Trait
Delayed bone maturation
Clinical name: Delayed skeletal maturation
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Summary
- Also called
- Delayed skeletal development, Delayed bone age, Delayed bone age before puberty
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Delayed bone maturation 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 |
|---|---|---|
| ANKRD11ankyrin repeat domain 11 | Always | In 2 conditions |
| BMPR1Bbone morphogenetic protein receptor type 1B | Always | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Always | In 3 conditions |
| BRD4bromodomain containing 4 | Always | In 2 conditions |
| BTKBruton tyrosine kinase | Always | In 1 condition |
| CDC6cell division cycle 6 | Always | In 2 conditions |
| CEP57centrosomal protein 57 | Always | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Always | In 1 condition |
| COX4I1cytochrome c oxidase subunit 4I1 | Always | In 1 condition |
| CUL7cullin 7 | Always | In 2 conditions |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Always | In 2 conditions |
| DNA2DNA replication helicase/nuclease 2 | Always | In 2 conditions |
| DONSONDNA replication fork stabilization factor DONSON | Always | In 2 conditions |
| ERI1exoribonuclease 1 | Always | In 1 condition |
| ESR1estrogen receptor 1 | Always | In 1 condition |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Always | In 1 condition |
| FBN1fibrillin 1 | Always | In 6 conditions |
| FOXE1forkhead box E1 | Always | In 1 condition |
| GET4guided entry of tail-anchored proteins factor 4 | Always | In 1 condition |
| GHRgrowth hormone receptor | Always | In 3 conditions |
| GLI2GLI family zinc finger 2 | Always | In 2 conditions |
| GMNNgeminin DNA replication inhibitor | Always | In 2 conditions |
| HMGA2high mobility group AT-hook 2 | Always | In 1 condition |
| IGF1insulin like growth factor 1 | Always | In 2 conditions |
| ITCHitchy E3 ubiquitin protein ligase | Always | In 1 condition |
| KARS1lysyl-tRNA synthetase 1 | Always | In 1 condition |
| LPIN2lipin 2 | Always | In 1 condition |
| MALT1MALT1 paracaspase | Always | In 1 condition |
| MCM9minichromosome maintenance 9 homologous recombination repair factor | Always | In 1 condition |
| MSMO1methylsterol monooxygenase 1 | Always | In 1 condition |
| NINninein | Always | In 3 conditions |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Always | In 1 condition |
| OBSL1obscurin like cytoskeletal adaptor 1 | Always | In 2 conditions |
| ORC1origin recognition complex subunit 1 | Always | In 2 conditions |
| ORC4origin recognition complex subunit 4 | Always | In 2 conditions |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Always | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Always | In 2 conditions |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Always | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Always | In 2 conditions |
| PPOXprotoporphyrinogen oxidase | Always | In 1 condition |
Show 327 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Always | In 2 conditions |
| PRKG2protein kinase cGMP-dependent 2 | Always | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Always | In 2 conditions |
| RBSNrabenosyn, RAB effector | Always | In 2 conditions |
| RNPC3RNA binding region (RNP1, RRM) containing 3 | Always | In 1 condition |
| RSPRY1ring finger and SPRY domain containing 1 | Always | In 2 conditions |
| SLC30A7solute carrier family 30 member 7 | Always | In 1 condition |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Always | In 2 conditions |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Always | In 2 conditions |
| SPIDRscaffold protein involved in DNA repair | Always | In 2 conditions |
| SPRTNSprT-like N-terminal domain | Always | In 1 condition |
| TAF13TATA-box binding protein associated factor 13 | Always | In 1 condition |
| TAF4TATA-box binding protein associated factor 4 | Always | In 1 condition |
| TBCKTBC1 domain containing kinase | Always | In 2 conditions |
| TMEM67transmembrane protein 67 | Always | In 2 conditions |
| UFSP2UFM1 specific peptidase 2 | Always | In 1 condition |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Always | In 1 condition |
| ADAMTSL2ADAMTS like 2 | Very often (80–99%) | In 2 conditions |
| AHSGalpha 2-HS glycoprotein | Very often (80–99%) | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Very often (80–99%) | In 2 conditions |
| ATRATR checkpoint kinase | Very often (80–99%) | In 2 conditions |
| ATRIPATR interacting protein | Very often (80–99%) | In 1 condition |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Very often (80–99%) | In 1 condition |
| CDC45cell division cycle 45 | Very often (80–99%) | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Very often (80–99%) | In 1 condition |
| CDT1chromatin licensing and DNA replication factor 1 | Very often (80–99%) | In 2 conditions |
