR1 condition→
- Hypogonadotropic HypogonadismANOS1, ARHGAP35, CHD7, CPE, DCAF17, FEZF1 +452 conditions→
- Inherited Parathyroid & Calcium-Sensing DisordersAP2S1, CASR, CDC73, GATA3, GCM2, GNA11 +16 conditions→
- Maturity-Onset Diabetes Of The YoungABCC8, APPL1, CEL, GCK, HNF1A, HNF1B +61 condition→
- Monogenic Obesity (Leptin-Melanocortin Pathway)CEP19, LEP, LEPR, MC4R, PCSK1, POMC +11 condition→
- Monogenic Precocious PubertyDLK1, LHCGR, MKRN32 conditions→
- Neonatal Diabetes MellitusABCC8, BSCL2, EIF2B1, GATA4, GATA6, GCK +141 condition→
- Non-Acquired Combined Pituitary Hormone DeficiencyCDON, CNOT1, DISP1, FOXA2, GH1, GHRHR +202 conditions→
- PDX1-Related Pancreatic AgenesisPDX11 condition→
- Pendred SyndromeSLC26A42 conditions→
- Polycystic Ovary SyndromeFSHR2 conditions→
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersGNAS, PDE4D, PRKAR1A, STX163 conditions→
- Severe Inherited Insulin ResistanceAKT2, INSR4 conditions→
- Thyroid Hormone Resistance, Transport & Metabolism DefectsSECISBP2, SLC16A2, THRB4 conditions→
- Wolfram Syndrome & WFS1 SpectrumCISD2, WFS12 conditions→
Gastrointestinal
Conditions related to the digestive system, including the oesophagus, stomach, intestines, liver, and pancreas.
Condition reports in this category (21)
- ACOX2 Deficiency (Bile Acid Synthesis Defect 6)ACOX21 condition→
- ARC Syndrome 1 (VPS33B)VPS33B1 condition→
- ARC Syndrome 2 (VIPAS39)VIPAS391 condition→
- Alagille SyndromeJAG1, NOTCH21 condition→
- CHAPLE Disease (CD55 Deficiency)CD551 condition→
- Congenital Bile Acid Synthesis Defect 1 (HSD3B7)HSD3B71 condition→
- Congenital Bile Acid Synthesis Defect 2AKR1D11 condition→
- Congenital Diarrhoeas & EnteropathiesDGAT1, EPCAM, GUCY2C, MYO5B, NEUROG3, PLVAP +73 conditions→
- Congenital Disaccharidase DeficienciesLCT, SI2 conditions→
- Congenital Intestinal Atresia & Short BowelCLMP, TTC7A2 conditions→
- Crohn's Disease1 condition→
- Familial Intrahepatic CholestasisABCB11, ABCB4, ATP8B1, KIF12, MYO5B, NR1H4 +41 condition→
- Hereditary Visceral Myopathy, CIPO & MMIHSACTG2, ERBB3, FLNA, MYH11, MYL9, MYLK4 conditions→
- Hirschsprung Disease & Related Enteric NeurocristopathiesKIFBP, PHOX2B, RET4 conditions→
- Inflammatory Bowel Diseases (IBD)ADAM17, EGFR, IL10, IL10RA, IL10RB, TGFB13 conditions→
- Low phospholipid-associated cholelithiasisABCB45 conditions→
- PancreatitisCPA1, CTRC, PRSS1, SPINK1, TRPV61 condition→
- Polycystic Liver Disease (1 and 2)ALG8, LRP5, PRKCSH, SEC634 conditions→
- Townes-Brocks SyndromeSALL11 condition→
- Ulcer Disease18 conditions→
- Ulcerative Colitis1 condition→
Hematological
Conditions affecting the blood, blood-forming organs (like bone marrow), and blood components such as cells and plasma.
Condition reports in this category (33)
- Congenital AfibrinogenemiaFGA, FGB, FGG1 condition→
- Congenital Dyserythropoietic AnaemiasCDAN1, CDIN1, KLF1, SEC23B1 condition→
- Congenital Factor XII DeficiencyF121 condition→
- Congenital Thrombotic Thrombocytopenic PurpuraADAMTS131 condition→
- Diamond-Blackfan AnemiaGATA1, HEATR3, RPL11, RPL15, RPL26, RPL35A +81 condition→
- Fanconi AnemiaBRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB +121 condition→
- G6PD DeficiencyG6PD1 condition→
- HaemophiliaF11, F8, F91 condition→
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsCYB5A, CYB5R3, HBA1, HBA2, HBB3 conditions→
- Hereditary Sideroblastic AnaemiasABCB7, ALAS2, GLRX5, HSPA9, PUS1, SLC25A38 +21 condition→
- Hereditary SpherocytosisANK1, EPB42, SLC4A1, SLC4A2, SPTA1, SPTB1 condition→
- Hereditary Thrombocythaemia (JAK2)JAK21 condition→
- Hereditary Thrombocythaemia (THPO)THPO1 condition→
- Hereditary Von Willebrand DiseaseGP1BA, VWF1 condition→
- High-Molecular-Weight Kininogen DeficiencyKNG11 condition→
- ITGA2B/ITGB3-Related MacrothrombocytopeniaITGA2B, ITGB31 condition→
- ITGB3-Related MacrothrombocytopeniaITGB31 condition→
- Inherited Fibrinolytic DisordersPLAU, PLG, SERPINE1, SERPINF24 conditions→
- Inherited Iron Metabolism DisordersCP, SLC11A2, TF, TMPRSS64 conditions→
- Inherited Platelet Function DisordersGP1BA, GP1BB, GP6, GP9, ITGA2B, ITGB3 +36 conditions→
- Inherited ThrombocytopeniasACTB, ACTN1, ADAMTS13, ANKRD26, ARPC1B, CDC42 +282 conditions→
- MPL-Related Hereditary ThrombocythaemiaMPL1 condition→
- PolycythemiaEGLN1, EPAS1, EPO, EPOR, HBA1, HBA2 +28 conditions→
- Prekallikrein DeficiencyKLKB11 condition→
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersAK1, GCLC, GPI, GSR, HK1, NT5C3A +28 conditions→
- Rare Inherited Bone Marrow Failure SyndromesADH5, DNAJC21, ERCC6L2, MECOM, MYSM1, SRP722 conditions→
- Rare Inherited Coagulation Factor DeficienciesF10, F13A1, F13B, F2, F5, F7 +45 conditions→
- Rare Inherited Megaloblastic AnaemiasDHFR, UMPS2 conditions→
- Red Blood Cell Membrane DisordersEPB41, KCNN4, PIEZO1, RHAG, RHCE, SLC4A1 +24 conditions→
- Severe Congenital NeutropeniaCLPB, CSF3R, CXCR2, CXCR4, ELANE, G6PC3 +63 conditions→
- Shwachman-Diamond SyndromeEFL1, SBDS1 condition→
- Sickle Cell DiseaseHBB5 conditions→
- ThalassaemiaHBA1, HBA2, HBB, HBG1, HBG22 conditions→
Immunological
Disorders of the immune system, including allergies, autoimmune diseases, and immunodeficiencies.
