Trait
Short neck
Diminished length of the neck.
Summary
- Also called
- Decreased length of neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Short neck, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test414 genes linked to Short neck
Changes in these genes cause rare conditions in which Short neck 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 |
|---|---|---|
| ACANaggrecan | Always | In 2 conditions |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Always | In 3 conditions |
| AMMECR1AMMECR nuclear protein 1 | Always | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Always | In 5 conditions |
| BRF1BRF1 general transcription factor IIIB subunit | Always | In 2 conditions |
| COG1component of oligomeric golgi complex 1 | Always | In 2 conditions |
| COG7component of oligomeric golgi complex 7 | Always | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Always | In 7 conditions |
| CUL7cullin 7 | Always | In 2 conditions |
| DDRGK1DDRGK domain containing 1 | Always | In 2 conditions |
| DMRT2doublesex and mab-3 related transcription factor 2 | Always | In 1 condition |
| DONSONDNA replication fork stabilization factor DONSON | Always | In 2 conditions |
| DYMdymeclin | Always | In 3 conditions |
| ECEL1endothelin converting enzyme like 1 | Always | In 1 condition |
| FANCIFA complementation group I | Always | In 1 condition |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Always | In 2 conditions |
| FGFR3fibroblast growth factor receptor 3 | Always | In 1 condition |
| FHL1four and a half LIM domains 1 | Always | In 3 conditions |
| FLNAfilamin A | Always | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Always | In 1 condition |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Always | In 1 condition |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Always | In 1 condition |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Always | In 1 condition |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Always | In 1 condition |
| HYAL2hyaluronidase 2 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 2 conditions |
| IGBP1immunoglobulin binding protein 1 | Always | In 2 conditions |
| IL6STinterleukin 6 cytokine family signal transducer | Always | In 1 condition |
| INTUinturned planar cell polarity protein | Always | In 2 conditions |
| KIF7kinesin family member 7 | Always | In 1 condition |
| LAMA5laminin subunit alpha 5 | Always | In 1 condition |
| MRPL12mitochondrial ribosomal protein L12 | Always | In 1 condition |
| MRPS28mitochondrial ribosomal protein S28 | Always | In 1 condition |
| MYH3myosin heavy chain 3 | Always | In 5 conditions |
| NEK9NIMA related kinase 9 | Always | In 1 condition |
| NKX3-2NK3 homeobox 2 | Always | In 1 condition |
| NLRP1NLR family pyrin domain containing 1 | Always | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Always | In 1 condition |
| NUP188nucleoporin 188 | Always | In 1 condition |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Always | In 1 condition |
Show 374 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PALB2partner and localizer of BRCA2 | Always | In 1 condition |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Always | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Always | In 1 condition |
| PRMT7protein arginine methyltransferase 7 | Always | In 2 conditions |
| RAB33BRAB33B, member RAS oncogene family | Always | In 1 condition |
| RAB5IFRAB5 interacting factor | Always | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Always | In 2 conditions |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Always | In 2 conditions |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Always | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Always | In 1 condition |
| TBX15T-box transcription factor 15 | Always | In 2 conditions |
| TBX5T-box transcription factor 5 | Always | In 1 condition |
| TECPR2tectonin beta-propeller repeat containing 2 | Always | In 2 conditions |
| TIMM50translocase of inner mitochondrial membrane 50 | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Always | In 2 conditions |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Always | In 4 conditions |
| TXNDC15thioredoxin domain containing 15 | Always | In 1 condition |
| WDR35WD repeat domain 35 | Always | In 1 condition |
| ANTXR2ANTXR cell adhesion molecule 2 | Very often (80–99%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Very often (80–99%) | In 2 conditions |
| BMPERBMP binding endothelial regulator | Very often (80–99%) | In 2 conditions |
| BRD4bromodomain containing 4 | Very often (80–99%) | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Very often (80–99%) | In 2 conditions |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Very often (80–99%) | In 2 conditions |
