AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
Trait
Hole in heart wall separating two lower heart chambers
Clinical name: Ventricular septal defect
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Summary
- Also called
- Ventricular septal defects, Ventriculoseptal defect, VSD
- Body system
- Abnormality of the cardiovascular system
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/ventricular-septal-defect.json"
page <- fromJSON(url)
page$trait$nameWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
Read the genes linked to Hole in heart wall separating two lower heart chambers, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test196 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Intellectual DisabilityReads 58 of these genesCTCFJMJD1CCDK13CHD4KAT6AMED23About this report →
- Diamond-Blackfan AnemiaReads 14 of these genesRPL15RPS26GATA1HEATR3RPL11RPL26About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 13 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Coffin-Siris SyndromeReads 11 of these genesARID1AARID1BARID2DPF2SMARCA4SMARCB1About this report →
Show 192 more reports
- Noonan SyndromeReads 13 of these genesPPP1CBHRASRIT1RRAS2KRASLZTR1About this report →
- Inherited Congenital Heart DefectsReads 9 of these genesFLNANKX2-5GATA6ELNGATA4TBX5About this report →
- Cornelia de Lange SyndromeReads 6 of these genesBRD4HDAC8NIPBLRAD21SMC1ASMC3About this report →
- Heterotaxy & Laterality DefectsReads 7 of these genesPKD1L1ZIC3ACVR2BDAW1NODALCIROPAbout this report →
- Epilepsy (Full Panel)Reads 29 of these genesFLNARNU2-2ATP6V1AOTUD6BAARS1ARXAbout this report →
- Hypertrophic CardiomyopathyReads 15 of these genesPPP1CBHRASNSD1RIT1RRAS2ACADVLAbout this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 4 of these genesAKT3CCND2PIK3R2PIK3CAAbout this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 3 of these genesSMARCA4SMARCB1SMARCE1About this report →
- Other Inherited LeukodystrophiesReads 15 of these genesAARS1PEX1PEX10PEX11BPEX12PEX13About this report →
- Rare Hereditary Peripheral NeuropathiesReads 25 of these genesCOQ4DSTECHS1FIG4AARS1JAG1About this report →
- Adams-Oliver SyndromeReads 4 of these genesDLL4EOGTNOTCH1ARHGAP31About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 8 of these genesBCORSTRA6ERCC2SOX2COX7BHCCSAbout this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 3 of these genesRERESOX11TRRAPAbout this report →
- NeurofibromatosisReads 3 of these genesLZTR1SMARCB1NF1About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 3 of these genesDNMT3ANSD1NFIXAbout this report →
- Alagille SyndromeReads 2 of these genesJAG1NOTCH2About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Inherited Neurodegenerative DisordersReads 26 of these genesFIG4VAC14WASHC5AARS1ATN1PEX1About this report →
- Marfan Like SyndromesReads 4 of these genesSMAD2FBN1TGFB3FBN2About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 6 of these genesPAN2RNU4-2TBCKTRAF7ZFXZMYM2About this report →
- OsteopetrosisReads 4 of these genesTCIRG1TNFRSF11AAMER1LRP5About this report →
- DNA Repair DiseaseReads 7 of these genesFANCCFANCIERCC2ERCC3FANCBGTF2H5About this report →
- Syndromic CraniosynostosisReads 5 of these genesKAT6AZNF462FGFR1FGFR2RAB23About this report →
- Hereditary Episodic AtaxiasReads 2 of these genesKCNA1SCN2AAbout this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- 3MC Syndrome 1 (MASP1)Reads 1 of these genesMASP1About this report →
- Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsReads 1 of these genesFOXF1About this report →
- Alzahrani-Kuwahara SyndromeReads 1 of these genesSMG8About this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- ARC Syndrome 1 (VPS33B)Reads 1 of these genesVPS33BAbout this report →
- ARC Syndrome 2 (VIPAS39)Reads 1 of these genesVIPAS39About this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- BAP1 Tumour Predisposition SyndromeReads 1 of these genesBAP1About this report →
- Beaulieu-Boycott-Innes Syndrome (THOC6)Reads 1 of these genesTHOC6About this report →
- Beck-Fahrner SyndromeReads 1 of these genesTET3About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- Burn-McKeown SyndromeReads 1 of these genesTXNL4AAbout this report →
- Cardiac-Urogenital SyndromeReads 1 of these genesMYRFAbout this report →
- Catel-Manzke SyndromeReads 1 of these genesTGDSAbout this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- CWC27-Related Retinitis Pigmentosa with Skeletal AnomaliesReads 1 of these genesCWC27About this report →
- Deficiency of Adenosine Deaminase 2 (DADA2)Reads 1 of these genesADA2About this report →
- DeSanto-Shinawi SyndromeReads 1 of these genesWACAbout this report →
- Desbuquois Dysplasia 1Reads 1 of these genesCANT1About this report →
- DPH1-Related Developmental Delay with Short StatureReads 1 of these genesDPH1About this report →
- ECHS1 DeficiencyReads 1 of these genesECHS1About this report →
- Feingold Syndrome Type 1Reads 1 of these genesMYCNAbout this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- Frank-Ter Haar SyndromeReads 1 of these genesSH3PXD2BAbout this report →
- Greig Cephalopolysyndactyly SyndromeReads 1 of these genesGLI3About this report →
- H SyndromeReads 1 of these genesSLC29A3About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- Hand-Foot-Genital SyndromeReads 1 of these genesHOXA13About this report →
- Johanson-Blizzard SyndromeReads 1 of these genesUBR1About this report →
- KAT6B-Related DisordersReads 1 of these genesKAT6BAbout this report →
- Kaufman Oculocerebrofacial SyndromeReads 1 of these genesUBE3BAbout this report →
- Keutel SyndromeReads 1 of these genesMGPAbout this report →
- Mandibulofacial Dysostosis with MicrocephalyReads 1 of these genesEFTUD2About this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- Meier-Gorlin Syndrome 7 (CDC45)Reads 1 of these genesCDC45About this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Neurooculocardiogenitourinary Syndrome (WDR37)Reads 1 of these genesWDR37About this report →
- NR2F2-Related Congenital Anomalies SyndromeReads 1 of these genesNR2F2About this report →
- Orofaciodigital Syndrome Type 14Reads 1 of these genesC2CD3About this report →
- PALB2 related diseasesReads 1 of these genesPALB2About this report →
- Phenylketonuria (PKU)Reads 1 of these genesPAHAbout this report →
- PLD1-Related Congenital Heart DiseaseReads 1 of these genesPLD1About this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Roberts SyndromeReads 1 of these genesESCO2About this report →
- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)Reads 1 of these genesSF3B4About this report →
- Short-Rib Thoracic Dysplasia 8 (DYNC2I1)Reads 1 of these genesDYNC2I1About this report →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Skraban-Deardorff SyndromeReads 1 of these genesWDR26About this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsReads 1 of these genesCHST3About this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- Stankiewicz-Isidor SyndromeReads 1 of these genesPSMD12About this report →
- TMEM94-Related Intellectual Disability with Heart DefectsReads 1 of these genesTMEM94About this report →
- Townes-Brocks SyndromeReads 1 of these genesSALL1About this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- Ulnar-Mammary SyndromeReads 1 of these genesTBX3About this report →
- Very Long Chain Acyl-Coa Dehydrogenase DeficiencyReads 1 of these genesACADVLAbout this report →
- Warsaw Breakage SyndromeReads 1 of these genesDDX11About this report →
- X-Linked Chondrodysplasia Punctata 1Reads 1 of these genesARSLAbout this report →
- X-Linked Opitz G/BBB SyndromeReads 1 of these genesMID1About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Fanconi AnemiaReads 4 of these genesFANCCFANCIFANCBPALB2About this report →
- Congenital Disorders of GlycosylationReads 9 of these genesEXT2MGAT2ALG9COG6PGM1PIGLAbout this report →
- Mosaic Variegated Aneuploidy SyndromeReads 2 of these genesCEP57SLF2About this report →
- Periventricular Nodular HeterotopiaReads 2 of these genesFLNANEDD4LAbout this report →
- Inherited ThrombocytopeniasReads 5 of these genesGP1BBFLI1GATA1RAP1BRBM8AAbout this report →
- Bardet-Biedl and Alström SyndromesReads 4 of these genesIFT172IFT27MKKSCEP290About this report →
- Lissencephaly Spectrum DisordersReads 4 of these genesAPC2ARXMACF1TUBG1About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 2 of these genesFLNAERBB3About this report →
- Loeys-Dietz SyndromeReads 2 of these genesSMAD2TGFB3About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 2 of these genesEVCEVC2About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Congenital Intestinal Atresia & Short BowelReads 1 of these genesTTC7AAbout this report →
- DOORS SyndromeReads 1 of these genesTBC1D24About this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Hereditary Gingival FibromatosisReads 1 of these genesSOS1About this report →
- Hereditary Multiple OsteochondromasReads 1 of these genesEXT2About this report →
- Hereditary Wilms TumourReads 1 of these genesWT1About this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Müllerian Aplasia (MRKH Syndrome)Reads 1 of these genesWNT4About this report →
- Pseudoxanthoma ElasticumReads 1 of these genesGGCXAbout this report →
- Rare Inherited Megaloblastic AnaemiasReads 1 of these genesUMPSAbout this report →
- Severe Inherited Insulin ResistanceReads 1 of these genesINSRAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 3 of these genesGATA4WT1ATRXAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 4 of these genesADA2POLA1SKIC3SKIC2About this report →
- GPI Anchor Biosynthesis DefectsReads 3 of these genesPIGLPIGPPIGQAbout this report →
- Rare Inherited Coagulation Factor DeficienciesReads 2 of these genesGGCXVKORC1About this report →
- Congenital Diaphragmatic Hernia (Monogenic)Reads 1 of these genesALDH1A2About this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesKIFBPAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Tetralogy of FallotReads 1 of these genesNKX2-5About this report →
- Female InfertilityReads 4 of these genesLARS2WNT4NUP107TP63About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 4 of these genesPEX6TMEM237PNKPCEP290About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 2 of these genesAPC2TUBG1About this report →
- Cutis LaxaReads 2 of these genesATP6V1AELNAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 2 of these genesCCBE1FOXC2About this report →
- Familial Paget Disease of BoneReads 1 of these genesTNFRSF11AAbout this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesGDF6About this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesLRP5About this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A2About this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesTCTN3TMEM237CEP290About this report →
- Charcot-Marie-Tooth DiseaseReads 4 of these genesFIG4AARS1JAG1YARS1About this report →
- Congenital HypothyroidismReads 2 of these genesNKX2-5NKX2-1About this report →
- Congenital MyopathiesReads 2 of these genesRYR1KLHL41About this report →
- Neonatal Diabetes MellitusReads 2 of these genesGATA6GATA4About this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesLRP5About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 2 of these genesCHMP1APRDM13About this report →
- Primary Mitochondrial DiseaseReads 5 of these genesCOQ4UQCRFS1DNAJC30MTFMTNDUFB11About this report →
- Primary Ciliary DyskinesiaReads 3 of these genesDAW1ODAD1ODAD3About this report →
- Hypogonadotropic HypogonadismReads 3 of these genesCHD7PLXND1FGFR1About this report →
- Other Inborn Errors of ImmunityReads 6 of these genesTBX1FADDKRASNCF1SKIC3SKIC2About this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesIGF1RAbout this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesNKX2-5About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 2 of these genesPLCH1GLI3About this report →
- VitreoretinopathyReads 2 of these genesXYLT2LRP5About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Leigh SyndromeReads 3 of these genesECHS1MTFMTPDHA1About this report →
- Diabetes MellitusReads 2 of these genesGATA6GATA4About this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesPHGDHAbout this report →
- GlaucomaReads 1 of these genesLTBP2About this report →
- GlomerulosclerosisReads 1 of these genesCRB2About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesCACNA1DAbout this report →
- Osteogenesis ImperfectaReads 2 of these genesXYLT2LRP5About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesVAC14PNKPAbout this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 1 of these genesPALB2About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesXYLT1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesNSD1About this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- Kidney CancerReads 1 of these genesBAP1About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHA1About this report →