Condition reports in this category (42)
- Activated PI3K-Delta Syndrome (APDS)PIK3CD, PIK3R11 condition→
- Agammaglobulinaemia (XLA and Autosomal Forms)BLNK, BTK, CD79A, CD79B, IGHM, IGLL1 +44 conditions→
- Ataxia-TelangiectasiaATM1 condition→
- Autoimmune DiseaseAIRE, ATP2C1, C1QA, CASP10, CASP8, CBLB +157 conditions→
- Autoimmune Lymphoproliferative Syndrome (ALPS)CASP10, CASP8, CTLA4, FAS, FASLG, KRAS +11 condition→
- Chediak-Higashi syndromeLYST1 condition→
- Chronic Granulomatous DiseaseCYBA, CYBB, CYBC1, NCF1, NCF2, NCF49 conditions→
- Chronic Mucocutaneous CandidiasisCARD9, IL17RA, IL17RC, STAT1, TRAF3IP22 conditions→
- Common Variable Immunodeficiency (Monogenic CVID)CD19, CR2, ICOS, IKZF1, IRF2BP2, LRBA +41 condition→
- Deficiency of Adenosine Deaminase 2 (DADA2)ADA21 condition→
- EBV-Driven Lymphoproliferation and CARD11 Immune DysregulationCARD11, CD27, IKZF23 conditions→
- Familial Hemophagocytic LymphohistiocytosisPRF1, STX11, STXBP2, UNC13D4 conditions→
- Familial Isolated Congenital AspleniaRPSA1 condition→
- Familial Mediterranean FeverMEFV1 condition→
- Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI)SP1101 condition→
- Hereditary AngioedemaF12, PLG, SERPING12 conditions→
- Hereditary Periodic Fever SyndromesMVK, NLRC4, NLRP12, NLRP3, PLCG2, TNFRSF1A3 conditions→
- Hyper-IgE SyndromeDOCK8, IL6R, IL6ST, SPINK5, STAT3, STAT6 +11 condition→
- Hyper-IgM SyndromesAICDA, CD40, CD40LG, UNG1 condition→
- IPEX Syndrome and Other TregopathiesBACH2, CTLA4, DEF6, FOXP3, IL2RA, IL2RB +17 conditions→
- ITCH DeficiencyITCH1 condition→
- Immuno-Osseous DysplasiasRMRP, RNU4ATAC, SMARCAL12 conditions→
- Inherited Complement and Properdin DeficienciesC1QA, C1QB, C1QC, C1S, C2, C3 +116 conditions→
- JAK1-Related Autoinflammation, Immune Dysregulation and EosinophiliaJAK11 condition→
- Leukocyte Adhesion DeficiencyFERMT3, ITGB2, SLC35C11 condition→
- MTHFD1 DeficiencyMTHFD11 condition→
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)IFNGR1, IFNGR2, IL12B, IL12RB1, IL23R, IRF8 +45 conditions→
- Other Inborn Errors of ImmunityADA, ADAR, AICDA, AK2, AP3B1, ARPC1B +2092 conditions→
- Otofaciocervical Syndrome Type 2 (PAX1)PAX11 condition→
- PIK3R1-Related DisordersPIK3R12 conditions→
- Purine Nucleoside Phosphorylase DeficiencyPNP1 condition→
- Rare Monogenic Autoinflammatory DiseasesACP5, ADA2, ADAR, COPA, DOCK11, ELF4 +2813 conditions→
- SH2B3-Related Immune DysregulationSH2B31 condition→
- STAT1 and STAT3 Gain-of-Function DiseaseSTAT1, STAT32 conditions→
- Severe Combined ImmunodeficiencyADA, AK2, BCL11B, CARD11, CARMIL2, CD247 +262 conditions→
- Sjogren Syndrome1 condition→
- Systemic Lupus ErythematosusC1QA, DNASE1L3, PRKCD, SAT1, TREX1, UNC93B11 condition→
- Type I InterferonopathiesACP5, COPA, IFIH1, POLA1, POMP, PSMB10 +610 conditions→
- WHIM SyndromeCXCR2, CXCR41 condition→
- Wiskott-Aldrich Syndrome SpectrumWAS, WIPF13 conditions→
- X-Linked Lymphoproliferative Disease and XMENMAGT1, SH2D1A, XIAP2 conditions→
- X-linked Autoinflammatory DiseaseIKBKG1 condition→
Metabolic
Conditions impacting the body's chemical processes for converting food into energy, building tissues, and eliminating waste.
Condition reports in this category (99)
- 2-Aminoadipic 2-Oxoadipic AciduriaDHTKD11 condition→
- 2-Methylbutyryl-CoA Dehydrogenase DeficiencyACADSB1 condition→
- 3-Methylglutaconic Aciduria Type 1AUH1 condition→
- 3-Methylglutaconic Aciduria Type 8 (HTRA2)HTRA21 condition→
- 3-Methylglutaconic Aciduria Type 9 (TIMM50)TIMM501 condition→
- ACBD5 DeficiencyACBD51 condition→
- Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Types A and B)SMPD13 conditions→
- AlkaptonuriaHGD1 condition→
- Alpha-Mannosidosis and Other GlycoproteinosesAGA, CTSA, FUCA1, MAN2B1, MANBA, NAGA +17 conditions→
- Aminoacylase 1 DeficiencyACY11 condition→
- BCAT2 Deficiency (Hypervalinaemia and Hyperleucine-Isoleucinaemia)BCAT21 condition→
- BCKDK DeficiencyBCKDK1 condition→
- BH4 Deficiency & Monoamine Neurotransmitter DisordersDBH, DDC, DNAJC12, GCH1, MAOA, PCBD1 +54 conditions→
- Beta-ureidopropionase deficiencyUPB11 condition→
- Biotinidase & Holocarboxylase DeficiencyBTD, HLCS1 condition→
- Cerebral Creatine Deficiency SyndromesGAMT, GATM, SLC6A81 condition→
- CitrullinemiaASS1, SLC25A131 condition→
- Classic Organic AciduriasACAT1, GCDH, HMGCL, IVD, MCCC1, MCCC2 +16 conditions→
- Congenital AnalbuminaemiaALB1 condition→
- Congenital Disorders of GlycosylationA4GALT, ALG1, ALG11, ALG12, ALG13, ALG14 +9314 conditions→
- CystathioninuriaCTH1 condition→
- CystinosisCTNS1 condition→
- DCMA Syndrome (3-Methylglutaconic Aciduria Type 5)DNAJC191 condition→
- Danon DiseaseLAMP21 condition→
- DesmosterolosisDHCR241 condition→