| CD96CD96 molecule | Very often (80–99%) | In 1 condition |
| CDH11cadherin 11 | Very often (80–99%) | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Very often (80–99%) | In 2 conditions |
| COL11A2collagen type XI alpha 2 chain | Very often (80–99%) | In 2 conditions |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Very often (80–99%) | In 1 condition |
| CUL4Bcullin 4B | Very often (80–99%) | In 1 condition |
| DLL3delta like canonical Notch ligand 3 | Very often (80–99%) | In 2 conditions |
| FAM20CFAM20C golgi associated secretory pathway kinase | Very often (80–99%) | In 2 conditions |
| GDF3growth differentiation factor 3 | Very often (80–99%) | In 1 condition |
| GDF6growth differentiation factor 6 | Very often (80–99%) | In 2 conditions |
| HDAC8histone deacetylase 8 | Very often (80–99%) | In 2 conditions |
| HES7hes family bHLH transcription factor 7 | Very often (80–99%) | In 2 conditions |
| HNF1BHNF1 homeobox B | Very often (80–99%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Very often (80–99%) | In 2 conditions |
| IDUAalpha-L-iduronidase | Very often (80–99%) | In 3 conditions |
| INPPL1inositol polyphosphate phosphatase like 1 | Very often (80–99%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 4 conditions |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Very often (80–99%) | In 1 condition |
| LHX3LIM homeobox 3 | Very often (80–99%) | In 3 conditions |
| MAU2MAU2 sister chromatid cohesion factor | Very often (80–99%) | In 1 condition |
| MEOX1mesenchyme homeobox 1 | Very often (80–99%) | In 2 conditions |
| MESP2mesoderm posterior bHLH transcription factor 2 | Very often (80–99%) | In 3 conditions |
| NALCNsodium leak channel, non-selective | Very often (80–99%) | In 3 conditions |
| NBASNBAS subunit of NRZ tethering complex | Very often (80–99%) | In 1 condition |
| NBNnibrin | Very often (80–99%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Very often (80–99%) | In 2 conditions |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Very often (80–99%) | In 1 condition |
| OBSL1obscurin like cytoskeletal adaptor 1 | Very often (80–99%) | In 2 conditions |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Very often (80–99%) | In 2 conditions |
| PSAT1phosphoserine aminotransferase 1 | Very often (80–99%) | In 2 conditions |
| PTCH1patched 1 | Very often (80–99%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Very often (80–99%) | In 1 condition |
| RIPPLY2ripply transcriptional repressor 2 | Very often (80–99%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Very often (80–99%) | In 2 conditions |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 2 conditions |
| RSPRY1ring finger and SPRY domain containing 1 | Very often (80–99%) | In 2 conditions |
| SCYL2SCY1 like pseudokinase 2 | Very often (80–99%) | In 1 condition |
| SHOXSHOX homeobox | Very often (80–99%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Very often (80–99%) | In 3 conditions |
| SLC35D1solute carrier family 35 member D1 | Very often (80–99%) | In 2 conditions |
| SMC1Astructural maintenance of chromosomes 1A | Very often (80–99%) | In 2 conditions |
| SMC3structural maintenance of chromosomes 3 | Very often (80–99%) | In 2 conditions |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Very often (80–99%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Very often (80–99%) | In 1 condition |
| TBC1D7TBC1 domain family member 7 | Very often (80–99%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Very often (80–99%) | In 2 conditions |
| TBR1T-box brain transcription factor 1 | Very often (80–99%) | In 1 condition |
| TBX6T-box transcription factor 6 | Very often (80–99%) | In 3 conditions |
| TCF4transcription factor 4 | Very often (80–99%) | In 2 conditions |
| TMCO1transmembrane and coiled-coil domains 1 | Very often (80–99%) | In 2 conditions |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Very often (80–99%) | In 2 conditions |
| WNT4Wnt family member 4 | Very often (80–99%) | In 2 conditions |
| XYLT1xylosyltransferase 1 | Very often (80–99%) | In 2 conditions |
| XYLT2xylosyltransferase 2 | Very often (80–99%) | In 1 condition |
| ABCC9ATP binding cassette subfamily C member 9 | Often (30–79%) | In 2 conditions |
| ACTBactin beta | Often (30–79%) | In 2 conditions |
| ACTG1actin gamma 1 | Often (30–79%) | In 2 conditions |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Often (30–79%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Often (30–79%) | In 2 conditions |
| ARVCFARVCF delta catenin family member | Often (30–79%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Often (30–79%) | In 2 conditions |
