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Trait
Delayed puberty
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Summary
- Also called
- Delayed pubertal development, Delayed pubertal growth, Pubertal delay
AtlasWho We HelpOur ScienceProductsOutcomes
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Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/delayed-puberty.json"
page <- fromJSON(url)
page$trait$nameDelayed pubertyHP:0000823
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
Read the genes linked to Delayed puberty, and the rest of your genome, with one test.
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Get my Genome Test119 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.
- Hypogonadotropic HypogonadismReads 37 of these genesDCAF17LEPRRBM28ANOS1CHD7FEZF1About this report →
- Cornelia de Lange SyndromeReads 6 of these genesBRD4HDAC8NIPBLRAD21SMC1ASMC3About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 11 of these genesRBM28HESX1CDONLHX4ROBO1FOXA2About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 9 of these genesCYP11A1NR5A1ARDHX37GATA4MAP3K1About this report →
Show 115 more reports
- Female InfertilityReads 12 of these genesBMP15PSMC3IPZSWIM7ATMBNC1FIGLAAbout this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 4 of these genesGHRIGFALSSTAT5BGHSRAbout this report →
- 46,XX Differences of Sex DevelopmentReads 3 of these genesNR5A1SRYSOX3About this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 2 of these genesSTAT1STAT3About this report →
- Wolfram Syndrome & WFS1 SpectrumReads 2 of these genesWFS1CISD2About this report →
- Glycogen Storage DiseaseReads 5 of these genesPYGLPHKA2PHKG2SLC37A4G6PC1About this report →
- Congenital Adrenal HyperplasiaReads 3 of these genesCYP11A1CYP17A1PORAbout this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 3 of these genesLEPRPCSK1POMCAbout this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Types A and B)Reads 1 of these genesSMPD1About this report →
- Androgen Insensitivity SyndromeReads 1 of these genesARAbout this report →
- Ataxia-TelangiectasiaReads 1 of these genesATMAbout this report →
- Campomelic DysplasiaReads 1 of these genesSOX9About this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- CystinosisReads 1 of these genesCTNSAbout this report →
- DCC-Related Mirror Movements and Agenesis of the Corpus CallosumReads 1 of these genesDCCAbout this report →
- DIAPH1-Related Microcephaly, Seizures and Cortical BlindnessReads 1 of these genesDIAPH1About this report →
- Fabry DiseaseReads 1 of these genesGLAAbout this report →
- Frontonasal Dysplasia with Alopecia and Genital Anomaly (ALX4)Reads 1 of these genesALX4About this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- Gitelman SyndromeReads 1 of these genesSLC12A3About this report →
- H SyndromeReads 1 of these genesSLC29A3About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- PNPLA6-Related Ataxia, Retinal Dystrophy and HypogonadismReads 1 of these genesPNPLA6About this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- POLR3B-Related DisorderReads 1 of these genesPOLR3BAbout this report →
- Polycystic Ovary SyndromeReads 1 of these genesFSHRAbout this report →
- Primrose SyndromeReads 1 of these genesZBTB20About this report →
- Restrictive Dermopathy (ZMPSTE24)Reads 1 of these genesZMPSTE24About this report →
- Sickle Cell DiseaseReads 1 of these genesHBBAbout this report →
- Spinal and Bulbar Muscular Atrophy (Kennedy Disease)Reads 1 of these genesARAbout this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- Townes-Brocks SyndromeReads 1 of these genesSALL1About this report →
- Ulnar-Mammary SyndromeReads 1 of these genesTBX3About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 5 of these genesRAB18RAB3GAP1RAB3GAP2TBC1D20OTX2About this report →
- Intellectual DisabilityReads 14 of these genesTAF13WDR11NONOVPS13BBRD4CTNNB1About this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 2 of these genesCYB5AHBBAbout this report →
- Hypertrophic CardiomyopathyReads 7 of these genesNR5A1DHX37MAP3K1SRYZFPM2BRAFAbout this report →
- Lissencephaly Spectrum DisordersReads 4 of these genesRAB18RAB3GAP1RAB3GAP2TBC1D20About this report →
- Diabetes MellitusReads 4 of these genesGATA4ZBTB20MT-TL1EIF2S3About this report →
- Hereditary Sideroblastic AnaemiasReads 2 of these genesPUS1YARS2About this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Dent Disease and Lowe SyndromeReads 1 of these genesOCRLAbout this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesALX4About this report →
- Familial Isolated Pituitary Adenoma (FIPA / X-LAG)Reads 1 of these genesAIPAbout this report →
- Hereditary Multiple OsteochondromasReads 1 of these genesEXT2About this report →
- Hereditary Wilms TumourReads 1 of these genesWT1About this report →