- Diabetes MellitusABCC8, AKT2, APPL1, BSCL2, CEL, EIF2B1 +251 condition→
- Disorder of Copper MetabolismAP1S1, ATP7A, ATP7B1 condition→
- Disorders of Glycine & Serine MetabolismAMT, GCSH, GLDC, PHGDH, PSAT1, PSPH +22 conditions→
- ECHS1 DeficiencyECHS11 condition→
- FLAD1-Related Lipid Storage MyopathyFLAD11 condition→
- Fabry DiseaseGLA1 condition→
- Familial HypercholesterolemiaAPOB, LDLR, LDLRAP1, PCSK91 condition→
- Fatty Acid Oxidation & Carnitine Cycle DisordersACAD9, ACADM, ACADS, ACADVL, CPT1A, CPT2 +104 conditions→
- GM1 Gangliosidosis and Morquio B SyndromeGLB12 conditions→
- GPI Anchor Biosynthesis DefectsGPAA1, PGAP2, PGAP3, PIGA, PIGB, PIGC +146 conditions→
- GalactosemiaGALE, GALK1, GALM, GALT1 condition→
- Gaucher DiseaseGBA11 condition→
- Gilbert SyndromeABCC2, UGT1A13 conditions→
- Glutaminase DeficiencyGLS1 condition→
- Glutathione Synthetase DeficiencyGSS2 conditions→
- Glycerol Kinase DeficiencyGK1 condition→
- Glycogen Storage DiseaseAGL, ENO3, G6PC1, GBE1, GYS1, GYS2 +913 conditions→
- Glycogen Storage Disease IXdPHKA11 condition→
- HIBCH DeficiencyHIBCH1 condition→
- HSD10 Mitochondrial DiseaseHSD17B101 condition→
- Hartnup DiseaseSLC6A191 condition→
- HemochromatosisCYBRD1, HAMP, HFE, HJV, SLC40A1, TFR21 condition→
- Hepatic Porphyria DisordersALAD, ALAS2, CLPX, CPOX, FECH, HMBS +21 condition→
- Hereditary AmyloidosisAPOA1, APOA4, APP, B2M, CST3, FGA +61 condition→
- Hereditary Fructose Intolerance & Gluconeogenesis DefectsALDOB, FBP1, PCK13 conditions→
- Hereditary HypolipoproteinemiasABCA1, ANGPTL3, APOA1, APOB, LCAT, MTTP +12 conditions→
- Hermansky-Pudlak SyndromeAP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1 +51 condition→
- Homocystinuria & Cobalamin DisordersABCD4, AHCY, AMN, CBLIF, CBS, CD320 +145 conditions→
- Hypercalcemia InfantileCYP24A1, SLC34A11 condition→
- HyperlipidemiaABCG5, ABCG8, APOA5, APOB, APOC2, APOE +72 conditions→
- HyperlysinaemiaAASS1 condition→
- Hyperphosphataemic Familial Tumoral Calcinosis (GALNT3)GALNT31 condition→
- Hyperprolinaemia Type 1PRODH1 condition→
- Hyperprolinaemia Type 2ALDH4A11 condition→
- HypertriglyceridemiaAPOA5, CREB3L31 condition→
- HypophosphatasiaALPL1 condition→
- Isobutyryl-CoA Dehydrogenase DeficiencyACAD81 condition→
- LipodystrophyAGPAT2, AKT2, BSCL2, CAV1, CAVIN1, LIPE +69 conditions→
- Lysosomal Acid Lipase Deficiency (Wolman Disease and CESD)LIPA1 condition→
- Lysosomal Storage DiseaseABHD5, AGA, AP5Z1, ARSA, ARSB, ARSK +531 condition→
- MDPL SyndromePOLD11 condition→
- MEND SyndromeEBP1 condition→
- Maple Syrup Urine DiseaseBCKDHA, BCKDHB, DBT, DLD1 condition→
- McArdle's diseasePYGM1 condition→
- Methylmalonic & Propionic AcidemiaABCD4, ACSF3, CD320, HCFC1, LMBRD1, MCEE +82 conditions→
- Mucolipidoses (ML II, ML III and ML IV)GNPTAB, GNPTG, MCOLN13 conditions→
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)IDUA1 condition→
- Mucopolysaccharidosis Type II (Hunter Syndrome)IDS1 condition→
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)GNS, HGSNAT, NAGLU, SGSH1 condition→
- Mucopolysaccharidosis Type IVA (Morquio A Syndrome)GALNS1 condition→
- Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)ARSB1 condition→
- Mucopolysaccharidosis Type VII (Sly Syndrome)GUSB1 condition→
- Mucopolysaccharidosis-Plus SyndromeVPS33A1 condition→
- Myalgic Encephalomyelitis / Chronic Fatigue Syndrome1 condition→
- NGLY1 DeficiencyNGLY11 condition→
- Niemann-Pick Disease Type CNPC1, NPC21 condition→
- P5CS Deficiency (ALDH18A1-Related)ALDH18A11 condition→
- Peroxisomal Enzyme Disorders & Refsum DiseaseACOX1, AGPS, AMACR, GNPAT, HSD17B4, PHYH6 conditions→
- Phenylketonuria (PKU)PAH1 condition→
- Pompe DiseaseGAA1 condition→
- PorphyriaALAD, ALAS2, CLPX, CPOX, FECH, HMBS +31 condition→
- Primary HyperoxaluriaAGXT, GRHPR, HOGA12 conditions→
- Primary Mitochondrial DiseaseAARS2, ACAD9, AFG3L2, AGK, AIFM1, ATP5F1A +1319 conditions→
- Purine & Pyrimidine Metabolism DisordersADSL, APRT, DPYD, DPYS, HPRT1, MOCOS +27 conditions→
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyDLAT, DLD, LIAS, MPC1, PC, PDHA1 +33 conditions→
- Salla Disease and Free Sialic Acid Storage DiseaseSLC17A53 conditions→
- Sandhoff Disease and GM2 Activator DeficiencyGM2A, HEXB2 conditions→
- Succinic Semialdehyde Dehydrogenase DeficiencyALDH5A11 condition→
- Tay-Sachs DiseaseHEXA1 condition→
- TrimethylaminuriaFMO31 condition→
- TyrosinemiaFAH, HPD, TAT2 conditions→
- Urea Cycle DisorderARG1, ASL, ASS1, CA5A, CPS1, GLUD1 +62 conditions→
- Very Long Chain Acyl-Coa Dehydrogenase DeficiencyACADVL1 condition→
- Wilson DiseaseATP7B1 condition→
Musculoskeletal
Disorders involving the bones, joints, ligaments, tendons, and muscles, affecting movement and the body's structure.
Condition reports in this category (121)
- 3MC Syndrome 1 (MASP1)MASP11 condition→
- ACAN-Related Short StatureACAN1 condition→
- ACCES Syndrome (UBA2)UBA21 condition→
- Aarskog-Scott SyndromeFGD11 condition→
- Achondrogenesis panelCOL2A1, GDF5, SLC26A2, TRIP111 condition→
- Acromelic Frontonasal DysostosisZSWIM61 condition→
- Adams-Oliver SyndromeARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ2 conditions→
- Asphyxiating Thoracic Dystrophy 2 (IFT80)IFT801 condition→
- Auriculocondylar Syndrome 2 (PLCB4)PLCB41 condition→
- Bailey-Bloch Congenital MyopathySTAC31 condition→
- Bent Bone Dysplasia Syndrome (FGFR2)FGFR21 condition→
- CHRNG-Related Multiple Pterygium SyndromeCHRNG1 condition→
- Caffey DiseaseCOL1A11 condition→
- Campomelic DysplasiaSOX91 condition→
- Carey-Fineman-Ziter SyndromeMYMK, MYMX1 condition→
- Catel-Manzke SyndromeTGDS1 condition→
- Cenani-Lenz Syndactyly SyndromeLRP41 condition→
- CherubismSH3BP21 condition→
- Cleidocranial DysplasiaCBFB, RUNX22 conditions→
- Congenital Muscular DystrophiesB3GALNT2, B4GAT1, CHKB, COL12A1, COL6A1, COL6A2 +233 conditions→
- Congenital MyopathiesACTA1, BIN1, CFL2, DNM2, KBTBD13, KLHL40 +147 conditions→
- Cornelia de Lange SyndromeBRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC31 condition→
- Craniofrontonasal SyndromeEFNB11 condition→
- Curry-Jones Syndrome (Mosaic SMO Syndrome)SMO1 condition→
- Desbuquois Dysplasia 1CANT11 condition→
- Distal MyopathiesADSS1, ANO5, CRYAB, DNAJB4, DYSF, FLNC +136 conditions→
- Dyssegmental Dysplasia, Silverman-Handmaker TypeHSPG21 condition→
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)DMD2 conditions→
- Ehlers-Danlos SyndromeADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S +153 conditions→
- Elsahy-Waters SyndromeCDH111 condition→
- Enlarged Parietal Foramina (MSX2)ALX4, MSX21 condition→
- Epiphyseal and Spondyloepiphyseal DysplasiasCOL2A1, COL9A1, COL9A2, COL9A3, COMP, FN1 +312 conditions→
- FAM111A-Related Skeletal DysplasiaFAM111A1 condition→
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)FGFR31 condition→
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)FLNB, GZF11 condition→
- Facioscapulohumeral Muscular Dystrophy (FSHD)1 condition→
- Familial Paget Disease of BoneSQSTM1, TNFRSF11A, TNFRSF11B, ZNF6874 conditions→
- Feingold Syndrome Type 1MYCN1 condition→
- Floating-Harbor SyndromeSRCAP1 condition→
- Fontaine Progeroid SyndromeSLC25A24, SLC25A41 condition→
- Frank-Ter Haar SyndromeSH3PXD2B1 condition→
- Frontonasal Dysplasia with Alopecia and Genital Anomaly (ALX4)ALX41 condition→
- FrontorhinyALX31 condition→
- Ghosal Haematodiaphyseal DysplasiaTBXAS11 condition→
- Greig Cephalopolysyndactyly SyndromeGLI31 condition→
- HAAO-Related Congenital NAD DeficiencyHAAO1 condition→
- Hajdu-Cheney SyndromeNOTCH21 condition→
- Hand-Foot-Genital SyndromeHOXA131 condition→
- Hereditary FibromatosesANTXR2, PDGFRB2 conditions→
- Hereditary Multiple OsteochondromasEXT1, EXT21 condition→
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, PHEX +22 conditions→
- INTU-Related Skeletal CiliopathyINTU1 condition→
- Inherited ArthropathiesANKH, PRG42 conditions→
- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)DYNC2H11 condition→
- KYNU-Related Congenital NAD DeficiencyKYNU1 condition→
- Kabuki SyndromeKDM6A, KMT2D1 condition→
- Keutel SyndromeMGP1 condition→
- Klippel-Feil Anomaly with Myopathy (MYO18B)MYO18B1 condition→
- LPIN1-Related Recurrent RhabdomyolysisLPIN11 condition→
- Lethal Congenital Contracture Syndrome 11 (GLDN)GLDN1 condition→
- Limb-Girdle Muscular DystrophyANO5, CAPN3, CAV3, COL6A1, COL6A2, COL6A3 +283 conditions→
- MEGF10-Related MyopathyMEGF101 condition→
- MTX2-Related Mandibuloacral DysplasiaMTX21 condition→
- MYH2-Related MyopathyMYH21 condition→
- Mandibulofacial Dysostosis with MicrocephalyEFTUD21 condition→
- Marfan Like SyndromesBGN, FBN1, FBN2, SKI, SMAD2, SMAD3 +46 conditions→
- Marshall-Smith SyndromeNFIX1 condition→
- Meier-Gorlin Syndrome 3 (ORC6)ORC61 condition→
- Meier-Gorlin Syndrome 4CDT11 condition→
- Meier-Gorlin Syndrome 7 (CDC45)CDC451 condition→
- Microcephalic Osteodysplastic Primordial Dwarfism Type IIPCNT1 condition→
- Miller Syndrome (Postaxial Acrofacial Dysostosis)DHODH1 condition→
- Monogenic Early-Onset OsteoporosisCOPB2, PLS3, WNT14 conditions→
- Mulibrey NanismTRIM371 condition→
- Multiple Synostoses Syndrome (FGF9)FGF9, GDF5, GDF6, NOG1 condition→
- Myofibrillar MyopathiesBAG3, CRYAB, DES, FLNC, HSPB8, KY +71 condition→
- NADSYN1-Related Congenital NAD Deficiency (VCRL Syndrome 3)NADSYN11 condition→
- NOG-Related Symphalangism Spectrum DisorderNOG1 condition→
- Nail-Patella SyndromeLMX1B1 condition→
- OpsismodysplasiaINPPL11 condition→
- Osteoarthritis1 condition→
- Osteogenesis ImperfectaANO5, ATP6V0A2, BMP1, COL1A1, COL1A2, CREB3L1 +282 conditions→
- OsteopetrosisAMER1, CA2, CLCN7, CTSK, FERMT3, LRP5 +81 condition→
- Otospondylomegaepiphyseal Dysplasia (OSMED)COL11A2, COL2A11 condition→
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)DNMT3A, EZH2, NFIX, NSD14 conditions→
- Polyglucosan Body Myopathy 1 (RBCK1)RBCK11 condition→
- Polyglucosan Body Myopathy 2 (GYG1)GYG11 condition→
- Progressive Pseudorheumatoid DysplasiaCCN61 condition→
- RNU4ATAC Spectrum DisorderRNU4ATAC1 condition→
- Raine SyndromeFAM20C1 condition→
- Rheumatoid Arthritis1 condition→
- Roberts SyndromeESCO21 condition→
- SCN4A-Related Congenital MyopathySCN4A1 condition→
- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)SF3B41 condition→
- SHOX Deficiency (Leri-Weill and Langer Dysplasia)SHOX2 conditions→
- SLC10A7-Related Skeletal Dysplasia With Amelogenesis ImperfectaSLC10A71 condition→
- SMAD6-Related DisorderSMAD61 condition→
- Saul-Wilson SyndromeCOG41 condition→
- Schmid Metaphyseal ChondrodysplasiaCOL10A11 condition→
- Schwartz-Jampel Syndrome Type 1HSPG21 condition→
- Sclerosing Bone Dysplasias (High Bone Mass)LRP5, MTAP, SFRP4, SOST, TGFB15 conditions→
- Short-Rib Thoracic Dysplasia 11 (DYNC2I2)DYNC2I21 condition→
- Short-Rib Thoracic Dysplasia 7 (WDR35)WDR351 condition→
- Short-Rib Thoracic Dysplasia 8 (DYNC2I1)DYNC2I11 condition→
- Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification TypeDDR21 condition→
- Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 3EXOC6B1 condition→
- Spondyloepimetaphyseal Dysplasia, Genevieve TypeNANS1 condition→
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsCHST31 condition→
- Spondyloepiphyseal Dysplasia, Kondo-Fu TypeMBTPS11 condition→
- Spondylometaphyseal Dysplasia With Cone-Rod DystrophyPCYT1A1 condition→
- Stüve-Wiedemann SyndromeLIFR1 condition→
- Syndromic CraniosynostosisCYP26B1, ERF, FGFR1, FGFR2, FGFR3, IFT122 +171 condition→
- TARP SyndromeRBM101 condition→
- TOR1AIP1-Related Multisystem DisorderTOR1AIP11 condition→
- TOR1AIP1-Related MyopathyTOR1AIP11 condition→
- TRIP11-Related Skeletal DysplasiaMIA3, TRIP111 condition→
- TRPV4-Related Skeletal DysplasiasTRPV41 condition→
- Tubular Aggregate MyopathyORAI1, STIM11 condition→
- Ulnar-Mammary SyndromeTBX31 condition→
- X-Linked Chondrodysplasia Punctata 1ARSL1 condition→
- ZIC1-Related CraniosynostosisZIC11 condition→
Neurological
Conditions affecting the brain, spinal cord, and the network of nerves that control the body.
Condition reports in this category (183)
- ADCY5-Related DyskinesiaADCY51 condition→
- ARFGEF1-Related Neurodevelopmental DisorderARFGEF11 condition→
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaATP1A21 condition→
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)CSF1R, LMNB1, TREM2, TYROBP3 conditions→
- Aicardi-Goutieres SyndromeADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, RNU7-1 +28 conditions→
- Alacrima, Achalasia and Intellectual Disability Syndrome (GMPPA)GMPPA1 condition→
- Alexander DiseaseGFAP1 condition→
- Alkuraya-Kucinskas SyndromeBLTP11 condition→
- Alzahrani-Kuwahara SyndromeSMG81 condition→
- Alzheimer's diseaseAPOE, APP, PSEN1, PSEN2, TREM21 condition→
- Amyotrophic Lateral Sclerosis (ALS)ALS2, ANG, ANXA11, C9orf72, CCNF, CHCHD10 +231 condition→
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)NEK11 condition→
- Angelman SyndromeUBE3A1 condition→
- Asparagine Synthetase DeficiencyASNS1 condition→
- Au-Kline SyndromeHNRNPK1 condition→
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)AFG3L2, ATN1, ATP1A3, ATXN1, ATXN10, ATXN2 +301 condition→
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)AHI1, ANO10, ATCAY, ATG7, ATP8A2, CA8 +511 condition→
- Autosomal Recessive Primary MicrocephalyANKLE2, ASPM, CDK5RAP2, CEP135, CEP152, CIT +114 conditions→
- BRAT1-Related Neurodevelopmental Disorder with Cerebellar AtrophyBRAT11 condition→
- Basal Ganglia CalcificationJAM2, MYORG, NAA60, PDGFB, PDGFRB, SLC20A2 +14 conditions→
- Basilicata-Akhtar SyndromeMSL31 condition→
- Beaulieu-Boycott-Innes Syndrome (THOC6)THOC61 condition→
- Beck-Fahrner SyndromeTET31 condition→
- Brain Abnormalities, Neurodegeneration and Dysosteosclerosis (BANDDOS)CSF1R1 condition→
- Bryant-Li-Bhoj Neurodevelopmental Syndrome (H3-3A)H3-3A1 condition→
- CDH2-Related ACOGSCDH21 condition→
- CEBALID Syndrome (MN1)MN11 condition→
- CLCN7-Related Hypopigmentation, Organomegaly and Delayed Myelination (HOD)CLCN71 condition→
- COL4A1-Related DisorderCOL4A11 condition→
- CTNNB1 SyndromeCTNNB11 condition→
- CYP7B1-Related Spastic Paraplegia and Liver DiseaseCYP7B11 condition→
- Canavan DiseaseASPA1 condition→
- Cerebral Amyloid AngiopathyAPP, CST3, ITM2B1 condition→
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyHTRA1, NOTCH31 condition→
- Cerebral Cavernous MalformationCCM2, KRIT1, MAP3K3, PDCD105 conditions→
- Cerebrotendinous XanthomatosisCYP27A11 condition→
- Charcot-Marie-Tooth DiseaseAARS1, AIFM1, ATP1A1, ATP7A, BSCL2, CADM3 +722 conditions→
- Christianson SyndromeSLC9A61 condition→
- Chung-Jansen Syndrome (PHIP)PHIP1 condition→
- Coffin-Siris SyndromeARID1A, ARID1B, ARID2, BICRA, DPF2, SMARCA4 +61 condition→
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaADGRG1, APC2, CAMSAP1, CTNNA2, DYNC1H1, KIF26A +92 conditions→
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)MYH10, RERE, SOX11, TRRAP2 conditions→
- Complex Neurodevelopmental Disorder With Motor FeaturesADD3, CACNA1A, CACNA1B, ELP2, EMC1, KMT2B +31 condition→
- Congenital Myasthenic SyndromeAGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1 +216 conditions→
- DCC-Related Mirror Movements and Agenesis of the Corpus CallosumDCC1 condition→
- DHX30-Related Neurodevelopmental DisorderDHX301 condition→
- DIAPH1-Related Microcephaly, Seizures and Cortical BlindnessDIAPH11 condition→
- DLL1-Related Neurodevelopmental DisorderDLL11 condition→
- DNMT1-Related Ataxia, Deafness and Narcolepsy (ADCA-DN)DNMT11 condition→
- DOORS SyndromeATP6V1B2, TBC1D241 condition→
- DPH1-Related Developmental Delay with Short StatureDPH11 condition→
- DeSanto-Shinawi SyndromeWAC1 condition→
- Dias-Logan SyndromeBCL11A1 condition→
- Dopamine Transporter Deficiency SyndromeSLC6A31 condition→
- Dravet SyndromeSCN1A1 condition→
- Dystonia, Myotonia, Paroxysmal DyskinesiaACTB, ANO3, ARFGEF3, ATP1A3, BCAP31, CLCN1 +3021 conditions→
- EBF3-Related Neurodevelopmental Disorder (HADDS)EBF31 condition→
- EML1-Related Band HeterotopiaEML11 condition→
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectDNM1L, MFF1 condition→
- Epilepsy (Full Panel)AARS1, ABAT, ACTL6B, ADAM22, ALDH7A1, ALG13 +1865 conditions→
- FAT4-Related Neurodevelopmental DisorderFAT41 condition→
- FDXR-Related Mitochondrial DisorderFDXR1 condition→
- FOXP2-Related Speech and Language DisorderFOXP21 condition→
- Familial Hemiplegic MigraineATP1A2, CACNA1A, SCN1A8 conditions→
- Familial Periodic ParalysisCACNA1S, KCNJ2, SCN4A1 condition→
- Fowler SyndromeFLVCR21 condition→
- Fragile X SyndromeFMR12 conditions→
- Friedreich AtaxiaFXN1 condition→
- Frontotemporal DementiaC9orf72, CCNF, CHCHD10, CHMP2B, CYLD, GRN +72 conditions→
- GEMIN5-Related Neurodevelopmental DisorderGEMIN51 condition→
- GRIA2-Related Neurodevelopmental DisorderGRIA21 condition→
- GTP Cyclohydrolase 1 DeficiencyGCH11 condition→
- Genetic Prion Disease (incl. Fatal Familial Insomnia)PRNP5 conditions→
- HPCA-Related DystoniaHPCA1 condition→
- Hao-Fountain SyndromeUSP71 condition→
- Hereditary Episodic AtaxiasCACNA1A, KCNA1, SCN2A, SLC1A31 condition→
- Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)PMP221 condition→
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)AIFM1, ATL1, ATL3, CLCF1, CRLF1, DNMT1 +151 condition→
- Hereditary Spastic ParaplegiaABCD1, ABHD16A, ALDH18A1, AMFR, AP4B1, AP4E1 +6020 conditions→
- Huntington DiseaseHTT1 condition→
- Hyperekplexia 3 (SLC6A5)SLC6A51 condition→
- Inherited Neurodegenerative DisordersAARS1, AARS2, ABCB7, ABCD1, ABHD16A, ACER3 +3668 conditions→
- Intracranial Berry AneurysmTHSD11 condition→
- JARID2-Related Neurodevelopmental DisorderJARID21 condition→
- Jaberi-Elahi SyndromeGTPBP21 condition→
- Joubert Syndrome And Related DisordersAHI1, ARL13B, ARL3, ARMC9, B9D1, B9D2 +312 conditions→
- KAT6B-Related DisordersKAT6B1 condition→
- KCNH1-Related DisorderKCNH11 condition→
- KCNQ2-Related Neonatal Encephalopathy with Non-Epileptic MyoclonusKCNQ21 condition→
- KDM1A-Related Neurodevelopmental DisorderKDM1A1 condition→
- KIDINS220-Related Ventriculomegaly and ArthrogryposisKIDINS2201 condition→
- KIF5A-Related Amyotrophic Lateral SclerosisKIF5A1 condition→
- Kaufman Oculocerebrofacial SyndromeUBE3B1 condition→
- Kaya-Barakat-Masson SyndromeYIF1B1 condition→
- Kohlschütter-Tönz SyndromeROGDI1 condition→
- Krabbe DiseaseGALC1 condition→
- L1 SyndromeL1CAM1 condition→
- Lamb-Shaffer SyndromeSOX51 condition→
- Leigh SyndromeAIFM1, ATP5MK, BTD, COX10, DLAT, DLD +631 condition→
- Lessel-Kreienkamp SyndromeAGO21 condition→
- Lissencephaly Spectrum DisordersACTB, ACTG1, APC2, ARX, CDK5, CEP85L +175 conditions→
- MAPK8IP3-Related Neurodevelopmental DisorderMAPK8IP31 condition→
- MCM3AP-Related Peripheral NeuropathyMCM3AP1 condition→
- MCPH1-Related Primary MicrocephalyMCPH11 condition→
- MED27-Related Neurodevelopmental DisorderMED271 condition→
- MTOR Pathway Megalencephaly and Overgrowth DisordersAKT3, CCND2, MTOR, PIK3CA, PIK3R22 conditions→
- Meckel SyndromeB9D1, B9D2, KIF14, MKS1, RPGRIP1L, TCTN2 +41 condition→
- Megalencephalic Leukoencephalopathy with Subcortical CystsGPRC5B, HEPACAM, MLC11 condition→
- Metachromatic LeukodystrophyARSA, PSAP1 condition→
- Microcephaly and Chorioretinopathy 1 (TUBGCP6)TUBGCP61 condition→
- Mitchell SyndromeACOX11 condition→
- Mowat-Wilson SyndromeZEB21 condition→
- Multiple Sclerosis1 condition→
- Myotonic DystrophyCNBP, DMPK1 condition→
- NDE1-Related MicrolissencephalyNDE11 condition→
- NFIA-Related Brain MalformationsNFIA1 condition→
- NRROS-Related Early-Onset Seizures with NeurodegenerationNRROS1 condition→
- Neuroacanthocytosis and Huntington Disease PhenocopiesJPH3, VPS13A, XK2 conditions→
- Neurodegeneration with Brain Iron Accumulation (NBIA)ATP13A2, C19orf12, COASY, CP, DCAF17, FTH1 +41 condition→
- NeurofibromatosisLZTR1, NF1, NF2, SMARCB11 condition→
- Neuronal Ceroid LipofuscinosisATP13A2, CLCN6, CLN3, CLN5, CLN6, CLN8 +83 conditions→
- Neurooculocardiogenitourinary Syndrome (WDR37)WDR371 condition→
- Nizon-Isidor SyndromeMED12L1 condition→
- Orofaciodigital Syndrome Type 14C2CD31 condition→
- Other Inherited LeukodystrophiesAARS1, AARS2, ABCD1, ACER3, ADAR, AIMP1 +741 condition→
- PIP5K1C-Related Neurodevelopmental DisorderPIP5K1C1 condition→
- PNPLA6-Related Ataxia, Retinal Dystrophy and HypogonadismPNPLA61 condition→
- POLR1C-Related DisorderPOLR1C1 condition→
- POLR2A-Related Neurodevelopmental DisorderPOLR2A1 condition→
- POLR3A-Related DisorderPOLR3A1 condition→
- POLR3B-Related DisorderPOLR3B1 condition→
- PPP1R21-Related Neurodevelopmental DisorderPPP1R211 condition→
- PRR12-Related Neuroocular SyndromeDAGLA, PRR121 condition→
- Parkinson DiseaseATP13A2, CHCHD2, DNAJC6, FBXO7, GBA1, LRRK2 +92 conditions→
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesAIMP1, AIMP2, ATP11A, CLDN11, DARS1, DEGS1 +1920 conditions→
- Periventricular Nodular HeterotopiaARF1, ARFGEF2, FLNA, MAP1B, NEDD4L3 conditions→
- Poirier-Bienvenu Neurodevelopmental SyndromeCSNK2B1 condition→
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)AMPD2, CHMP1A, CLP1, COASY, EXOSC3, EXOSC8 +151 condition→
- Primary Microcephaly 26 (LMNB1)LMNB11 condition→
- Primrose SyndromeZBTB201 condition→
- RTTN-Related Microcephalic Primordial DwarfismRTTN1 condition→
- Radio-Tartaglia SyndromeSPEN1 condition→
- Rare Hereditary Peripheral NeuropathiesAARS1, ABHD12, AIFM1, APOA1, ARSA, ATL1 +2275 conditions→
- Rett Syndrome and MECP2-Related DisordersMECP23 conditions→
- Riboflavin Transporter DeficiencySLC52A2, SLC52A31 condition→
- SMARCC1-Associated Developmental Dysgenesis SyndromeSMARCC11 condition→
- SPOP-Related Neurodevelopmental Disorder with MacrocephalySPOP1 condition→
- SPTBN1-Related Neurodevelopmental DisorderSPTBN11 condition→
- SPTBN4-Related Neurodevelopmental DisorderSPTBN41 condition→
- SYNCRIP-Related Neurodevelopmental DisorderSYNCRIP1 condition→
- Sandestig-Stefanova SyndromeNUP1881 condition→
- Siddiqi SyndromeFITM21 condition→
- Skraban-Deardorff SyndromeWDR261 condition→
- Snijders Blok-Campeau SyndromeCHD31 condition→
- Spinal Muscular AtrophyASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1 +221 condition→
- Spinal and Bulbar Muscular Atrophy (Kennedy Disease)AR1 condition→
- Stankiewicz-Isidor SyndromePSMD121 condition→
- Syndromic Complex Neurodevelopmental DisorderAFG2A, ANKRD17, AP1S2, ASH1L, BRPF1, MYT1L +172 conditions→
- TANC2-Related Neurodevelopmental DisorderTANC21 condition→
- TCF20-Related Neurodevelopmental DisorderTCF201 condition→
- TMEM94-Related Intellectual Disability with Heart DefectsTMEM941 condition→
- TNR-Related Neurodevelopmental Disorder with SpasticityTNR1 condition→
- TRAPPC4-Related Neurodevelopmental DisorderTRAPPC41 condition→
- TRAPPC6B-Related Neurodevelopmental DisorderTRAPPC6B1 condition→
- TRAPPC9-Related Intellectual DisabilityTRAPPC91 condition→
- TRIM8-Related Neurodevelopmental and Kidney DisorderTRIM81 condition→
- Tuberous SclerosisTSC1, TSC21 condition→
- TubulinopathiesTUBA1A, TUBB, TUBB2A, TUBB32 conditions→
- Turnpenny-Fry SyndromePCGF21 condition→
- UBTF-Related NeuroregressionUBTF1 condition→
- UNC13A-Related Neurodevelopmental DisordersUNC13A2 conditions→
- VARS1-Related Neurodevelopmental DisorderVARS11 condition→
- VPS11-Related LeukodystrophyVPS111 condition→
- Vanishing White Matter DiseaseAARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B51 condition→
- Vascular Dementia Panel1 condition→
- Vici SyndromeEPG51 condition→
- Waardenburg SyndromeEDN3, EDNRB, KITLG, MITF, PAX3, SNAI2 +12 conditions→
- Warsaw Breakage SyndromeDDX111 condition→
- Wiedemann-Steiner SyndromeKMT2A1 condition→
- X-Linked Adrenoleukodystrophy (ABCD1)ABCD11 condition→
- You-Hoover-Fong Syndrome (TELO2)TELO21 condition→
- ZTTK SyndromeSON1 condition→
- Zellweger Spectrum & Peroxisome Biogenesis DisordersPEX1, PEX10, PEX11B, PEX12, PEX13, PEX14 +81 condition→
Nutrition
Issues related to diet, dietary intake, and the body's ability to absorb and utilize nutrients.
Condition reports in this category (6)
- Acrodermatitis EnteropathicaSLC30A2, SLC39A42 conditions→
- Glucose-Galactose MalabsorptionSLC5A11 condition→
- Hereditary Folate MalabsorptionSLC46A11 condition→
- Hereditary Manganese Transporter DisordersSLC30A10, SLC39A141 condition→
- Lactase Non-Persistence (Adult-Type Lactose Intolerance)1 condition→
- Thiamine Transporter and Metabolism DisordersSLC19A2, SLC19A3, SLC25A19, TPK11 condition→
Ophthalmological
Conditions affecting the eyes, vision, and related structures.
Condition reports in this category (51)
- ADAM9-Related Cone-Rod DystrophyADAM91 condition→
- AchromatopsiaATF6, CNGA3, CNGB3, GNAT2, OPN1LW, OPN1MW +26 conditions→
- Age-Related Macular DegenerationCFH, MFSD82 conditions→
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaCPAMD8, ELP4, FOXC1, FOXE3, ITPR1, PAX6 +33 conditions→
- BMP4-Related Microphthalmia and AnophthalmiaBMP41 condition→
- CACNA2D4-Related RetinopathyCACNA2D41 condition→
- CEP290-Related CiliopathyCEP2901 condition→
- CWC27-Related Retinitis Pigmentosa with Skeletal AnomaliesCWC271 condition→
- ChoroideremiaCHM1 condition→
- Colour Vision DeficiencyOPN1LW, OPN1MW, OPN1SW4 conditions→
- Cone-Rod Dystrophy 20 (POC1B)POC1B1 condition→
- Cone-Rod Dystrophy and Hearing Loss 2 (CEP250)CEP2501 condition→
- Congenital Cranial Dysinnervation DisordersCHN1, COL25A1, KIF21A, MAFB, PHOX2A, TUBA1A +12 conditions→
- Congenital Stationary Night BlindnessCABP4, CACNA1F, GNAT1, GNB3, GPR179, GRK1 +132 conditions→
- FHONDA SyndromeSLC38A81 condition→
- Fraser SyndromeFRAS1, FREM2, GRIP12 conditions→
- Frontonasal Dysplasia 3 (ALX1)ALX11 condition→
- GPR143-Related Foveal Hypoplasia (Ocular Albinism Type 1)GPR1431 condition→
- GUCY2D-Related Dominant Cone-Rod DystrophyGUCY2D1 condition→
- GUCY2D-Related Recessive RetinopathyGUCY2D1 condition→
- GlaucomaCYP1B1, EFEMP1, FOXC1, LTBP2, MYOC, OPTN +21 condition→
- Gyrate Atrophy of the Choroid and RetinaOAT1 condition→
- Hereditary Congenital & Juvenile CataractBFSP1, CHMP4B, CRYAB, CRYBA1, CRYBA2, CRYBA4 +172 conditions→
- Hereditary Corneal DystrophiesCHST6, COL17A1, COL8A2, DCN, GRHL2, GSN +131 condition→
- Hereditary Macular DystrophiesBEST1, CYP4V2, EFEMP1, PRDM13, PRPH2, RDH5 +48 conditions→
- Hereditary Optic NeuropathyACO2, AFG3L2, ATP1A3, DNM1L, MT-ND1, MT-ND4 +71 condition→
- Horizontal Gaze Palsy with Progressive ScoliosisROBO31 condition→
- IFT140-Related CiliopathyIFT1401 condition→
- IMPG1-Related Dominant RetinopathyIMPG11 condition→
- IMPG1-Related RetinopathyIMPG11 condition→
- Jalili SyndromeCNNM41 condition→
- Leber Congenital Amaurosis & RPE65-Related RetinopathyAIPL1, CCT2, CEP290, CRB1, CRX, GUCY2D +153 conditions→
- Microcornea-Myopic Chorioretinal AtrophyADAMTS181 condition→
- Microphthalmia, Anophthalmia & ColobomaALDH1A3, BCOR, BMP4, COX7B, ERCC1, ERCC2 +222 conditions→
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyGPHN, MOCS1, MOCS2, SUOX2 conditions→
- Nance-Horan SyndromeNHS1 condition→
- OPA1-Related Optic AtrophyOPA11 condition→
- OPTN-Related Normal-Tension GlaucomaOPTN1 condition→
- Oculocutaneous AlbinismDCT, GPR143, LRMDA, OCA2, SLC24A5, SLC45A2 +22 conditions→
- PROM1-Related Recessive RetinopathyPROM11 condition→
- RAB28-Related Cone-Rod DystrophyRAB281 condition→
- RDH12-Related Early-Onset Retinal DystrophyRDH121 condition→
- RDH5-Related Retinopathy (Fundus Albipunctatus)PRPH2, RDH5, RLBP11 condition→
- ROSAH SyndromeALPK11 condition→
- Retinal Dystrophy Due to Retinol Transport Defect (RBP4)RBP41 condition→
- Retinitis PigmentosaABCA4, AGBL5, AHR, ARHGEF18, ARL2BP, ARL3 +7426 conditions→
- Smith-Lemli-Opitz SyndromeDHCR71 condition→
- Stargardt DiseaseABCA4, ELOVL4, PROM14 conditions→
- TTLL5-Related RetinopathyTTLL51 condition→
- TUBB4B-Related CiliopathyTUBB4B1 condition→
- VitreoretinopathyATOH7, BEST1, CAPN5, COL11A1, COL18A1, COL2A1 +219 conditions→
Oral
A broader category than dental, including conditions of the entire mouth, such as the tongue, salivary glands, and inner lining (mucosa).
Condition reports in this category (9)
- Amelogenesis ImperfectaACP4, AMBN, AMELX, DLX3, ENAM, FAM20A +111 condition→
- Blepharocheilodontic Syndrome 2 (CTNND1)CTNND11 condition→
- Dentinogenesis ImperfectaDSPP, SMOC22 conditions→
- Hereditary Gingival FibromatosisREST, SOS11 condition→
- Hereditary Orofacial CleftingARHGAP29, BMP4, GRHL3, IRF6, MSX1, TBX226 conditions→
- Hypodontia and AnodontiaEDA, LRP6, MSX1, PAX9, TSPEAR, WNT10A +12 conditions→
- OFD1-Related CiliopathyOFD11 condition→
- Primary Failure of Tooth EruptionPTH1R1 condition→
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)GRHL3, IRF6, RIPK41 condition→
Other
Miscellaneous conditions that do not fit into other classifications.
Condition reports in this category (8)
- 22q11.2 Deletion SyndromeTBX11 condition→
- Bardet-Biedl and Alström SyndromesALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12 +172 conditions→
- CHARGE SyndromeCHD71 condition→
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannCDKN1C, H19, HMGA2, IGF2, MAGEL2, NLRP5 +33 conditions→
- LAMA5-Related Multisystemic SyndromeLAMA51 condition→
- Simpson-Golabi-Behmel SyndromeGPC31 condition→
- Werner SyndromeWRN1 condition→
- X-Linked Opitz G/BBB SyndromeMID11 condition→
Otolaryngological
Conditions related to the ear, nose, and throat.
Condition reports in this category (11)
- Björnstad SyndromeBCS1L1 condition→
- Branchio-Oto-Renal Spectrum DisorderEYA1, SIX1, SIX51 condition→
- Burn-McKeown SyndromeTXNL4A1 condition→
- Chudley-McCullough SyndromeGPSM21 condition→
- Deafness-Dystonia-Optic Neuronopathy SyndromeTIMM8A1 condition→
- Hearing Loss and DeafnessACTG1, AFG2B, AIFM1, ATP11A, ATP2B2, CABP2 +915 conditions→
- High Myopia with Sensorineural DeafnessSLITRK61 condition→
- Johanson-Blizzard SyndromeUBR11 condition→
- Labyrinthine Aplasia, Microtia and Microdontia (LAMM)FGF31 condition→
- Treacher Collins SyndromePOLR1B, POLR1C, POLR1D, TCOF11 condition→
- Usher SyndromeADGRV1, ARSG, CDH23, CLRN1, HARS1, MYO7A +51 condition→
Psychiatric
Disorders affecting mental health, mood, behaviour, and emotional well-being.
Condition reports in this category (4)
Respiratory
Conditions involving the lungs, airways (trachea, bronchi), and the mechanics of breathing.
Condition reports in this category (10)
- Alpha-1 Antitrypsin DeficiencySERPINA11 condition→
- Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsFOXF11 condition→
- Asthma1 condition→
- Congenital Central Hypoventilation SyndromePHOX2B1 condition→
- Congenital Diaphragmatic Hernia (Monogenic)ALDH1A2, PLS3, ZFPM21 condition→
- Cystic FibrosisCFTR1 condition→
- Familial Pulmonary FibrosisNAF1, PARN, POT1, RPA1, RTEL1, SFTPA1 +33 conditions→
- Primary Ciliary DyskinesiaCCDC39, CCDC40, CCNO, CENPF, CFAP20DC, CFAP221 +441 condition→
- Pulmonary Alveolar MicrolithiasisSLC34A21 condition→
- Surfactant Metabolism DysfunctionABCA3, CSF2RA, CSF2RB, MARS1, SFTPB, SFTPC2 conditions→
Sexual Health
Issues related to reproductive health, sexual function, and sexually transmitted infections (STIs).
Condition reports in this category (8)
- 46,XX Differences of Sex DevelopmentNR5A1, RSPO1, SOX3, SRY1 condition→
- 46,XY Differences of Sex Development and Gonadal DysgenesisAMH, AMHR2, AR, ATRX, CYP11A1, DHH +135 conditions→
- Androgen Insensitivity SyndromeAR1 condition→
- Female InfertilityANKRD31, ATM, BMP15, BNC1, BTG4, CDC20 +474 conditions→
- Hereditary HypospadiasMAMLD14 conditions→
- Male InfertilityACTL9, ARMC2, AURKC, BCORL1, CDC14A, CFAP251 +385 conditions→
- Müllerian Aplasia (MRKH Syndrome)TBX6, WNT41 condition→
- Sex Chromosome Aneuploidies5 conditions→
Sleep
Disorders that affect the quality, timing, and amount of sleep, impacting overall health.
Condition reports in this category (1)
Toxicology
Conditions resulting from exposure to poisons, toxins, drugs, or other harmful chemical substances.
Condition reports in this category (4)
Urological
Disorders related to the kidneys and prostate, their function, and the overall urinary system.
Condition reports in this category (25)
- Alport SyndromeCOL4A3, COL4A4, COL4A51 condition→
- Autosomal Dominant Tubulointerstitial Kidney DiseaseHNF1B, MUC1, REN, SEC61A1, UMOD2 conditions→
- Bartter DiseaseBSND, CLCNKB, KCNJ1, MAGED2, SLC12A16 conditions→
- CEP164-Related CiliopathyCEP1641 condition→
- Congenital Anomalies of the Kidney and Urinary TractDSTYK, EYA1, GFRA1, GREB1L, ITGA8, PAX2 +58 conditions→
- CystinuriaSLC3A1, SLC7A91 condition→
- Dent Disease and Lowe SyndromeCLCN5, OCRL2 conditions→
- Familial HypomagnesemiaATP1A1, CLDN10, CLDN16, CLDN19, CNNM2, FXYD2 +53 conditions→
- Fanconi Renotubular Syndrome and Renal GlucosuriaEHHADH, GATM, HNF4A, SLC5A22 conditions→
- Focal Segmental GlomerulosclerosisACTN4, ANLN, APOL1, CD2AP, CRB2, FAT1 +43 conditions→
- Gitelman SyndromeSLC12A31 condition→
- GlomerulosclerosisACTN4, ANLN, CRB2, FAT1, INF2, MYO1E +21 condition→
- Hemolytic Uremic Syndrome, Interstitial NephritisC3, CD46, CFB, CFH, CFHR5, CFI +322 conditions→
- KCNJ16-Related Hypokalaemic TubulopathyKCNJ161 condition→
- Kidney CancerBAP1, ELP4, FLCN, MET, PAX6, SDHB +31 condition→
- NEK8-Related Renal-Hepatic-Pancreatic DysplasiaNEK81 condition→
- Nephrogenic Diabetes InsipidusAQP2, AVPR22 conditions→
- Nephronophthisis and Senior-Løken SyndromeADAMTS9, ANKS6, CEP164, CEP83, DCDC2, GLIS2 +142 conditions→
- Nephrotic SyndromeACTN4, ARHGDIA, COQ6, COQ8B, DAAM2, DGKE +231 condition→
- PBX1-Related Kidney and Urinary Tract AnomaliesPBX11 condition→
- Polycystic Kidney DiseaseALG5, ALG8, ALG9, DNAJB11, DZIP1L, GANAB +51 condition→
- Renal HypouricemiaSLC22A12, SLC2A91 condition→
- Renal Tubular AcidosisATP6V0A4, ATP6V1B1, FOXI1, SLC4A1, SLC4A3, SLC4A42 conditions→
- Renal Tubular DysgenesisACE, AGT, AGTR1, REN1 condition→
- Urinary and Renal System TumourBAP1, ELP4, FLCN, MET, PAX6, RET +61 condition→
Brain & nervous system
Genetic predisposition to neurological conditions such as dementia and migraine.
Risk scores in this category (2)
Cancer
Diseases characterized by the uncontrolled growth and spread of abnormal cells; also known as oncological conditions.
Risk scores in this category (7)
Digestive health
Genetic predisposition to common conditions of the gut, such as acid reflux.
Risk scores in this category (3)
Heart & circulation
Genetic predisposition to heart disease, stroke, blood clots and the blood markers behind them.
Risk scores in this category (9)
Immune & inflammatory
Genetic predisposition to autoimmune, allergic and inflammatory conditions.
Risk scores in this category (3)
Lifestyle & traits
Genetic influences on everyday traits such as sleep, coffee, vitamin D and skin.
Risk scores in this category (6)
Longevity & ageing
Genetic influences on lifespan and on conditions that become more common with age.
Risk scores in this category (7)
Mental health & wellbeing
Genetic predisposition to common mental health conditions and aspects of wellbeing.
Risk scores in this category (8)
Metabolism & body
Genetic influences on blood sugar, body size and metabolic health.
Risk scores in this category (5)
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