| CENPEcentromere protein E | Very often (80–99%) | In 1 condition |
| CEP152centrosomal protein 152 | Very often (80–99%) | In 2 conditions |
| CEP295centrosomal protein 295 | Very often (80–99%) | In 1 condition |
| CEP63centrosomal protein 63 | Very often (80–99%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Very often (80–99%) | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Very often (80–99%) | In 3 conditions |
| CPAPcentrosome assembly and centriole elongation protein | Very often (80–99%) | In 1 condition |
| 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 |
| DCAF17DDB1 and CUL4 associated factor 17 | 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 |
| EXT1exostosin glycosyltransferase 1 | Very often (80–99%) | In 1 condition |
| FGF17fibroblast growth factor 17 | Very often (80–99%) | In 2 conditions |
| FGF8fibroblast growth factor 8 | Very often (80–99%) | In 3 conditions |
| FGFR1fibroblast growth factor receptor 1 | Very often (80–99%) | In 3 conditions |
| FSHBfollicle stimulating hormone subunit beta | Very often (80–99%) | In 2 conditions |
| GBA1glucosylceramidase beta 1 | Very often (80–99%) | In 2 conditions |
| GHSRgrowth hormone secretagogue receptor | Very often (80–99%) | In 2 conditions |
| GNRH1gonadotropin releasing hormone 1 | Very often (80–99%) | In 1 condition |
| GNRHRgonadotropin releasing hormone receptor | Very often (80–99%) | In 1 condition |
| GPX4glutathione peroxidase 4 | Very often (80–99%) | In 1 condition |
| GRB10growth factor receptor bound protein 10 | Very often (80–99%) | In 1 condition |
| H19H19 imprinted maternally expressed transcript | Very often (80–99%) | In 2 conditions |
| HDAC8histone deacetylase 8 | Very often (80–99%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Very often (80–99%) | In 2 conditions |
| IGF1Rinsulin like growth factor 1 receptor | Very often (80–99%) | In 2 conditions |
| IGF2insulin like growth factor 2 | Very often (80–99%) | In 4 conditions |
| IHHIndian hedgehog signaling molecule | Very often (80–99%) | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Very often (80–99%) | In 1 condition |
| ITGB6integrin subunit beta 6 | Very often (80–99%) | In 1 condition |
| KISS1KiSS-1 metastasis suppressor | Very often (80–99%) | In 2 conditions |
| KISS1RKISS1 receptor | Very often (80–99%) | In 2 conditions |
| LONP1lon peptidase 1, mitochondrial | Very often (80–99%) | In 2 conditions |
| LSSlanosterol synthase | Very often (80–99%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Very often (80–99%) | In 2 conditions |
| MECP2methyl-CpG binding protein 2 | Very often (80–99%) | In 1 condition |
| MMP13matrix metallopeptidase 13 | Very often (80–99%) | In 2 conditions |
| MVKmevalonate kinase | Very often (80–99%) | In 1 condition |
| NEU1neuraminidase 1 | Very often (80–99%) | In 1 condition |
| NHLH2nescient helix-loop-helix 2 | Very often (80–99%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Very often (80–99%) | In 2 conditions |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Very often (80–99%) | In 1 condition |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Very often (80–99%) | In 1 condition |
| NUP85nucleoporin 85 | Very often (80–99%) | In 1 condition |
| ORC6origin recognition complex subunit 6 | Very often (80–99%) | In 2 conditions |
| PCNTpericentrin | Very often (80–99%) | In 3 conditions |
| PLK4polo like kinase 4 | Very often (80–99%) | In 1 condition |
| POLA1DNA polymerase alpha 1, catalytic subunit | Very often (80–99%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Very often (80–99%) | In 2 conditions |
| PROK2prokineticin 2 | Very often (80–99%) | In 2 conditions |
| PROKR2prokineticin receptor 2 | Very often (80–99%) | In 2 conditions |
| RAD21RAD21 cohesin complex component | Very often (80–99%) | In 2 conditions |
| RBBP8RB binding protein 8, endonuclease | Very often (80–99%) | In 1 condition |
| RNU12RNA, U12 small nuclear | Very often (80–99%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 3 conditions |
| RPS6KA3ribosomal protein S6 kinase A3 | Very often (80–99%) | In 2 conditions |
| SCARB2scavenger receptor class B member 2 | Very often (80–99%) | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Very often (80–99%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Very often (80–99%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Very often (80–99%) | In 1 condition |
| SPRY4sprouty RTK signaling antagonist 4 | Very often (80–99%) | In 2 conditions |
| SRCAPSnf2 related CREBBP activator protein | Very often (80–99%) | In 2 conditions |
| STAT1signal transducer and activator of transcription 1 | Very often (80–99%) | In 1 condition |
| TAC3tachykinin precursor 3 | Very often (80–99%) | In 1 condition |
| TACR3tachykinin receptor 3 | Very often (80–99%) | In 2 conditions |
| TBC1D7TBC1 domain family member 7 | Very often (80–99%) | In 1 condition |