| BBS2Bardet-Biedl syndrome 2 | Often (30–79%) | In 2 conditions |
| BPTFbromodomain PHD finger transcription factor | Often (30–79%) | In 1 condition |
| C2CD3C2 domain containing 3 centriole elongation regulator | Often (30–79%) | In 1 condition |
| CBLCbl proto-oncogene | Often (30–79%) | In 1 condition |
| CHRNGcholinergic receptor nicotinic gamma subunit | Often (30–79%) | In 1 condition |
| CLDN11claudin 11 | Often (30–79%) | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Often (30–79%) | In 1 condition |
| COG8component of oligomeric golgi complex 8 | Often (30–79%) | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Often (30–79%) | In 1 condition |
| COL6A1collagen type VI alpha 1 chain | Often (30–79%) | In 1 condition |
| COL6A2collagen type VI alpha 2 chain | Often (30–79%) | In 2 conditions |
| COL6A3collagen type VI alpha 3 chain | Often (30–79%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Often (30–79%) | In 1 condition |
| CTNND2catenin delta 2 | Often (30–79%) | In 1 condition |
| DCCDCC netrin 1 receptor | Often (30–79%) | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | Often (30–79%) | In 1 condition |
| DDX3XDEAD-box helicase 3 X-linked | Often (30–79%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Often (30–79%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Often (30–79%) | In 1 condition |
| EMDemerin | Often (30–79%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Often (30–79%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Often (30–79%) | In 1 condition |
| ERCC5ERCC excision repair 5, endonuclease | Often (30–79%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Often (30–79%) | In 1 condition |
| FAAP100FA core complex associated protein 100 | Often (30–79%) | In 1 condition |
| FANCBFA complementation group B | Often (30–79%) | In 1 condition |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Often (30–79%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Often (30–79%) | In 1 condition |
| GATA4GATA binding protein 4 | Often (30–79%) | In 1 condition |
| GLE1GLE1 RNA export mediator | Often (30–79%) | In 2 conditions |
| GNASGNAS complex locus | Often (30–79%) | In 6 conditions |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Often (30–79%) | In 1 condition |
| GNSglucosamine (N-acetyl)-6-sulfatase | Often (30–79%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Often (30–79%) | In 1 condition |
| GPC3glypican 3 | Often (30–79%) | In 1 condition |
| GPC4glypican 4 | Often (30–79%) | In 1 condition |
| GPKOWG-patch domain and KOW motifs | Often (30–79%) | In 1 condition |
| GUSBglucuronidase beta | Often (30–79%) | In 2 conditions |
| HBA1hemoglobin subunit alpha 1 | Often (30–79%) | In 1 condition |
| HBA2hemoglobin subunit alpha 2 | Often (30–79%) | In 1 condition |
| HIRAhistone cell cycle regulator | Often (30–79%) | In 1 condition |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Often (30–79%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Often (30–79%) | In 3 conditions |
| INTS1integrator complex subunit 1 | Often (30–79%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Often (30–79%) | In 1 condition |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Often (30–79%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Often (30–79%) | In 2 conditions |
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 4 conditions |
| MAP2K2mitogen-activated protein kinase kinase 2 | Often (30–79%) | In 2 conditions |
| MAPK1mitogen-activated protein kinase 1 | Often (30–79%) | In 1 condition |
| MEG3maternally expressed 3 | Often (30–79%) | In 1 condition |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Often (30–79%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Often (30–79%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Often (30–79%) | In 1 condition |
| NOTCH2notch receptor 2 | Often (30–79%) | In 2 conditions |
| NOTCH3notch receptor 3 | Often (30–79%) | In 2 conditions |
| NSD1nuclear receptor binding SET domain protein 1 | Often (30–79%) | In 1 condition |
| NUP88nucleoporin 88 | Often (30–79%) | In 1 condition |
| OTUD6BOTU deubiquitinase 6B | Often (30–79%) | In 2 conditions |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Often (30–79%) | In 1 condition |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Often (30–79%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Often (30–79%) | In 1 condition |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Often (30–79%) | In 2 conditions |
| PKDCCprotein kinase domain containing, cytoplasmic | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 2 conditions |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Often (30–79%) | In 1 condition |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Often (30–79%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Often (30–79%) | In 2 conditions |