- Severe Inherited Insulin ResistanceReads 1 of these genesINSRAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesMAGEL2SNRPNAbout this report →
- Syndromic CraniosynostosisReads 3 of these genesFGFR1PORTCF12About this report →
- HyperinsulinismReads 2 of these genesINSRFOXA2About this report →
- LipodystrophyReads 2 of these genesLMNAZMPSTE24About this report →
- Congenital Diaphragmatic Hernia (Monogenic)Reads 1 of these genesZFPM2About this report →
- MedulloblastomaReads 1 of these genesGPR161About this report →
- Monogenic Precocious PubertyReads 1 of these genesMKRN3About this report →
- Tetralogy of FallotReads 1 of these genesZFPM2About this report →
- Lysosomal Storage DiseaseReads 4 of these genesGBA1GLASMPD1CTNSAbout this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesSOX11About this report →
- GalactosemiaReads 1 of these genesGALTAbout this report →
- NeurofibromatosisReads 1 of these genesNF1About this report →
- Inherited Neurodegenerative DisordersReads 9 of these genesDCAF17ATMPOLR3APOLR3BARENTPD1About this report →
- Bartter DiseaseReads 1 of these genesCLCNKBAbout this report →
- Chronic Mucocutaneous CandidiasisReads 1 of these genesSTAT1About this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesTGFB1About this report →
- ThalassaemiaReads 1 of these genesHBBAbout this report →
- Autoimmune DiseaseReads 2 of these genesSTAT1STAT3About this report →
- Noonan SyndromeReads 2 of these genesBRAFPTPN11About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 2 of these genesTRA2BZFXAbout this report →
- Hereditary Periodic Fever SyndromesReads 1 of these genesNLRP3About this report →
- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesTGFB1About this report →
- Loeys-Dietz SyndromeReads 1 of these genesTGFB2About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesPOLR3APOLR3BAbout this report →
- VitreoretinopathyReads 2 of these genesCTNNB1NDPAbout this report →
- Hyper-IgE SyndromeReads 1 of these genesSTAT3About this report →
- Waardenburg SyndromeReads 1 of these genesSOX10About this report →
- Familial Glucocorticoid DeficiencyReads 1 of these genesNR0B1About this report →
- Malignant Endocrine NeoplasmReads 1 of these genesMEN1About this report →
- Oculocutaneous AlbinismReads 1 of these genesOCA2About this report →
- PolycythemiaReads 1 of these genesHBBAbout this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 1 of these genesATMAbout this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesBTKAbout this report →
- Hereditary Macular DystrophiesReads 1 of these genesPRDM13About this report →
- Marfan Like SyndromesReads 1 of these genesTGFB2About this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 1 of these genesSTAT1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesDCAF17About this report →
- Hearing Loss and DeafnessReads 3 of these genesWFS1CDH23DIAPH1About this report →
- Congenital Disorders of GlycosylationReads 3 of these genesEXT2PGM1SLC37A4About this report →
- Usher SyndromeReads 1 of these genesCDH23About this report →
- Epilepsy (Full Panel)Reads 4 of these genesRNU2-2SCARB2WWOXSMC1AAbout this report →
- Coffin-Siris SyndromeReads 1 of these genesSOX11About this report →
- Dilated CardiomyopathyReads 2 of these genesLMNAPGM1About this report →
- Aortic AneurysmReads 1 of these genesTGFB2About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesGATA4About this report →
- Other Inborn Errors of ImmunityReads 4 of these genesBTKATMSTAT1STAT3About this report →
- Rare Hereditary Peripheral NeuropathiesReads 4 of these genesLMNAPOLR3BSMPD1RRM2BAbout this report →
- Parkinson DiseaseReads 1 of these genesGBA1About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesENTPD1PNPLA6About this report →
- Epidermolysis BullosaReads 1 of these genesCOL7A1About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesLMNAPOLR3BAbout this report →
- Other Inherited LeukodystrophiesReads 2 of these genesPOLR3APOLR3BAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesGATA4About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesPRDM13About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesWFS1About this report →
- Congenital Muscular DystrophiesReads 1 of these genesTRIP4About this report →
- Nephrotic SyndromeReads 1 of these genesNUP107About this report →
- Thyroid CancerReads 1 of these genesMEN1About this report →
- Inherited ThrombocytopeniasReads 1 of these genesDIAPH1About this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesLMNAAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesPOLR3AAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesLPIN2About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesMRPS22RRM2BAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesDCAF17About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesWWOXAbout this report →