| TBCEtubulin folding cofactor E | Very often (80–99%) | In 4 conditions |
| TRAIPTRAF interacting protein | Very often (80–99%) | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Very often (80–99%) | In 3 conditions |
| WDR11WD repeat domain 11 | Very often (80–99%) | In 3 conditions |
| ABCC9ATP binding cassette subfamily C member 9 | Often (30–79%) | In 2 conditions |
| ABCD4ATP binding cassette subfamily D member 4 | Often (30–79%) | In 1 condition |
| ARID1AAT-rich interaction domain 1A | Often (30–79%) | In 2 conditions |
| ARID1BAT-rich interaction domain 1B | Often (30–79%) | In 2 conditions |
| ARID2AT-rich interaction domain 2 | Often (30–79%) | In 2 conditions |
| BMP15bone morphogenetic protein 15 | Often (30–79%) | In 1 condition |
| BNC1basonuclin zinc finger protein 1 | Often (30–79%) | In 1 condition |
| BRF1BRF1 general transcription factor IIIB subunit | Often (30–79%) | In 2 conditions |
| CBLCbl proto-oncogene | Often (30–79%) | In 1 condition |
| CDK4cyclin dependent kinase 4 | Often (30–79%) | In 1 condition |
| CHP1calcineurin like EF-hand protein 1 | Often (30–79%) | In 1 condition |
| CKAP2Lcytoskeleton associated protein 2L | Often (30–79%) | In 1 condition |
| COX4I2cytochrome c oxidase subunit 4I2 | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 2 conditions |
| CREBBPCREB binding lysine acetyltransferase | Often (30–79%) | In 2 conditions |
| CTBP1C-terminal binding protein 1 | Often (30–79%) | In 2 conditions |
| DCCDCC netrin 1 receptor | Often (30–79%) | In 2 conditions |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Often (30–79%) | In 2 conditions |
| DPF2double PHD fingers 2 | Often (30–79%) | In 1 condition |
| EFL1elongation factor like GTPase 1 | Often (30–79%) | In 1 condition |
| FAM111AFAM111 trypsin like peptidase A | Often (30–79%) | In 1 condition |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Often (30–79%) | In 1 condition |
| FIGLAfolliculogenesis specific bHLH transcription factor | Often (30–79%) | In 1 condition |
| FMR1fragile X messenger ribonucleoprotein 1 | Often (30–79%) | In 1 condition |
| FSHRfollicle stimulating hormone receptor | Often (30–79%) | In 1 condition |
| GDF5growth differentiation factor 5 | Often (30–79%) | In 2 conditions |
| GINS3GINS complex subunit 3 | Often (30–79%) | In 1 condition |
| GTF2E2general transcription factor IIE subunit 2 | Often (30–79%) | In 2 conditions |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Often (30–79%) | In 1 condition |
| KMT2Alysine methyltransferase 2A | Often (30–79%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 3 conditions |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 2 conditions |
| LTBP3latent transforming growth factor beta binding protein 3 | Often (30–79%) | In 4 conditions |
| LZTR1leucine zipper like post translational regulator 1 | Often (30–79%) | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Often (30–79%) | In 1 condition |
| MRASmuscle RAS oncogene homolog | Often (30–79%) | In 1 condition |
| MRPS22mitochondrial ribosomal protein S22 | Often (30–79%) | In 2 conditions |
| MSH4mutS homolog 4 | Often (30–79%) | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Often (30–79%) | In 2 conditions |
| NBASNBAS subunit of NRZ tethering complex | Often (30–79%) | In 1 condition |
| NELFAnegative elongation factor complex member A | Often (30–79%) | In 1 condition |
| NFE2L2NFE2 like bZIP transcription factor 2 | Often (30–79%) | In 1 condition |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Often (30–79%) | In 2 conditions |
| NRASNRAS proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Often (30–79%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Often (30–79%) | In 2 conditions |
| NUP107nucleoporin 107 | Often (30–79%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Often (30–79%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | In 1 condition |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Often (30–79%) | In 2 conditions |
| POLR3HRNA polymerase III subunit H | Often (30–79%) | In 1 condition |
| POU3F4POU class 3 homeobox 4 | Often (30–79%) | In 1 condition |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Often (30–79%) | In 1 condition |
| PSMC3IPPSMC3 interacting protein | Often (30–79%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Often (30–79%) | In 1 condition |
| QRICH1glutamine rich 1 | Often (30–79%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| RASA2RAS p21 protein activator 2 | Often (30–79%) | In 1 condition |
| RBM28RNA binding motif protein 28 | Often (30–79%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Often (30–79%) | In 1 condition |
| RNF13ring finger protein 13 | Often (30–79%) | In 2 conditions |
| ROBO3roundabout guidance receptor 3 | Often (30–79%) | In 1 condition |
| RRASRAS related | Often (30–79%) | In 1 condition |
| RRAS2RAS related 2 | Often (30–79%) | In 1 condition |
| SBDSSBDS ribosome maturation factor | Often (30–79%) | In 2 conditions |
| SECISBP2SECIS binding protein 2 | Often (30–79%) | In 2 conditions |
| SLC7A7solute carrier family 7 member 7 | Often (30–79%) | In 2 conditions |
| SMAD4SMAD family member 4 | Often (30–79%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 3 conditions |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Often (30–79%) | In 2 conditions |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Often (30–79%) | In 1 condition |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Often (30–79%) | In 1 condition |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Often (30–79%) | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Often (30–79%) | In 2 conditions |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Often (30–79%) | In 1 condition |
| SOX11SRY-box transcription factor 11 | Often (30–79%) | In 1 condition |
| SOX4SRY-box transcription factor 4 | Often (30–79%) | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Often (30–79%) | In 1 condition |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Often (30–79%) | In 1 condition |
| THRBthyroid hormone receptor beta | Often (30–79%) | In 1 condition |
| TP53tumor protein p53 | Often (30–79%) | In 1 condition |
| TRHRthyrotropin releasing hormone receptor | Often (30–79%) | In 2 conditions |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Often (30–79%) | In 2 conditions |
| TSHBthyroid stimulating hormone subunit beta | Often (30–79%) | In 1 condition |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Often (30–79%) | In 2 conditions |
| ZSWIM7zinc finger SWIM-type containing 7 | Often (30–79%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Sometimes (5–29%) | In 1 condition |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Sometimes (5–29%) | In 1 condition |
| AGAaspartylglucosaminidase | Sometimes (5–29%) | In 2 conditions |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ANAPC1anaphase promoting complex subunit 1 | Sometimes (5–29%) | In 2 conditions |
| ANKRD17ankyrin repeat domain 17 | Sometimes (5–29%) | In 1 condition |
| ANOS1anosmin 1 | Sometimes (5–29%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sometimes (5–29%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CCDC141coiled-coil domain containing 141 | Sometimes (5–29%) | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Sometimes (5–29%) | In 2 conditions |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| DDB2damage specific DNA binding protein 2 | Sometimes (5–29%) | In 1 condition |
| DHX37DEAH-box helicase 37 | Sometimes (5–29%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| DPP6dipeptidyl peptidase like 6 | Sometimes (5–29%) | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 2 conditions |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 2 conditions |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC5ERCC excision repair 5, endonuclease | Sometimes (5–29%) | In 1 condition |
| EVCEvC ciliary complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| EVC2EvC ciliary complex subunit 2 | Sometimes (5–29%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| FEZF1FEZ family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
| FLNBfilamin B | Sometimes (5–29%) | In 2 conditions |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Sometimes (5–29%) | In 1 condition |
| FOXA2forkhead box A2 | Sometimes (5–29%) | In 1 condition |
| FOXP2forkhead box P2 | Sometimes (5–29%) | In 1 condition |
| GATA4GATA binding protein 4 | Sometimes (5–29%) | In 1 condition |
| GLI1GLI family zinc finger 1 | 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 |
| HESX1HESX homeobox 1 | Sometimes (5–29%) | In 2 conditions |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 2 conditions |
| IL17RDinterleukin 17 receptor D | Sometimes (5–29%) | In 1 condition |
| INSRinsulin receptor | Sometimes (5–29%) | In 2 conditions |
| KIF15kinesin family member 15 | Sometimes (5–29%) | In 1 condition |
| LHX4LIM homeobox 4 | Sometimes (5–29%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| LTBP2latent transforming growth factor beta binding protein 2 | Sometimes (5–29%) | In 1 condition |
| MADDMAP kinase activating death domain | Sometimes (5–29%) | In 1 condition |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Sometimes (5–29%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sometimes (5–29%) | In 1 condition |
| METTL27methyltransferase like 27 | Sometimes (5–29%) | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | 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 |
| MYH3myosin heavy chain 3 | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| NDNFneuron derived neurotrophic factor | Sometimes (5–29%) | In 1 condition |
| NGLY1N-glycanase 1 | Sometimes (5–29%) | In 1 condition |
| NPR2natriuretic peptide receptor 2 | Sometimes (5–29%) | In 1 condition |