| PUF60poly(U) binding splicing factor 60 | Often (30–79%) | In 3 conditions |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Often (30–79%) | In 2 conditions |
| RB1RB transcriptional corepressor 1 | Often (30–79%) | In 1 condition |
| RDH11retinol dehydrogenase 11 | Often (30–79%) | In 1 condition |
| RFT1RFT1 glycolipid translocator homolog | Often (30–79%) | In 1 condition |
| RIPK4receptor interacting serine/threonine kinase 4 | Often (30–79%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Often (30–79%) | In 1 condition |
| ROBO3roundabout guidance receptor 3 | Often (30–79%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Often (30–79%) | In 2 conditions |
| RREB1ras responsive element binding protein 1 | Often (30–79%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Often (30–79%) | In 1 condition |
| SEMA5Asemaphorin 5A | Often (30–79%) | In 1 condition |
| SETBP1SET binding protein 1 | Often (30–79%) | In 2 conditions |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Often (30–79%) | In 1 condition |
| SMSspermine synthase | Often (30–79%) | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Often (30–79%) | In 2 conditions |
| STX16syntaxin 16 | Often (30–79%) | In 1 condition |
| TAF1TATA-box binding protein associated factor 1 | Often (30–79%) | In 1 condition |
| TBX1T-box transcription factor 1 | Often (30–79%) | In 1 condition |
| TNNI2troponin I2, fast skeletal type | Often (30–79%) | In 1 condition |
| TNNT3troponin T3, fast skeletal type | Often (30–79%) | In 1 condition |
| TPM2tropomyosin 2 | Often (30–79%) | In 2 conditions |
| TRAF7TNF receptor associated factor 7 | Often (30–79%) | In 1 condition |
| TRAPPC2trafficking protein particle complex subunit 2 | Often (30–79%) | In 2 conditions |
| TRAPPC9trafficking protein particle complex subunit 9 | Often (30–79%) | In 1 condition |
| TRMT10AtRNA methyltransferase 10A | Often (30–79%) | In 2 conditions |
| TUBBtubulin beta class I | Often (30–79%) | In 1 condition |
| UBE2Aubiquitin conjugating enzyme E2 A | Often (30–79%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Often (30–79%) | In 1 condition |
| WNT7AWnt family member 7A | Often (30–79%) | In 2 conditions |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Often (30–79%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Sometimes (5–29%) | In 1 condition |
| ADA2adenosine deaminase 2 | Sometimes (5–29%) | In 1 condition |
| ADAT3adenosine deaminase tRNA specific 3 | Sometimes (5–29%) | In 1 condition |
| AFF3ALF transcription elongation factor 3 | Sometimes (5–29%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Sometimes (5–29%) | In 1 condition |
| APCAPC regulator of Wnt signaling pathway | Sometimes (5–29%) | In 1 condition |
| ARL6ARF like GTPase 6 | Sometimes (5–29%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Sometimes (5–29%) | In 1 condition |
| BBIP1BBSome interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Sometimes (5–29%) | In 1 condition |
| BBS10Bardet-Biedl syndrome 10 | Sometimes (5–29%) | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Sometimes (5–29%) | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Sometimes (5–29%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Sometimes (5–29%) | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Sometimes (5–29%) | In 1 condition |
| BBS9Bardet-Biedl syndrome 9 | Sometimes (5–29%) | In 1 condition |
| BRPF1bromodomain and PHD finger containing 1 | Sometimes (5–29%) | In 1 condition |
| CACHD1cache domain containing 1 | Sometimes (5–29%) | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Sometimes (5–29%) | In 1 condition |
| CEP19centrosomal protein 19 | Sometimes (5–29%) | In 1 condition |
| CEP290centrosomal protein 290 | Sometimes (5–29%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Sometimes (5–29%) | In 1 condition |
| CFL2cofilin 2 | Sometimes (5–29%) | In 1 condition |
| CHN1chimerin 1 | Sometimes (5–29%) | In 1 condition |
| COG5component of oligomeric golgi complex 5 | Sometimes (5–29%) | In 1 condition |
| DHCR2424-dehydrocholesterol reductase | Sometimes (5–29%) | In 1 condition |
| DPYDdihydropyrimidine dehydrogenase | Sometimes (5–29%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Sometimes (5–29%) | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Sometimes (5–29%) | In 3 conditions |
| DVL3dishevelled segment polarity protein 3 | Sometimes (5–29%) | In 2 conditions |
| ERMARDER membrane associated RNA degradation | Sometimes (5–29%) | In 1 condition |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Sometimes (5–29%) | In 2 conditions |