Read the genes linked to Delayed puberty, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test199 genes linked to Delayed puberty
Changes in these genes cause rare conditions in which Delayed puberty 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 |
|---|---|---|
| BMP15bone morphogenetic protein 15 | Always | In 2 conditions |
| BTKBruton tyrosine kinase | Always | In 1 condition |
| DCAF17DDB1 and CUL4 associated factor 17 | Always | In 2 conditions |
| ESR1estrogen receptor 1 | Always | In 1 condition |
| FAM111BFAM111 trypsin like peptidase B | Always | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Always | In 1 condition |
| HROBhomologous recombination factor with OB-fold | Always | In 1 condition |
| LEPRleptin receptor | Always | In 1 condition |
| PRDM13PR/SET domain 13 | Always | In 1 condition |
| PSMC3IPPSMC3 interacting protein | Always | In 2 conditions |
| RBM28RNA binding motif protein 28 | Always | In 2 conditions |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| RNU6ATACRNA, U6atac small nuclear | Always | In 1 condition |
| SPIDRscaffold protein involved in DNA repair | Always | In 2 conditions |
| TAF13TATA-box binding protein associated factor 13 | Always | In 1 condition |
| TRA2Btransformer 2 beta homolog | Always | In 1 condition |
| ZSWIM7zinc finger SWIM-type containing 7 | Always | In 2 conditions |
| ANOS1anosmin 1 | Very often (80–99%) | In 1 condition |
| ATMATM serine/threonine kinase | Very often (80–99%) | In 2 conditions |
| BNC1basonuclin zinc finger protein 1 | Very often (80–99%) | In 1 condition |
| CCDC141coiled-coil domain containing 141 | Very often (80–99%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Very often (80–99%) | In 4 conditions |
| CYB5Acytochrome b5 type A | Very often (80–99%) | In 1 condition |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Very often (80–99%) | In 2 conditions |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Very often (80–99%) | In 2 conditions |
| DCCDCC netrin 1 receptor | Very often (80–99%) | In 1 condition |
| DUSP6dual specificity phosphatase 6 | Very often (80–99%) | In 2 conditions |
| EMX2empty spiracles homeobox 2 | Very often (80–99%) | In 2 conditions |
| FEZF1FEZ family zinc finger 1 | Very often (80–99%) | In 1 condition |
| FGF17fibroblast growth factor 17 | Very often (80–99%) | In 3 conditions |
| FGF8fibroblast growth factor 8 | Very often (80–99%) | In 3 conditions |
| FGFR1fibroblast growth factor receptor 1 | Very often (80–99%) | In 3 conditions |
| FIGLAfolliculogenesis specific bHLH transcription factor | Very often (80–99%) | In 1 condition |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Very often (80–99%) | In 2 conditions |
| FSHBfollicle stimulating hormone subunit beta | Very often (80–99%) | In 1 condition |
| FSHRfollicle stimulating hormone receptor | Very often (80–99%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Very often (80–99%) | In 2 conditions |
| HESX1HESX homeobox 1 | Very often (80–99%) | In 3 conditions |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Very often (80–99%) | In 2 conditions |
| IL17RDinterleukin 17 receptor D | Very often (80–99%) | In 1 condition |
Show 159 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| INSRinsulin receptor | Very often (80–99%) | In 1 condition |
| LMNAlamin A/C | Very often (80–99%) | In 1 condition |
| MRPS22mitochondrial ribosomal protein S22 | Very often (80–99%) | In 2 conditions |
| MSH4mutS homolog 4 | Very often (80–99%) | In 1 condition |
| NDNFneuron derived neurotrophic factor | Very often (80–99%) | In 1 condition |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Very often (80–99%) | In 2 conditions |
| NUP107nucleoporin 107 | Very often (80–99%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Very often (80–99%) | In 2 conditions |
| POLR3BRNA polymerase III subunit B | Very often (80–99%) | In 1 condition |
| POLR3HRNA polymerase III subunit H | Very often (80–99%) | In 1 condition |
| PROK2prokineticin 2 | Very often (80–99%) | In 2 conditions |
| PROKR2prokineticin receptor 2 | Very often (80–99%) | In 3 conditions |
| RAB18RAB18, member RAS oncogene family | Very often (80–99%) | In 1 condition |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Very often (80–99%) | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Very often (80–99%) | In 1 condition |
| SCARB2scavenger receptor class B member 2 | Very often (80–99%) | In 1 condition |
| SEMA3Asemaphorin 3A | Very often (80–99%) | In 1 condition |
| SEMA3Esemaphorin 3E | Very often (80–99%) | In 1 condition |
| SLC29A3solute carrier family 29 member 3 | Very often (80–99%) | In 1 condition |
| SOX10SRY-box transcription factor 10 | Very often (80–99%) | In 1 condition |
| SPRY4sprouty RTK signaling antagonist 4 | Very often (80–99%) | In 2 conditions |
| TACR3tachykinin receptor 3 | Very often (80–99%) | In 2 conditions |
| TBC1D20TBC1 domain family member 20 | Very often (80–99%) | In 1 condition |
| WDR11WD repeat domain 11 | Very often (80–99%) | In 3 conditions |
| ARandrogen receptor | Often (30–79%) | In 1 condition |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Often (30–79%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Often (30–79%) | In 1 condition |
| CPEcarboxypeptidase E | Often (30–79%) | In 1 condition |
| DHX37DEAH-box helicase 37 | Often (30–79%) | In 1 condition |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Often (30–79%) | In 2 conditions |
| GALTgalactose-1-phosphate uridylyltransferase | Often (30–79%) | In 1 condition |
| GATA4GATA binding protein 4 | Often (30–79%) | In 1 condition |
| GHRgrowth hormone receptor | Often (30–79%) | In 2 conditions |
| GLAgalactosidase alpha | Often (30–79%) | In 2 conditions |
| GNRH1gonadotropin releasing hormone 1 | Often (30–79%) | In 2 conditions |
| GNRHRgonadotropin releasing hormone receptor | Often (30–79%) | In 1 condition |
| GPR161G protein-coupled receptor 161 | Often (30–79%) | In 1 condition |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Often (30–79%) | In 1 condition |
| IGFALSinsulin like growth factor binding protein acid labile subunit | Often (30–79%) | In 2 conditions |
| KISS1KiSS-1 metastasis suppressor | Often (30–79%) | In 1 condition |
| KISS1RKISS1 receptor | Often (30–79%) | In 1 condition |
| LHX4LIM homeobox 4 | Often (30–79%) | In 2 conditions |
| LPIN2lipin 2 | Often (30–79%) | In 1 condition |
| MAGEL2MAGE family member L2 | Often (30–79%) | In 4 conditions |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Often (30–79%) | In 1 condition |
| MKRN3makorin ring finger protein 3 | Often (30–79%) | In 1 condition |
| NDNnecdin, MAGE family member | Often (30–79%) | In 3 conditions |
| NHLH2nescient helix-loop-helix 2 | Often (30–79%) | In 1 condition |
| NONOnon-POU domain containing octamer binding | Often (30–79%) | In 2 conditions |
| NPAP1nuclear pore associated protein 1 | Often (30–79%) | In 1 condition |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Often (30–79%) | In 3 conditions |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Often (30–79%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Often (30–79%) | In 3 conditions |
| POLR3GLRNA polymerase III subunit GL | Often (30–79%) | In 1 condition |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Often (30–79%) | In 2 conditions |
| PUS1pseudouridine synthase 1 | Often (30–79%) | In 2 conditions |
| PWAR1Prader Willi/Angelman region RNA 1 | Often (30–79%) | In 1 condition |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Often (30–79%) | In 1 condition |
| PYGLglycogen phosphorylase L | Often (30–79%) | In 1 condition |
| ROBO1roundabout guidance receptor 1 | Often (30–79%) | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Often (30–79%) | In 1 condition |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Often (30–79%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Often (30–79%) | In 3 conditions |
| SOX11SRY-box transcription factor 11 | Often (30–79%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Often (30–79%) | In 1 condition |
| SRYsex determining region Y | Often (30–79%) | In 2 conditions |
| STAT1signal transducer and activator of transcription 1 | Often (30–79%) | In 2 conditions |
| STAT5Bsignal transducer and activator of transcription 5B | Often (30–79%) | In 2 conditions |
| TAC3tachykinin precursor 3 | Often (30–79%) | In 1 condition |
| TBX3T-box transcription factor 3 | Often (30–79%) | In 2 conditions |
| TRMT10AtRNA methyltransferase 10A | Often (30–79%) | In 2 conditions |
| VAMP7vesicle associated membrane protein 7 | Often (30–79%) | In 1 condition |
| VPS13Bvacuolar protein sorting 13 homolog B | Often (30–79%) | In 2 conditions |
| WFS1wolframin ER transmembrane glycoprotein | Often (30–79%) | In 2 conditions |
| WT1WT1 transcription factor | Often (30–79%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Often (30–79%) | In 1 condition |
| YARS2tyrosyl-tRNA synthetase 2 | Often (30–79%) | In 1 condition |
| ZBTB20zinc finger and BTB domain containing 20 | Often (30–79%) | In 1 condition |
| ZFPM2zinc finger protein, FOG family member 2 | Often (30–79%) | In 1 condition |
| AIPAHR interacting HSP90 co-chaperone | Sometimes (5–29%) | In 1 condition |
| ALX4ALX homeobox 4 | Sometimes (5–29%) | In 1 condition |
| ATAD3AATPase family AAA domain containing 3A | Sometimes (5–29%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BRD4bromodomain containing 4 | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CDH23cadherin related 23 | Sometimes (5–29%) | In 2 conditions |
| CISD2CDGSH iron sulfur domain 2 | Sometimes (5–29%) | In 1 condition |
| CLCNKBchloride voltage-gated channel Kb | Sometimes (5–29%) | In 1 condition |
| COL7A1collagen type VII alpha 1 chain | Sometimes (5–29%) | In 2 conditions |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| DACT1dishevelled binding antagonist of beta catenin 1 | Sometimes (5–29%) | In 1 condition |
| DIAPH1diaphanous related formin 1 | Sometimes (5–29%) | In 1 condition |
| EIF5Aeukaryotic translation initiation factor 5A | Sometimes (5–29%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| FOXA2forkhead box A2 | Sometimes (5–29%) | In 1 condition |
| GHSRgrowth hormone secretagogue receptor | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| HBBhemoglobin subunit beta | Sometimes (5–29%) | In 2 conditions |
| HDAC8histone deacetylase 8 | Sometimes (5–29%) | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| MEN1menin 1 | Sometimes (5–29%) | In 1 condition |
| MMP1matrix metallopeptidase 1 | Sometimes (5–29%) | In 1 condition |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sometimes (5–29%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sometimes (5–29%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Sometimes (5–29%) | In 1 condition |
| NF1neurofibromin 1 | Sometimes (5–29%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 1 condition |
| NLRP3NLR family pyrin domain containing 3 | Sometimes (5–29%) | In 1 condition |
| NOTCH2notch receptor 2 | Sometimes (5–29%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sometimes (5–29%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Sometimes (5–29%) | In 1 condition |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Sometimes (5–29%) | In 1 condition |
| PGM1phosphoglucomutase 1 | Sometimes (5–29%) | In 1 condition |
| PHF21APHD finger protein 21A | Sometimes (5–29%) | In 1 condition |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sometimes (5–29%) | In 1 condition |
| POMCproopiomelanocortin | Sometimes (5–29%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Sometimes (5–29%) | In 1 condition |
| POU1F1POU class 1 homeobox 1 | Sometimes (5–29%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Sometimes (5–29%) | In 2 conditions |
| PTRH2peptidyl-tRNA hydrolase 2 | 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 |
| RPL10ribosomal protein L10 | Sometimes (5–29%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sometimes (5–29%) | In 1 condition |
| SALL1spalt like transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| SLC12A3solute carrier family 12 member 3 | Sometimes (5–29%) | In 2 conditions |
| SLC37A4solute carrier family 37 member 4 | Sometimes (5–29%) | In 3 conditions |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Sometimes (5–29%) | In 1 condition |
| SOX3SRY-box transcription factor 3 | Sometimes (5–29%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Sometimes (5–29%) | In 1 condition |
| TGFB1transforming growth factor beta 1 | Sometimes (5–29%) | In 2 conditions |
| TRIP4thyroid hormone receptor interactor 4 | Sometimes (5–29%) | In 1 condition |
| USP9Xubiquitin specific peptidase 9 X-linked | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Sometimes (5–29%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ALDOAaldolase, fructose-bisphosphate A | Not recorded | In 1 condition |
| CENPTcentromere protein T | Not recorded | In 1 condition |
| CTNScystinosin, lysosomal cystine transporter | Not recorded | In 1 condition |
| CUL4Bcullin 4B | Not recorded | In 1 condition |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Not recorded | In 1 condition |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Not recorded | In 1 condition |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Not recorded | In 1 condition |
| GMNNgeminin DNA replication inhibitor | Not recorded | In 1 condition |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Not recorded | In 1 condition |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Not recorded | In 1 condition |
| LGR4leucine rich repeat containing G protein-coupled receptor 4 | Not recorded | In 1 condition |
| LHBluteinizing hormone subunit beta | Not recorded | In 1 condition |
| MSMO1methylsterol monooxygenase 1 | Not recorded | In 1 condition |
| PHF6PHD finger protein 6 | Not recorded | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Not recorded | In 1 condition |
| POF1BPOF1B actin binding protein | Not recorded | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Not recorded | In 1 condition |
| TCF12transcription factor 12 | Not recorded | In 1 condition |
| TGFB2transforming growth factor beta 2 | 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-e609d43e.
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