- Focal Segmental GlomerulosclerosisReads 1 of these genesCRB2About this report →
- Hereditary Macular DystrophiesReads 1 of these genesPRDM13About this report →
- Long QT SyndromeReads 1 of these genesCACNA1CAbout this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesPPP1R13LAbout this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 1 of these genesSOX17About this report →
- HyperinsulinismReads 1 of these genesINSRAbout this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG9About this report →
- Type I InterferonopathiesReads 1 of these genesPOLA1About this report →
- Urinary and Renal System TumourReads 1 of these genesBAP1About this report →
- Dilated CardiomyopathyReads 2 of these genesPGM1PPP1R13LAbout this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Glycogen Storage DiseaseReads 1 of these genesSLC37A4About this report →
- Monogenic Hypertension & Mineralocorticoid DisordersReads 1 of these genesCACNA1DAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 1 of these genesACADVLAbout this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesWASHC5NIPA1About this report →
- Ectodermal DysplasiasReads 1 of these genesTP63About this report →
- Epidermolysis BullosaReads 1 of these genesDSTAbout this report →
- Autoimmune DiseaseReads 1 of these genesKRASAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesB3GALT6About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesDSTAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Hearing Loss and DeafnessReads 2 of these genesSLC12A2TBC1D24About this report →
- Spinal Muscular AtrophyReads 1 of these genesSMN1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Nephrotic SyndromeReads 1 of these genesNUP107About this report →
- Thyroid CancerReads 1 of these genesNKX2-5About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesGJA1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesATN1About this report →
- Male InfertilityReads 1 of these genesFKBP6About this report →
- Retinitis PigmentosaReads 1 of these genesIFT172About this report →
Read the genes linked to Hole in heart wall separating two lower heart chambers, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test523 genes linked to Hole in heart wall separating two lower heart chambers
Changes in these genes cause rare conditions in which Hole in heart wall separating two lower heart chambers is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AMOTL1angiomotin like 1 | Always | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Always | In 1 condition |
| COQ4coenzyme Q4 | Always | In 1 condition |
| CTCFCCCTC-binding factor | Always | In 1 condition |
| DDX11DEAD/H-box helicase 11 | Always | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Always | In 1 condition |
| ECE1endothelin converting enzyme 1 | Always | In 1 condition |
| ERI1exoribonuclease 1 | Always | In 1 condition |
| FAAP100FA core complex associated protein 100 | Always | In 1 condition |
| FANCCFA complementation group C | Always | In 1 condition |
| FANCIFA complementation group I | Always | In 1 condition |
| FIBPFGF1 intracellular binding protein | Always | In 2 conditions |
| FLNAfilamin A | Always | In 1 condition |
| GPC3glypican 3 | Always | In 2 conditions |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| NKX2-5NK2 homeobox 5 | Always | In 3 conditions |
| NOTCH3notch receptor 3 | Always | In 3 conditions |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Always | In 1 condition |
| PKD1L1polycystin 1 like 1, transient receptor potential channel interacting | Always | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Always | In 1 condition |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| RNU5B-1RNA, U5B small nuclear 1 | Always | In 1 condition |
| RPL15ribosomal protein L15 | Always | In 2 conditions |
| RYR1ryanodine receptor 1 | Always | In 1 condition |
| SMG9SMG9 nonsense mediated mRNA decay factor | Always | In 2 conditions |
| SNAPINSNAP associated protein | Always | In 1 condition |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Always | In 2 conditions |
| SRSF1serine and arginine rich splicing factor 1 | Always | In 1 condition |
| TBC1D32TBC1 domain family member 32 | Always | In 1 condition |
| TM2D3TM2 domain containing 3 | Always | In 1 condition |
| TMEM260transmembrane protein 260 | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| ARVCFARVCF delta catenin family member | Very often (80–99%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Very often (80–99%) | In 1 condition |
| DTNAdystrobrevin alpha | Very often (80–99%) | In 1 condition |
| GATA6GATA binding protein 6 | Very often (80–99%) | In 2 conditions |
| GP1BBglycoprotein Ib platelet subunit beta | Very often (80–99%) | In 1 condition |
| GPC4glypican 4 | Very often (80–99%) | In 1 condition |
| HIRAhistone cell cycle regulator | Very often (80–99%) | In 1 condition |
Show 483 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| HRASHRas proto-oncogene, GTPase | Very often (80–99%) | In 2 conditions |
| HYMAIhydatidiform mole associated and imprinted | Very often (80–99%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Very often (80–99%) | In 1 condition |
| PLAGL1PLAG1 like zinc finger 1 | Very often (80–99%) | In 1 condition |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Very often (80–99%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Very often (80–99%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Very often (80–99%) | In 1 condition |
| SLC29A3solute carrier family 29 member 3 | Very often (80–99%) | In 2 conditions |
| TBX1T-box transcription factor 1 | Very often (80–99%) | In 4 conditions |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Very often (80–99%) | In 1 condition |
| TKTtransketolase | Very often (80–99%) | In 2 conditions |
| TNFRSF11ATNF receptor superfamily member 11a | Very often (80–99%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Very often (80–99%) | In 1 condition |
| ZIC3Zic family zinc finger 3 | Very often (80–99%) | In 1 condition |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| ACVR2Bactivin A receptor type 2B | Often (30–79%) | In 1 condition |
| AFF4ALF transcription elongation factor 4 | Often (30–79%) | In 2 conditions |
| AKT3AKT serine/threonine kinase 3 | Often (30–79%) | In 1 condition |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Often (30–79%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Often (30–79%) | In 1 condition |
| BCORBCL6 corepressor | Often (30–79%) | In 1 condition |
| C2CD3C2 domain containing 3 centriole elongation regulator | Often (30–79%) | In 2 conditions |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Often (30–79%) | In 2 conditions |
| CANT1calcium activated nucleotidase 1 | Often (30–79%) | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Often (30–79%) | In 2 conditions |
| CCDC32coiled-coil domain containing 32 | Often (30–79%) | In 1 condition |
| CCND2cyclin D2 | Often (30–79%) | In 1 condition |
| CDK13cyclin dependent kinase 13 | Often (30–79%) | In 1 condition |
| CEP57centrosomal protein 57 | Often (30–79%) | In 1 condition |
| CHD4chromodomain helicase DNA binding protein 4 | Often (30–79%) | In 1 condition |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Often (30–79%) | In 2 conditions |
| CTU2cytosolic thiouridylase subunit 2 | Often (30–79%) | In 1 condition |
| DAW1dynein assembly factor with WD repeats 1 | Often (30–79%) | In 1 condition |
| DDX59DEAD-box helicase 59 | Often (30–79%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Often (30–79%) | In 2 conditions |
| DLG5discs large MAGUK scaffold protein 5 | Often (30–79%) | In 1 condition |
| DOHHdeoxyhypusine hydroxylase | Often (30–79%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Often (30–79%) | In 1 condition |
| DPH1diphthamide biosynthesis 1 | Often (30–79%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Often (30–79%) | In 1 condition |
| DSTdystonin | Often (30–79%) | In 1 condition |
| DVL3dishevelled segment polarity protein 3 | Often (30–79%) | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Often (30–79%) | In 1 condition |
| ECHS1enoyl-CoA hydratase, short chain 1 | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 3 conditions |
| EVCEvC ciliary complex subunit 1 | Often (30–79%) | In 1 condition |
| EVC2EvC ciliary complex subunit 2 | Often (30–79%) | In 1 condition |
| EXOC2exocyst complex component 2 | Often (30–79%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Often (30–79%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 2 conditions |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Often (30–79%) | In 1 condition |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Often (30–79%) | In 1 condition |
| GATA4GATA binding protein 4 | Often (30–79%) | In 2 conditions |
| GATA5GATA binding protein 5 | Often (30–79%) | In 1 condition |
| GLI1GLI family zinc finger 1 | Often (30–79%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Often (30–79%) | In 2 conditions |
| IFT81intraflagellar transport 81 | Often (30–79%) | In 1 condition |
| IGBP1immunoglobulin binding protein 1 | Often (30–79%) | In 2 conditions |
| IPO8importin 8 | Often (30–79%) | In 1 condition |
| KAT5lysine acetyltransferase 5 | Often (30–79%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Often (30–79%) | In 2 conditions |
| KAT6Blysine acetyltransferase 6B | Often (30–79%) | In 2 conditions |
| MED23mediator complex subunit 23 | Often (30–79%) | In 1 condition |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Often (30–79%) | In 2 conditions |
| MGPmatrix Gla protein | Often (30–79%) | In 2 conditions |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Often (30–79%) | In 2 conditions |
| MYRFmyelin regulatory factor | Often (30–79%) | In 1 condition |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Often (30–79%) | In 1 condition |
| NEK9NIMA related kinase 9 | Often (30–79%) | In 2 conditions |
| NODALnodal growth differentiation factor | Often (30–79%) | In 1 condition |
| NR2F2nuclear receptor subfamily 2 group F member 2 | Often (30–79%) | In 2 conditions |
| NSD1nuclear receptor binding SET domain protein 1 | Often (30–79%) | In 2 conditions |
| OTUD5OTU deubiquitinase 5 | Often (30–79%) | In 1 condition |
| OTUD6BOTU deubiquitinase 6B | Often (30–79%) | In 2 conditions |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Often (30–79%) | In 2 conditions |
| PLCH1phospholipase C eta 1 | Often (30–79%) | In 1 condition |
| PLD1phospholipase D1 | Often (30–79%) | In 1 condition |
| PLXND1plexin D1 | Often (30–79%) | In 1 condition |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Often (30–79%) | In 1 condition |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Often (30–79%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Often (30–79%) | In 3 conditions |
| REREarginine-glutamic acid dipeptide repeats | Often (30–79%) | In 2 conditions |
| RIT1Ras like without CAAX 1 | Often (30–79%) | In 1 condition |
| RPL10ribosomal protein L10 | Often (30–79%) | In 2 conditions |
| RPS26ribosomal protein S26 | Often (30–79%) | In 2 conditions |
| RRAGCRas related GTP binding C | Often (30–79%) | In 1 condition |
| RRAS2RAS related 2 | Often (30–79%) | In 1 condition |
| SCAF4SR-related CTD associated factor 4 | Often (30–79%) | In 1 condition |
| SH3PXD2BSH3 and PX domains 2B | Often (30–79%) | In 1 condition |
| SMAD2SMAD family member 2 | Often (30–79%) | In 1 condition |
| SMG8SMG8 nonsense mediated mRNA decay factor | Often (30–79%) | In 1 condition |
| STRA6signaling receptor and transporter of retinol STRA6 | Often (30–79%) | In 1 condition |
| TASP1taspase 1 | Often (30–79%) | In 1 condition |
| TBX5T-box transcription factor 5 | Often (30–79%) | In 2 conditions |
| TGDSTDP-glucose 4,6-dehydratase | Often (30–79%) | In 2 conditions |
| THOC6THO complex subunit 6 | Often (30–79%) | In 1 condition |
| TMEM94transmembrane protein 94 | Often (30–79%) | In 1 condition |
| TPRtranslocated promoter region, nuclear basket protein | Often (30–79%) | In 1 condition |
| UBE2Aubiquitin conjugating enzyme E2 A | Often (30–79%) | In 1 condition |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Often (30–79%) | In 1 condition |
| VAC14VAC14 component of PIKFYVE complex | Often (30–79%) | In 1 condition |
| VPS35LVPS35 endosomal protein sorting factor like | Often (30–79%) | In 1 condition |
| WASHC5WASH complex subunit 5 | Often (30–79%) | In 2 conditions |
| WDR37WD repeat domain 37 | Often (30–79%) | In 1 condition |
| WNT4Wnt family member 4 | Often (30–79%) | In 2 conditions |
| XYLT1xylosyltransferase 1 | Often (30–79%) | In 1 condition |