| FANCLFA complementation group L | Sometimes (5–29%) | In 1 condition |
| FILIP1filamin A interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| FLNBfilamin B | Sometimes (5–29%) | In 4 conditions |
| FREM2FRAS1 related extracellular matrix 2 | Sometimes (5–29%) | In 1 condition |
| FZD2frizzled class receptor 2 | Sometimes (5–29%) | In 1 condition |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Sometimes (5–29%) | In 1 condition |
| GATA1GATA binding protein 1 | Sometimes (5–29%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Sometimes (5–29%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| HDAC4histone deacetylase 4 | Sometimes (5–29%) | In 1 condition |
| HEATR3HEAT repeat containing 3 | Sometimes (5–29%) | In 1 condition |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Sometimes (5–29%) | In 1 condition |
| HESX1HESX homeobox 1 | Sometimes (5–29%) | In 1 condition |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Sometimes (5–29%) | In 1 condition |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Sometimes (5–29%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Sometimes (5–29%) | In 1 condition |
| IFT172intraflagellar transport 172 | Sometimes (5–29%) | In 1 condition |
| IFT27intraflagellar transport 27 | Sometimes (5–29%) | In 1 condition |
| IFT74intraflagellar transport 74 | Sometimes (5–29%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Sometimes (5–29%) | In 1 condition |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| KIF26Akinesin family member 26A | Sometimes (5–29%) | In 1 condition |
| KLHL41kelch like family member 41 | Sometimes (5–29%) | In 1 condition |
| LHX4LIM homeobox 4 | Sometimes (5–29%) | In 1 condition |
| LMOD3leiomodin 3 | Sometimes (5–29%) | In 1 condition |
| LMX1BLIM homeobox transcription factor 1 beta | Sometimes (5–29%) | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Sometimes (5–29%) | In 1 condition |
| MAB21L1mab-21 like 1 | Sometimes (5–29%) | In 1 condition |
| MADDMAP kinase activating death domain | Sometimes (5–29%) | In 1 condition |
| MAFBMAF bZIP transcription factor B | Sometimes (5–29%) | In 1 condition |
| MAN1B1mannosidase alpha class 1B member 1 | Sometimes (5–29%) | In 2 conditions |
| MAN2B1mannosidase alpha class 2B member 1 | Sometimes (5–29%) | In 1 condition |
| MAPRE2microtubule associated protein RP/EB family member 2 | Sometimes (5–29%) | In 1 condition |
| MED13Lmediator complex subunit 13L | Sometimes (5–29%) | In 2 conditions |
| MEGF8multiple EGF like domains 8 | Sometimes (5–29%) | In 1 condition |
| MICU1mitochondrial calcium uptake 1 | Sometimes (5–29%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Sometimes (5–29%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Sometimes (5–29%) | In 2 conditions |
| MSL3MSL complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| MYL11myosin light chain 11 | Sometimes (5–29%) | In 1 condition |
| NEBnebulin | Sometimes (5–29%) | In 1 condition |
| NPHP1nephrocystin 1 | Sometimes (5–29%) | In 1 condition |
| NXNnucleoredoxin | Sometimes (5–29%) | In 1 condition |
| PGAP2post-GPI attachment to proteins 2 | Sometimes (5–29%) | In 1 condition |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Sometimes (5–29%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sometimes (5–29%) | In 1 condition |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Sometimes (5–29%) | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Sometimes (5–29%) | In 1 condition |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Sometimes (5–29%) | In 1 condition |
| PLAAT3phospholipase A and acyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| PLXNA1plexin A1 | Sometimes (5–29%) | In 1 condition |
| POP1POP1 ribonuclease P/MRP subunit | 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 |
| PROP1PROP paired-like homeobox 1 | Sometimes (5–29%) | In 1 condition |
| RFX7regulatory factor X7 | Sometimes (5–29%) | In 1 condition |
| RPL11ribosomal protein L11 | Sometimes (5–29%) | In 1 condition |
| RPL15ribosomal protein L15 | Sometimes (5–29%) | In 1 condition |
| 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 1 condition |
| RPL5ribosomal protein L5 | Sometimes (5–29%) | In 1 condition |
| 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 |
| RPS26ribosomal protein S26 | 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 |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| SATB2SATB homeobox 2 | Sometimes (5–29%) | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Sometimes (5–29%) | In 1 condition |
| SCLT1sodium channel and clathrin linker 1 | Sometimes (5–29%) | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sometimes (5–29%) | In 1 condition |