| NR0B1nuclear receptor subfamily 0 group B member 1 | 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 |
| PEX1peroxisomal biogenesis factor 1 | Sometimes (5–29%) | In 2 conditions |
| PEX6peroxisomal biogenesis factor 6 | Sometimes (5–29%) | In 1 condition |
| POMCproopiomelanocortin | Sometimes (5–29%) | In 1 condition |
| POU1F1POU class 1 homeobox 1 | Sometimes (5–29%) | In 1 condition |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Sometimes (5–29%) | In 1 condition |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Sometimes (5–29%) | In 2 conditions |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sometimes (5–29%) | In 1 condition |
| SEMA3Asemaphorin 3A | Sometimes (5–29%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Sometimes (5–29%) | In 2 conditions |
| SIN3BSIN3 transcription regulator family member B | Sometimes (5–29%) | In 1 condition |
| SLC29A3solute carrier family 29 member 3 | Sometimes (5–29%) | In 1 condition |
| SOX10SRY-box transcription factor 10 | Sometimes (5–29%) | In 1 condition |
| SOX3SRY-box transcription factor 3 | Sometimes (5–29%) | In 2 conditions |
| SOX9SRY-box transcription factor 9 | Sometimes (5–29%) | In 1 condition |
| SRYsex determining region Y | Sometimes (5–29%) | In 2 conditions |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| TBL2transducin beta like 2 | Sometimes (5–29%) | In 1 condition |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Sometimes (5–29%) | In 1 condition |
| VAMP7vesicle associated membrane protein 7 | Sometimes (5–29%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| WT1WT1 transcription factor | Sometimes (5–29%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Sometimes (5–29%) | In 1 condition |
| XPAXPA, DNA damage recognition and repair factor | Sometimes (5–29%) | In 1 condition |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Sometimes (5–29%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Sometimes (5–29%) | In 2 conditions |
| ZFPM2zinc finger protein, FOG family member 2 | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| ACVR1activin A receptor type 1 | Rarely (1–4%) | In 1 condition |
| CTNScystinosin, lysosomal cystine transporter | Rarely (1–4%) | In 2 conditions |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Rarely (1–4%) | In 1 condition |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Rarely (1–4%) | In 1 condition |
| ACANaggrecan | Not recorded | In 1 condition |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Not recorded | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Not recorded | In 2 conditions |
| ATRXATRX chromatin remodeler | Not recorded | In 1 condition |
| BMP2bone morphogenetic protein 2 | Not recorded | In 1 condition |
| CCBE1collagen and calcium binding EGF domains 1 | Not recorded | In 1 condition |
| CD96CD96 molecule | Not recorded | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Not recorded | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Not recorded | In 1 condition |
| EP300EP300 lysine acetyltransferase | Not recorded | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Not recorded | In 1 condition |
| GH1growth hormone 1 | Not recorded | In 2 conditions |
| GHRHRgrowth hormone releasing hormone receptor | Not recorded | In 1 condition |
| GJA1gap junction protein alpha 1 | Not recorded | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Not recorded | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Not recorded | In 1 condition |
| IFT57intraflagellar transport 57 | Not recorded | In 1 condition |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Not recorded | In 1 condition |
| LGR4leucine rich repeat containing G protein-coupled receptor 4 | Not recorded | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Not recorded | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Not recorded | In 1 condition |
| PAM16presequence translocase associated motor 16 | Not recorded | In 1 condition |
| PAX8paired box 8 | Not recorded | In 1 condition |
| PCGF2polycomb group ring finger 2 | Not recorded | In 1 condition |
| POP1POP1 ribonuclease P/MRP subunit | Not recorded | In 1 condition |
| ROR2ROR family WNT receptor 2 | Not recorded | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Not recorded | In 1 condition |
| SOHLH1spermatogenesis and oogenesis specific basic helix-loop-helix 1 | Not recorded | In 1 condition |
| SRP54signal recognition particle 54 | Not recorded | In 1 condition |
| STAT5Bsignal transducer and activator of transcription 5B | Not recorded | In 1 condition |
| THRAthyroid hormone receptor alpha | Not recorded | In 1 condition |
| TONSLtonsoku like, DNA repair protein | Not recorded | In 1 condition |
| WNT5AWnt family member 5A | 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 2026.10.16-c6eea6bf.
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