| XYLT2xylosyltransferase 2 | Often (30–79%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| ACADVLacyl-CoA dehydrogenase very long chain | Sometimes (5–29%) | In 1 condition |
| ADA2adenosine deaminase 2 | Sometimes (5–29%) | In 1 condition |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Sometimes (5–29%) | In 2 conditions |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Sometimes (5–29%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Sometimes (5–29%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Sometimes (5–29%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Sometimes (5–29%) | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Sometimes (5–29%) | In 1 condition |
| ARCN1archain 1 coat protein complex I subunit delta | Sometimes (5–29%) | In 1 condition |
| ARID1AAT-rich interaction domain 1A | Sometimes (5–29%) | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Sometimes (5–29%) | In 2 conditions |
| ARID2AT-rich interaction domain 2 | Sometimes (5–29%) | In 1 condition |
| ARXaristaless related homeobox | Sometimes (5–29%) | In 2 conditions |
| ATN1atrophin 1 | Sometimes (5–29%) | In 1 condition |
| AXIN1axin 1 | Sometimes (5–29%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Sometimes (5–29%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sometimes (5–29%) | In 1 condition |
| BCRBCR activator of RhoGEF and GTPase | Sometimes (5–29%) | In 1 condition |
| BRD4bromodomain containing 4 | Sometimes (5–29%) | In 2 conditions |
| BRF1BRF1 general transcription factor IIIB subunit | Sometimes (5–29%) | In 2 conditions |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| CACHD1cache domain containing 1 | Sometimes (5–29%) | In 1 condition |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Sometimes (5–29%) | In 1 condition |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CCBE1collagen and calcium binding EGF domains 1 | Sometimes (5–29%) | In 1 condition |
| CCDC47coiled-coil domain containing 47 | Sometimes (5–29%) | In 1 condition |
| CDC45cell division cycle 45 | Sometimes (5–29%) | In 1 condition |
| CDK8cyclin dependent kinase 8 | Sometimes (5–29%) | In 1 condition |
| CHMP1Acharged multivesicular body protein 1A | Sometimes (5–29%) | In 1 condition |
| CHRM3cholinergic receptor muscarinic 3 | Sometimes (5–29%) | In 1 condition |
| CIROPciliated left-right organizer metallopeptidase | Sometimes (5–29%) | In 1 condition |
| CIROZciliated left-right organizer protein containing ZP-N domains | Sometimes (5–29%) | In 1 condition |
| CKAP2Lcytoskeleton associated protein 2L | Sometimes (5–29%) | In 2 conditions |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| COG6component of oligomeric golgi complex 6 | Sometimes (5–29%) | In 1 condition |
| CRB2crumbs cell polarity complex component 2 | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Sometimes (5–29%) | In 3 conditions |
| CRKLCRK like proto-oncogene, adaptor protein | Sometimes (5–29%) | In 1 condition |
| CUX1cut like homeobox 1 | Sometimes (5–29%) | In 1 condition |
| CWC27CWC27 spliceosome associated cyclophilin | Sometimes (5–29%) | In 2 conditions |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 2 conditions |
| DLL4delta like canonical Notch ligand 4 | Sometimes (5–29%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| DPF2double PHD fingers 2 | Sometimes (5–29%) | In 2 conditions |
| DVL1dishevelled segment polarity protein 1 | Sometimes (5–29%) | In 1 condition |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Sometimes (5–29%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Sometimes (5–29%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Sometimes (5–29%) | In 2 conditions |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| FADDFas associated via death domain | Sometimes (5–29%) | In 2 conditions |
| FANCBFA complementation group B | Sometimes (5–29%) | In 1 condition |
| FBN1fibrillin 1 | Sometimes (5–29%) | In 2 conditions |
| FBXO22F-box protein 22 | Sometimes (5–29%) | In 1 condition |
| FEM1Bfem-1 homolog B | Sometimes (5–29%) | In 1 condition |
| FILIP1filamin A interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
| FOCADfocadhesin | Sometimes (5–29%) | In 1 condition |
| FOXC2forkhead box C2 | Sometimes (5–29%) | In 1 condition |
| FOXF1forkhead box F1 | Sometimes (5–29%) | In 2 conditions |
| FRA10AC1FRA10A associated CGG repeat 1 | Sometimes (5–29%) | In 1 condition |
| FRYLFRY like transcription coactivator | Sometimes (5–29%) | In 1 condition |
| GATA1GATA binding protein 1 | Sometimes (5–29%) | In 1 condition |
| GDF3growth differentiation factor 3 | Sometimes (5–29%) | In 1 condition |
| GDF6growth differentiation factor 6 | Sometimes (5–29%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Sometimes (5–29%) | In 1 condition |
| GLI3GLI family zinc finger 3 | Sometimes (5–29%) | In 2 conditions |
| GNB2G protein subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| GTF2E2general transcription factor IIE subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2H5general transcription factor IIH subunit 5 | Sometimes (5–29%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Sometimes (5–29%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Sometimes (5–29%) | In 1 condition |
| HDAC8histone deacetylase 8 | Sometimes (5–29%) | In 1 condition |
| HEATR3HEAT repeat containing 3 | Sometimes (5–29%) | In 1 condition |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Sometimes (5–29%) | In 1 condition |
| HOXA13homeobox A13 | Sometimes (5–29%) | In 1 condition |
| IFT172intraflagellar transport 172 | Sometimes (5–29%) | In 1 condition |
| IFT27intraflagellar transport 27 | Sometimes (5–29%) | In 1 condition |
| IFT56intraflagellar transport 56 | Sometimes (5–29%) | In 1 condition |
| INSRinsulin receptor | Sometimes (5–29%) | In 1 condition |
| JAG1jagged canonical Notch ligand 1 | Sometimes (5–29%) | In 2 conditions |
| JAM3junctional adhesion molecule 3 | Sometimes (5–29%) | In 1 condition |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| KAT8lysine acetyltransferase 8 | Sometimes (5–29%) | In 1 condition |
| KDM2Blysine demethylase 2B | Sometimes (5–29%) | In 1 condition |
| KDM3Blysine demethylase 3B | Sometimes (5–29%) | In 1 condition |
| KDM5Alysine demethylase 5A | Sometimes (5–29%) | In 1 condition |
| KDM6Alysine demethylase 6A | Sometimes (5–29%) | In 1 condition |
| KIFBPkinesin family binding protein | Sometimes (5–29%) | In 1 condition |
| KLHL41kelch like family member 41 | Sometimes (5–29%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Sometimes (5–29%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| LBRlamin B receptor | Sometimes (5–29%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Sometimes (5–29%) | In 3 conditions |
| LRP2LDL receptor related protein 2 | Sometimes (5–29%) | In 2 conditions |
| LTBP2latent transforming growth factor beta binding protein 2 | Sometimes (5–29%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Sometimes (5–29%) | In 2 conditions |
| MACF1microtubule actin crosslinking factor 1 | Sometimes (5–29%) | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sometimes (5–29%) | In 1 condition |
| MAPK1mitogen-activated protein kinase 1 | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| MED12mediator complex subunit 12 | Sometimes (5–29%) | In 3 conditions |
| MED13Lmediator complex subunit 13L | Sometimes (5–29%) | In 1 condition |
| MED16mediator complex subunit 16 | Sometimes (5–29%) | In 1 condition |
| MED25mediator complex subunit 25 | Sometimes (5–29%) | In 2 conditions |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 2 conditions |
| MEIS2Meis homeobox 2 | Sometimes (5–29%) | In 2 conditions |
| MEOX1mesenchyme homeobox 1 | Sometimes (5–29%) | In 2 conditions |
| METTL27methyltransferase like 27 | Sometimes (5–29%) | In 1 condition |
| MICU1mitochondrial calcium uptake 1 | Sometimes (5–29%) | In 1 condition |
| MID1midline 1 | Sometimes (5–29%) | In 2 conditions |
| MIR17HGmiR-17-92a-1 cluster host gene | Sometimes (5–29%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Sometimes (5–29%) | In 1 condition |
| MLXIPLMLX interacting protein like | Sometimes (5–29%) | In 1 condition |
| MMP14matrix metallopeptidase 14 | Sometimes (5–29%) | In 1 condition |
| MMP2matrix metallopeptidase 2 | Sometimes (5–29%) | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 2 conditions |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Sometimes (5–29%) | In 1 condition |
| MYH3myosin heavy chain 3 | Sometimes (5–29%) | In 1 condition |
| MYOCDmyocardin | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 2 conditions |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Sometimes (5–29%) | In 1 condition |
| NAV3neuron navigator 3 | Sometimes (5–29%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| NEK1NIMA related kinase 1 | Sometimes (5–29%) | In 1 condition |
| NFIXnuclear factor I X | Sometimes (5–29%) | In 2 conditions |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 2 conditions |
| NKAPNFKB activating protein | Sometimes (5–29%) | In 1 condition |
| NKX2-1NK2 homeobox 1 | Sometimes (5–29%) | In 2 conditions |
| NONOnon-POU domain containing octamer binding | Sometimes (5–29%) | In 2 conditions |
| NOTCH1notch receptor 1 | Sometimes (5–29%) | In 1 condition |
| NOTCH2notch receptor 2 | Sometimes (5–29%) | In 2 conditions |
| NXNnucleoredoxin | Sometimes (5–29%) | In 1 condition |
| ODAD1outer dynein arm docking complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| ODAD3outer dynein arm docking complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| PACS1phosphofurin acidic cluster sorting protein 1 | Sometimes (5–29%) | In 1 condition |
| PACS2phosphofurin acidic cluster sorting protein 2 | Sometimes (5–29%) | In 1 condition |
| PAHphenylalanine hydroxylase | Sometimes (5–29%) | In 1 condition |
| PALB2partner and localizer of BRCA2 | Sometimes (5–29%) | In 1 condition |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Sometimes (5–29%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Sometimes (5–29%) | In 2 conditions |
| PEX10peroxisomal biogenesis factor 10 | Sometimes (5–29%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Sometimes (5–29%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Sometimes (5–29%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Sometimes (5–29%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Sometimes (5–29%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Sometimes (5–29%) | In 2 conditions |
| PEX19peroxisomal biogenesis factor 19 | Sometimes (5–29%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Sometimes (5–29%) | In 2 conditions |
| PEX26peroxisomal biogenesis factor 26 | Sometimes (5–29%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Sometimes (5–29%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Sometimes (5–29%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Sometimes (5–29%) | In 1 condition |
| PGM1phosphoglucomutase 1 | Sometimes (5–29%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sometimes (5–29%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sometimes (5–29%) | In 2 conditions |
| POLA1DNA polymerase alpha 1, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| POLR1ARNA polymerase I subunit A | Sometimes (5–29%) | In 1 condition |
| PPFIBP1PPFIB scaffold protein 1 | Sometimes (5–29%) | In 1 condition |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Sometimes (5–29%) | In 1 condition |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Sometimes (5–29%) | In 1 condition |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Sometimes (5–29%) | In 1 condition |
| PRDM13PR/SET domain 13 | Sometimes (5–29%) | In 1 condition |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Sometimes (5–29%) | In 1 condition |
| RAB34RAB34, member RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| RAC1Rac family small GTPase 1 | Sometimes (5–29%) | In 2 conditions |
| RAD21RAD21 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| RAI1retinoic acid induced 1 | Sometimes (5–29%) | In 1 condition |
| RAP1BRAP1B, member of RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| RBM8ARNA binding motif protein 8A | Sometimes (5–29%) | In 1 condition |
| RBMXRNA binding motif protein X-linked | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| RFX7regulatory factor X7 | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Sometimes (5–29%) | In 2 conditions |
| ROR2ROR family WNT receptor 2 | Sometimes (5–29%) | In 2 conditions |
| RPL11ribosomal protein L11 | Sometimes (5–29%) | In 2 conditions |
| RPL18ribosomal protein L18 | Sometimes (5–29%) | In 1 condition |
| RPL26ribosomal protein L26 | Sometimes (5–29%) | In 1 condition |
| RPL27ribosomal protein L27 | Sometimes (5–29%) | In 1 condition |
| RPL31ribosomal protein L31 | Sometimes (5–29%) | In 1 condition |
| RPL35ribosomal protein L35 | Sometimes (5–29%) | In 1 condition |
| RPL35Aribosomal protein L35a | Sometimes (5–29%) | In 2 conditions |
| RPL5ribosomal protein L5 | Sometimes (5–29%) | In 2 conditions |
| RPL8ribosomal protein L8 | Sometimes (5–29%) | In 1 condition |
| RPL9ribosomal protein L9 | Sometimes (5–29%) | In 1 condition |
| RPS10ribosomal protein S10 | Sometimes (5–29%) | In 1 condition |
| RPS15Aribosomal protein S15a | Sometimes (5–29%) | In 1 condition |
| RPS17ribosomal protein S17 | Sometimes (5–29%) | In 1 condition |
| RPS19ribosomal protein S19 | Sometimes (5–29%) | In 2 conditions |
| RPS20ribosomal protein S20 | Sometimes (5–29%) | In 1 condition |
| RPS24ribosomal protein S24 | Sometimes (5–29%) | In 1 condition |
| RPS27ribosomal protein S27 | Sometimes (5–29%) | In 1 condition |
| RPS28ribosomal protein S28 | Sometimes (5–29%) | In 1 condition |
| RPS29ribosomal protein S29 | Sometimes (5–29%) | In 1 condition |
| RPS7ribosomal protein S7 | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 2 conditions |
| SALL1spalt like transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| SATB1SATB homeobox 1 | Sometimes (5–29%) | In 1 condition |
| SATB2SATB homeobox 2 | Sometimes (5–29%) | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Sometimes (5–29%) | In 1 condition |
| SF3B2splicing factor 3b subunit 2 | Sometimes (5–29%) | In 1 condition |
| SF3B4splicing factor 3b subunit 4 | Sometimes (5–29%) | In 1 condition |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Sometimes (5–29%) | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Sometimes (5–29%) | In 1 condition |
| SKIC3SKI3 subunit of superkiller complex | Sometimes (5–29%) | In 2 conditions |
| SLC12A2solute carrier family 12 member 2 | Sometimes (5–29%) | In 1 condition |
| SLC19A2solute carrier family 19 member 2 | Sometimes (5–29%) | In 2 conditions |
| SLC37A4solute carrier family 37 member 4 | Sometimes (5–29%) | In 1 condition |
| SLC6A1solute carrier family 6 member 1 | Sometimes (5–29%) | In 1 condition |
| SLC6A11solute carrier family 6 member 11 | Sometimes (5–29%) | In 1 condition |
| SLF2SMC5/6 complex localization factor 2 | Sometimes (5–29%) | In 1 condition |
| SMAD4SMAD family member 4 | Sometimes (5–29%) | In 1 condition |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sometimes (5–29%) | In 2 conditions |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sometimes (5–29%) | In 1 condition |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Sometimes (5–29%) | In 1 condition |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Sometimes (5–29%) | In 1 condition |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sometimes (5–29%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 2 conditions |
| SMC3structural maintenance of chromosomes 3 | Sometimes (5–29%) | In 2 conditions |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Sometimes (5–29%) | In 2 conditions |
| SONSON DNA and RNA binding protein | Sometimes (5–29%) | In 1 condition |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Sometimes (5–29%) | In 1 condition |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Sometimes (5–29%) | In 1 condition |
| SOX11SRY-box transcription factor 11 | Sometimes (5–29%) | In 1 condition |
| SOX17SRY-box transcription factor 17 | Sometimes (5–29%) | In 1 condition |
| SOX2SRY-box transcription factor 2 | Sometimes (5–29%) | In 2 conditions |
| SOX4SRY-box transcription factor 4 | Sometimes (5–29%) | In 2 conditions |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| STAG1STAG1 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| STAG2STAG2 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| TAOK1TAO kinase 1 | Sometimes (5–29%) | In 1 condition |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Sometimes (5–29%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Sometimes (5–29%) | In 1 condition |
| TBL2transducin beta like 2 | Sometimes (5–29%) | In 1 condition |
| TBX3T-box transcription factor 3 | Sometimes (5–29%) | In 2 conditions |
| TCTN3tectonic family member 3 | Sometimes (5–29%) | In 1 condition |
| TET3tet methylcytosine dioxygenase 3 | Sometimes (5–29%) | In 1 condition |
| TFAP2Btranscription factor AP-2 beta | Sometimes (5–29%) | In 1 condition |
| TIAM1TIAM Rac1 associated GEF 1 | Sometimes (5–29%) | In 1 condition |
| TMEM237transmembrane protein 237 | Sometimes (5–29%) | In 1 condition |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| TMEM53transmembrane protein 53 | Sometimes (5–29%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Sometimes (5–29%) | In 1 condition |
| TRIOtrio Rho guanine nucleotide exchange factor | Sometimes (5–29%) | In 1 condition |
| TRRAPtransformation/transcription domain associated protein | Sometimes (5–29%) | In 1 condition |
| TSHZ3teashirt zinc finger homeobox 3 | Sometimes (5–29%) | In 1 condition |
| TSR2TSR2 ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| TTC7Atetratricopeptide repeat domain 7A | Sometimes (5–29%) | In 2 conditions |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Sometimes (5–29%) | In 1 condition |
| UMPSuridine monophosphate synthetase | Sometimes (5–29%) | In 1 condition |
| VPS13Bvacuolar protein sorting 13 homolog B | Sometimes (5–29%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Sometimes (5–29%) | In 1 condition |
| WBP4WW domain binding protein 4 | Sometimes (5–29%) | In 1 condition |
| WDR26WD repeat domain 26 | Sometimes (5–29%) | In 2 conditions |
| WSB2WD repeat and SOCS box containing 2 | Sometimes (5–29%) | In 1 condition |
| WT1WT1 transcription factor | Sometimes (5–29%) | In 2 conditions |
| YARS1tyrosyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| YY1AP1YY1 associated protein 1 | Sometimes (5–29%) | In 1 condition |
| ZBTB7Azinc finger and BTB domain containing 7A | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ZMYM2zinc finger MYM-type containing 2 | Sometimes (5–29%) | In 1 condition |
| ZNF462zinc finger protein 462 | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Sometimes (5–29%) | In 1 condition |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rarely (1–4%) | In 1 condition |
| ARSLarylsulfatase L | Rarely (1–4%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Rarely (1–4%) | In 1 condition |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Rarely (1–4%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Rarely (1–4%) | In 1 condition |
| CDKL5cyclin dependent kinase like 5 | Rarely (1–4%) | In 1 condition |
| DMXL2Dmx like 2 | Rarely (1–4%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Rarely (1–4%) | In 2 conditions |
| GGCXgamma-glutamyl carboxylase | Rarely (1–4%) | In 1 condition |
| GNAO1G protein subunit alpha o1 | Rarely (1–4%) | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Rarely (1–4%) | In 1 condition |
| GRM7glutamate metabotropic receptor 7 | Rarely (1–4%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Rarely (1–4%) | In 1 condition |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Rarely (1–4%) | In 1 condition |
| KDM6Blysine demethylase 6B | Rarely (1–4%) | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Rarely (1–4%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Rarely (1–4%) | In 2 conditions |
| MT-CYBmitochondrially encoded cytochrome b | Rarely (1–4%) | In 1 condition |
| NEUROD2neuronal differentiation 2 | Rarely (1–4%) | In 1 condition |
| NF1neurofibromin 1 | Rarely (1–4%) | In 2 conditions |
| NIPA1NIPA magnesium transporter 1 | Rarely (1–4%) | In 1 condition |
| NIPA2NIPA magnesium transporter 2 | Rarely (1–4%) | In 1 condition |
| NUP107nucleoporin 107 | Rarely (1–4%) | In 2 conditions |
| PI4KAphosphatidylinositol 4-kinase alpha | Rarely (1–4%) | In 1 condition |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Rarely (1–4%) | In 1 condition |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Rarely (1–4%) | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Rarely (1–4%) | In 1 condition |
| PORCNporcupine O-acyltransferase | Rarely (1–4%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Rarely (1–4%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Rarely (1–4%) | In 1 condition |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Rarely (1–4%) | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Rarely (1–4%) | In 1 condition |
| SIK1salt inducible kinase 1 | Rarely (1–4%) | In 1 condition |
| SKIC2SKI2 subunit of superkiller complex | Rarely (1–4%) | In 1 condition |
| SLC25A22solute carrier family 25 member 22 | Rarely (1–4%) | In 1 condition |
| SLC32A1solute carrier family 32 member 1 | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| TGFB3transforming growth factor beta 3 | Rarely (1–4%) | In 1 condition |
| TRIM8tripartite motif containing 8 | Rarely (1–4%) | In 1 condition |
| TUBG1tubulin gamma 1 | Rarely (1–4%) | In 1 condition |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Rarely (1–4%) | In 1 condition |
| VKORC1vitamin K epoxide reductase complex subunit 1 | Rarely (1–4%) | In 1 condition |
| VPS33BVPS33B late endosome and lysosome associated | Rarely (1–4%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Rarely (1–4%) | In 2 conditions |
| AMER1APC membrane recruitment protein 1 | Not recorded | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Not recorded | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Not recorded | In 1 condition |
| ATRXATRX chromatin remodeler | Not recorded | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Not recorded | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Not recorded | In 1 condition |
| CCDC174coiled-coil domain containing 174 | Not recorded | In 1 condition |
| CD96CD96 molecule | Not recorded | In 1 condition |
| CEP290centrosomal protein 290 | Not recorded | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Not recorded | In 1 condition |
| CPLX1complexin 1 | Not recorded | In 1 condition |
| CTBP1C-terminal binding protein 1 | Not recorded | In 1 condition |
| DGCR2DiGeorge syndrome critical region gene 2 | Not recorded | In 1 condition |
| DGCR6DiGeorge syndrome critical region gene 6 | Not recorded | In 1 condition |
| DGCR8DGCR8 microprocessor complex subunit | Not recorded | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Not recorded | In 1 condition |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Not recorded | In 1 condition |
| ESS2ess-2 spliceosome associated protein | Not recorded | In 1 condition |
| FBN2fibrillin 2 | Not recorded | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Not recorded | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Not recorded | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Not recorded | In 1 condition |
| FLNBfilamin B | Not recorded | In 1 condition |
| GDF1growth differentiation factor 1 | Not recorded | In 2 conditions |
| GPC6glypican 6 | Not recorded | In 1 condition |
| HCCSholocytochrome c synthase | Not recorded | In 1 condition |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Not recorded | In 1 condition |
| IGF1Rinsulin like growth factor 1 receptor | Not recorded | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Not recorded | In 1 condition |
| LRP5LDL receptor related protein 5 | Not recorded | In 1 condition |
| MASP1MBL associated serine protease 1 | Not recorded | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Not recorded | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Not recorded | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Not recorded | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Not recorded | In 1 condition |
| PQBP1polyglutamine binding protein 1 | Not recorded | In 1 condition |
| RAB23RAB23, member RAS oncogene family | Not recorded | In 1 condition |
| RARBretinoic acid receptor beta | Not recorded | In 1 condition |
| RSPO2R-spondin 2 | Not recorded | In 1 condition |
| SALL4spalt like transcription factor 4 | Not recorded | In 1 condition |
| SIX6SIX homeobox 6 | Not recorded | In 1 condition |
| SMN1survival of motor neuron 1, telomeric | Not recorded | In 1 condition |
| STAMBPSTAM binding protein | Not recorded | In 1 condition |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Not recorded | In 1 condition |
| TALDO1transaldolase 1 | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 1 | Not recorded | In 1 condition |
| TP63tumor protein p63 | Not recorded | In 1 condition |
| TRAIPTRAF interacting protein | Not recorded | In 1 condition |
| TXNL4Athioredoxin like 4A | Not recorded | In 1 condition |
| UBE3Bubiquitin protein ligase E3B | Not recorded | In 1 condition |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Not recorded | In 1 condition |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.18-8b139e39.
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
From $449
Free shipping · Results in 6–8 weeks