| SETD5SET domain containing 5 | Sometimes (5–29%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Sometimes (5–29%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sometimes (5–29%) | In 1 condition |
| SRRM2serine/arginine repetitive matrix 2 | Sometimes (5–29%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Sometimes (5–29%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Sometimes (5–29%) | In 2 conditions |
| TBX2T-box transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| TCTN2tectonic family member 2 | Sometimes (5–29%) | In 1 condition |
| TGDSTDP-glucose 4,6-dehydratase | Sometimes (5–29%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Sometimes (5–29%) | In 1 condition |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Sometimes (5–29%) | In 1 condition |
| TSR2TSR2 ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Sometimes (5–29%) | In 1 condition |
| VPS35LVPS35 endosomal protein sorting factor like | Sometimes (5–29%) | In 1 condition |
| WASHC5WASH complex subunit 5 | Sometimes (5–29%) | In 1 condition |
| WDPCPWD repeat containing planar cell polarity effector | Sometimes (5–29%) | In 1 condition |
| WNT5AWnt family member 5A | Sometimes (5–29%) | In 2 conditions |
| WWOXWW domain containing oxidoreductase | Sometimes (5–29%) | In 1 condition |
| FN1fibronectin 1 | Rarely (1–4%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Rarely (1–4%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Rarely (1–4%) | In 1 condition |
| SMPD4sphingomyelin phosphodiesterase 4 | Rarely (1–4%) | In 1 condition |
| AEBP1AE binding protein 1 | Not recorded | In 1 condition |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Not recorded | In 1 condition |
| ALDOAaldolase, fructose-bisphosphate A | Not recorded | In 1 condition |
| ATRXATRX chromatin remodeler | Not recorded | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Not recorded | In 1 condition |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Not recorded | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Not recorded | In 1 condition |
| CDK5cyclin dependent kinase 5 | Not recorded | In 1 condition |
| CEP55centrosomal protein 55 | Not recorded | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 2 conditions |
| CRLF1cytokine receptor like factor 1 | Not recorded | In 1 condition |
| DOK7docking protein 7 | Not recorded | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Not recorded | In 1 condition |
| EFNB1ephrin B1 | Not recorded | In 1 condition |
| EXOC6Bexocyst complex component 6B | Not recorded | In 1 condition |
| EXOSC9exosome component 9 | Not recorded | In 1 condition |
| FBN2fibrillin 2 | Not recorded | In 1 condition |
| GLB1galactosidase beta 1 | Not recorded | In 1 condition |
| GPC6glypican 6 | Not recorded | In 1 condition |
| GPX4glutathione peroxidase 4 | Not recorded | In 1 condition |
| HSPA9heat shock protein family A (Hsp70) member 9 | Not recorded | In 1 condition |
| IDSiduronate 2-sulfatase | Not recorded | In 1 condition |
| KIFBPkinesin family binding protein | Not recorded | In 1 condition |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Not recorded | In 1 condition |
| LIFRLIF receptor subunit alpha | Not recorded | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Not recorded | In 1 condition |
| MED12mediator complex subunit 12 | Not recorded | In 1 condition |
| MUSKmuscle associated receptor tyrosine kinase | Not recorded | In 1 condition |
| MYO18Bmyosin XVIIIB | Not recorded | In 1 condition |
| NANSN-acetylneuraminate synthase | Not recorded | In 1 condition |
| NF1neurofibromin 1 | Not recorded | In 1 condition |
| PAM16presequence translocase associated motor 16 | Not recorded | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Not recorded | In 2 conditions |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Not recorded | In 1 condition |
| POLEDNA polymerase epsilon, catalytic subunit | Not recorded | In 1 condition |
| RAB23RAB23, member RAS oncogene family | Not recorded | In 1 condition |
| SMAD4SMAD family member 4 | Not recorded | In 1 condition |
| SPRED1sprouty related EVH1 domain containing 1 | Not recorded | In 1 condition |
| TALDO1transaldolase 1 | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 1 | Not recorded | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | Not recorded | In 1 condition |
| UNC80unc-80 subunit of NALCN channel complex | Not recorded | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | Not recorded | In 2 conditions |
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.
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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks