Trait
High levels of amniotic fluid
Clinical name: Polyhydramnios
The presence of excess amniotic fluid in the uterus during pregnancy.
Summary
- Also called
- Hydramnios
- Body system
- Abnormality of prenatal development or birth
Reference genomeGRCh38hg38
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Get my Genome Test335 genes linked to High levels of amniotic fluid
Changes in these genes cause rare conditions in which High levels of amniotic fluid 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 |
|---|---|---|
| ACTBactin beta | Always | In 1 condition |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Always | In 1 condition |
| AMMECR1AMMECR nuclear protein 1 | Always | In 1 condition |
| ANO1anoctamin 1 | Always | In 1 condition |
| ARID2AT-rich interaction domain 2 | Always | In 1 condition |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Always | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Always | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Always | In 1 condition |
| CALCRLcalcitonin receptor like receptor | Always | In 1 condition |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Always | In 1 condition |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Always | In 1 condition |
| DMRT2doublesex and mab-3 related transcription factor 2 | Always | In 1 condition |
| DNM2dynamin 2 | Always | In 2 conditions |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Always | In 1 condition |
| EGFRepidermal growth factor receptor | Always | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Always | In 2 conditions |
| FGFR3fibroblast growth factor receptor 3 | Always | In 5 conditions |
| FHfumarate hydratase | Always | In 2 conditions |
| FKBP14FKBP prolyl isomerase 14 | Always | In 1 condition |
| GBE11,4-alpha-glucan branching enzyme 1 | Always | In 1 condition |
| GLDNgliomedin | Always | In 2 conditions |
| GPC3glypican 3 | Always | In 2 conditions |
| IBA57iron-sulfur cluster assembly factor IBA57 | Always | In 2 conditions |
| IKZF1IKAROS family zinc finger 1 | Always | In 1 condition |
| INSRinsulin receptor | Always | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| LMOD1leiomodin 1 | Always | In 2 conditions |
| MED16mediator complex subunit 16 | Always | In 1 condition |
| MYOD1myogenic differentiation 1 | Always | In 2 conditions |
| NEXNnexilin F-actin binding protein | Always | In 1 condition |
| NOTCH3notch receptor 3 | Always | In 1 condition |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Always | In 1 condition |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Always | In 1 condition |
| PLAAphospholipase A2 activating protein | Always | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Always | In 1 condition |
| PRMT7protein arginine methyltransferase 7 | Always | In 1 condition |
| PRRX1paired related homeobox 1 | Always | In 2 conditions |
| REREarginine-glutamic acid dipeptide repeats | Always | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Always | In 3 conditions |
Show 295 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SCYL2SCY1 like pseudokinase 2 | Always | In 1 condition |
| SLC12A1solute carrier family 12 member 1 | Always | In 1 condition |
| SLC27A4solute carrier family 27 member 4 | Always | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Always | In 1 condition |
| SLC9A3solute carrier family 9 member A3 | Always | In 1 condition |
| SOD1superoxide dismutase 1 | Always | In 1 condition |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Always | In 1 condition |
| STRADASTE20 related adaptor alpha | Always | In 2 conditions |
| TBC1D32TBC1 domain family member 32 | Always | In 1 condition |
| THOC2THO complex subunit 2 | Always | In 1 condition |
| TM2D3TM2 domain containing 3 | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| ZBTB42zinc finger and BTB domain containing 42 | Always | In 1 condition |
| ZIC3Zic family zinc finger 3 | Always | In 2 conditions |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Very often (80–99%) | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Very often (80–99%) | In 1 condition |
| BUB3BUB3 mitotic checkpoint protein | Very often (80–99%) | In 1 condition |
| CEP57centrosomal protein 57 | Very often (80–99%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Very often (80–99%) | In 3 conditions |
| FANCBFA complementation group B | Very often (80–99%) | In 1 condition |
| FOXE1forkhead box E1 | Very often (80–99%) | In 2 conditions |
| HOXD13homeobox D13 | Very often (80–99%) | In 1 condition |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Very often (80–99%) | In 2 conditions |
| INPPL1inositol polyphosphate phosphatase like 1 | Very often (80–99%) | In 2 conditions |
| KIF7kinesin family member 7 | Very often (80–99%) | In 1 condition |
| MEG3maternally expressed 3 | Very often (80–99%) | In 3 conditions |
| MUSKmuscle associated receptor tyrosine kinase | Very often (80–99%) | In 2 conditions |
| ODC1ornithine decarboxylase 1 | Very often (80–99%) | In 2 conditions |
| OTX2orthodenticle homeobox 2 | Very often (80–99%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Very often (80–99%) | In 1 condition |
| PLECplectin | Very often (80–99%) | In 3 conditions |
| PTH1Rparathyroid hormone 1 receptor | Very often (80–99%) | In 2 conditions |
| RSPO2R-spondin 2 | Very often (80–99%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Very often (80–99%) | In 3 conditions |
| SLC35D1solute carrier family 35 member D1 | Very often (80–99%) | In 2 conditions |
| TBX4T-box transcription factor 4 | Very often (80–99%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Very often (80–99%) | In 1 condition |
| WNT3Wnt family member 3 | Very often (80–99%) | In 1 condition |
| ABCC6ATP binding cassette subfamily C member 6 | Often (30–79%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Often (30–79%) | In 6 conditions |
| ACTG2actin gamma 2, smooth muscle | Often (30–79%) | In 2 conditions |
| ADAMTSL2ADAMTS like 2 | Often (30–79%) | In 1 condition |
| ADGRG6adhesion G protein-coupled receptor G6 | Often (30–79%) | In 1 condition |
| AKT2AKT serine/threonine kinase 2 | Often (30–79%) | In 1 condition |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Often (30–79%) | In 1 condition |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Often (30–79%) | In 1 condition |
| ATAD3AATPase family AAA domain containing 3A | Often (30–79%) | In 1 condition |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Often (30–79%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Often (30–79%) | In 1 condition |
| BICD2BICD cargo adaptor 2 | Often (30–79%) | In 1 condition |
| BIN1bridging integrator 1 | Often (30–79%) | In 1 condition |
| BSNDbarttin CLCNK type accessory subunit beta | Often (30–79%) | In 2 conditions |
| CHD7chromodomain helicase DNA binding protein 7 | Often (30–79%) | In 2 conditions |
| CLCN7Cl-/H+ antiporter 7 | Often (30–79%) | In 1 condition |
| CLCNKAchloride voltage-gated channel Ka | Often (30–79%) | In 2 conditions |
| CLCNKBchloride voltage-gated channel Kb | Often (30–79%) | In 2 conditions |
| CNTNAP1contactin associated protein 1 | Often (30–79%) | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Often (30–79%) | In 4 conditions |
| DHCR77-dehydrocholesterol reductase | Often (30–79%) | In 1 condition |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Often (30–79%) | In 1 condition |
| DOK7docking protein 7 | Often (30–79%) | In 1 condition |
| DSTdystonin | Often (30–79%) | In 2 conditions |
| DTYMKdeoxythymidylate kinase | Often (30–79%) | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| ERFETS2 repressor factor | Often (30–79%) | In 1 condition |
| FANCFFA complementation group F | Often (30–79%) | In 1 condition |
| FBN1fibrillin 1 | Often (30–79%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Often (30–79%) | In 1 condition |
| FLNBfilamin B | Often (30–79%) | In 4 conditions |
| FUT8fucosyltransferase 8 | Often (30–79%) | In 1 condition |
| GLE1GLE1 RNA export mediator | Often (30–79%) | In 1 condition |
| GPC4glypican 4 | Often (30–79%) | In 1 condition |
| GRM7glutamate metabotropic receptor 7 | Often (30–79%) | In 1 condition |
| HBA1hemoglobin subunit alpha 1 | Often (30–79%) | In 1 condition |
| HBA2hemoglobin subunit alpha 2 | Often (30–79%) | In 1 condition |
| HIC1HIC ZBTB transcriptional repressor 1 | Often (30–79%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Often (30–79%) | In 2 conditions |
| IFT56intraflagellar transport 56 | Often (30–79%) | In 1 condition |
| ITGA6integrin subunit alpha 6 | Often (30–79%) | In 2 conditions |
| ITGB4integrin subunit beta 4 | Often (30–79%) | In 3 conditions |
| KAT6Blysine acetyltransferase 6B | Often (30–79%) | In 2 conditions |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Often (30–79%) | In 2 conditions |
| KCNK3potassium two pore domain channel subfamily K member 3 | Often (30–79%) | In 1 condition |
| KDM6Alysine demethylase 6A | Often (30–79%) | In 1 condition |
| KIDINS220kinase D interacting substrate 220 | Often (30–79%) | In 2 conditions |
| KIF21Akinesin family member 21A | Often (30–79%) | In 1 condition |
| KLHL40kelch like family member 40 | Often (30–79%) | In 2 conditions |
| KLHL41kelch like family member 41 | Often (30–79%) | In 5 conditions |
| KMT2Dlysine methyltransferase 2D | Often (30–79%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 3 conditions |
| LBRlamin B receptor | Often (30–79%) | In 1 condition |
| LMOD3leiomodin 3 | Often (30–79%) | In 3 conditions |
| LTBP3latent transforming growth factor beta binding protein 3 | Often (30–79%) | In 2 conditions |
| LZTR1leucine zipper like post translational regulator 1 | Often (30–79%) | In 1 condition |
| MAGEL2MAGE family member L2 | Often (30–79%) | In 2 conditions |
| MAMLD1mastermind like domain containing 1 | Often (30–79%) | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Often (30–79%) | In 2 conditions |
| MDFICMyoD family inhibitor domain containing | Often (30–79%) | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Often (30–79%) | In 1 condition |
| MTM1myotubularin 1 | Often (30–79%) | In 3 conditions |
| MTMR14myotubularin related protein 14 | Often (30–79%) | In 1 condition |
| MYF6myogenic factor 6 | Often (30–79%) | In 1 condition |
| MYH11myosin heavy chain 11 | Often (30–79%) | In 1 condition |
| MYL1myosin light chain 1 | Often (30–79%) | In 1 condition |
| MYLKmyosin light chain kinase | Often (30–79%) | In 1 condition |
| NEBnebulin | Often (30–79%) | In 6 conditions |
| NPHP3nephrocystin 3 | Often (30–79%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| NUP88nucleoporin 88 | Often (30–79%) | In 2 conditions |
| OTUD5OTU deubiquitinase 5 | Often (30–79%) | In 1 condition |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Often (30–79%) | In 2 conditions |
| PCGF2polycomb group ring finger 2 | Often (30–79%) | In 1 condition |
| PHACTR1phosphatase and actin regulator 1 | Often (30–79%) | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Often (30–79%) | In 1 condition |
| PI4KAphosphatidylinositol 4-kinase alpha | Often (30–79%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Often (30–79%) | In 2 conditions |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Often (30–79%) | In 1 condition |
| PRDM13PR/SET domain 13 | Often (30–79%) | In 1 condition |
| PSAT1phosphoserine aminotransferase 1 | Often (30–79%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| RAPSNreceptor associated protein of the synapse | Often (30–79%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Often (30–79%) | In 1 condition |
| RMND1required for meiotic nuclear division 1 homolog | Often (30–79%) | In 1 condition |
| RPL10ribosomal protein L10 | Often (30–79%) | In 2 conditions |
| RRAS2RAS related 2 | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 3 conditions |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Often (30–79%) | In 1 condition |
| SEMA3Esemaphorin 3E | Often (30–79%) | In 1 condition |
| SLC18A3solute carrier family 18 member A3 | Often (30–79%) | In 1 condition |
| SLC25A12solute carrier family 25 member 12 | Often (30–79%) | In 1 condition |
| SLC25A46solute carrier family 25 member 46 | Often (30–79%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 3 conditions |
| SOX9SRY-box transcription factor 9 | Often (30–79%) | In 2 conditions |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Often (30–79%) | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Often (30–79%) | In 1 condition |
| SZT2SZT2 subunit of KICSTOR complex | Often (30–79%) | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Often (30–79%) | In 1 condition |
| TFAMtranscription factor A, mitochondrial | Often (30–79%) | In 1 condition |
| TMCO1transmembrane and coiled-coil domains 1 | Often (30–79%) | In 2 conditions |
| TNNC2troponin C2, fast skeletal type | Often (30–79%) | In 1 condition |
| TPM3tropomyosin 3 | Often (30–79%) | In 3 conditions |
| TRIP11thyroid hormone receptor interactor 11 | Often (30–79%) | In 2 conditions |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Often (30–79%) | In 1 condition |
| TSEN54tRNA splicing endonuclease subunit 54 | Often (30–79%) | In 2 conditions |
| TTC7Atetratricopeptide repeat domain 7A | Often (30–79%) | In 2 conditions |
| TUBA1Atubulin alpha 1a | Often (30–79%) | In 1 condition |
| TWIST1twist family bHLH transcription factor 1 | Often (30–79%) | In 1 condition |
| VANGL2VANGL planar cell polarity protein 2 | Often (30–79%) | In 1 condition |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Often (30–79%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Sometimes (5–29%) | In 1 condition |
| ADARB1adenosine deaminase RNA specific B1 | Sometimes (5–29%) | In 1 condition |
| ADAT3adenosine deaminase tRNA specific 3 | Sometimes (5–29%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Sometimes (5–29%) | In 1 condition |
| ASCL1achaete-scute family bHLH transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| ASXL3ASXL transcriptional regulator 3 | Sometimes (5–29%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Sometimes (5–29%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Sometimes (5–29%) | In 2 conditions |
| BCL11ABCL11 transcription factor A | Sometimes (5–29%) | In 1 condition |
| CBLCbl proto-oncogene | Sometimes (5–29%) | In 1 condition |
| CCDC47coiled-coil domain containing 47 | Sometimes (5–29%) | In 1 condition |
| CD96CD96 molecule | Sometimes (5–29%) | In 1 condition |
| CDC42BPBCDC42 binding protein kinase beta | Sometimes (5–29%) | In 1 condition |
| CDK13cyclin dependent kinase 13 | Sometimes (5–29%) | In 1 condition |
| CFL2cofilin 2 | Sometimes (5–29%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Sometimes (5–29%) | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Sometimes (5–29%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Sometimes (5–29%) | In 1 condition |
| COASYCoenzyme A synthase | Sometimes (5–29%) | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL1A2collagen type I alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Sometimes (5–29%) | In 2 conditions |
| CRELD1CRELD disulfide isomerase 1 | Sometimes (5–29%) | In 1 condition |
| CSNK2A1casein kinase 2 alpha 1 | Sometimes (5–29%) | In 1 condition |
| DMPKDM1 protein kinase | Sometimes (5–29%) | In 2 conditions |
| DPF2double PHD fingers 2 | Sometimes (5–29%) | In 1 condition |
| DPH5diphthamide biosynthesis 5 | Sometimes (5–29%) | In 1 condition |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Sometimes (5–29%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Sometimes (5–29%) | In 1 condition |
| ECE1endothelin converting enzyme 1 | Sometimes (5–29%) | In 1 condition |
| EDN3endothelin 3 | Sometimes (5–29%) | In 1 condition |
| EDNRBendothelin receptor type B | Sometimes (5–29%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Sometimes (5–29%) | In 2 conditions |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Sometimes (5–29%) | In 1 condition |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Sometimes (5–29%) | In 2 conditions |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Sometimes (5–29%) | In 2 conditions |
| EXT2exostosin glycosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sometimes (5–29%) | In 2 conditions |
| GDNFglial cell derived neurotrophic factor | Sometimes (5–29%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Sometimes (5–29%) | In 1 condition |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Sometimes (5–29%) | In 1 condition |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Sometimes (5–29%) | In 1 condition |
| HIRAhistone cell cycle regulator | Sometimes (5–29%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 1 condition |
| IPO8importin 8 | Sometimes (5–29%) | In 1 condition |
| ITGA7integrin subunit alpha 7 | Sometimes (5–29%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Sometimes (5–29%) | In 1 condition |
| KDM3Blysine demethylase 3B | Sometimes (5–29%) | In 1 condition |
| LMNAlamin A/C | 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 |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Sometimes (5–29%) | In 1 condition |
| MKRN3makorin ring finger protein 3 | Sometimes (5–29%) | In 1 condition |
| MOGSmannosyl-oligosaccharide glucosidase | Sometimes (5–29%) | In 1 condition |
| MYH3myosin heavy chain 3 | Sometimes (5–29%) | In 2 conditions |
| MYL2myosin light chain 2 | Sometimes (5–29%) | In 1 condition |
| NALCNsodium leak channel, non-selective | Sometimes (5–29%) | In 1 condition |
| NPAP1nuclear pore associated protein 1 | Sometimes (5–29%) | In 1 condition |
| NPC2NPC intracellular cholesterol transporter 2 | Sometimes (5–29%) | In 1 condition |
| NRCAMneuronal cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| NRTNneurturin | Sometimes (5–29%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Sometimes (5–29%) | In 1 condition |
| PHOX2Bpaired like homeobox 2B | Sometimes (5–29%) | In 1 condition |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Sometimes (5–29%) | In 1 condition |
| PWAR1Prader Willi/Angelman region RNA 1 | Sometimes (5–29%) | In 1 condition |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Sometimes (5–29%) | In 1 condition |
| RAB34RAB34, member RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| RELREL proto-oncogene, NF-kB subunit | Sometimes (5–29%) | In 1 condition |
| RETret proto-oncogene | Sometimes (5–29%) | In 2 conditions |
| RREB1ras responsive element binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Sometimes (5–29%) | In 1 condition |
| SELENONselenoprotein N | Sometimes (5–29%) | In 1 condition |
| SEMA3Csemaphorin 3C | Sometimes (5–29%) | In 1 condition |
| SEMA3Dsemaphorin 3D | Sometimes (5–29%) | In 1 condition |
| SGSM3small G protein signaling modulator 3 | Sometimes (5–29%) | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Sometimes (5–29%) | In 1 condition |
| SMOsmoothened, frizzled class receptor | Sometimes (5–29%) | In 1 condition |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Sometimes (5–29%) | In 1 condition |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Sometimes (5–29%) | In 1 condition |
| SOX17SRY-box transcription factor 17 | Sometimes (5–29%) | In 1 condition |
| SPOPspeckle type BTB/POZ protein | Sometimes (5–29%) | In 1 condition |
| SREBF1sterol regulatory element binding transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| TBCDtubulin folding cofactor D | Sometimes (5–29%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Sometimes (5–29%) | In 1 condition |
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| TPM2tropomyosin 2 | Sometimes (5–29%) | In 3 conditions |
| TRAPPC12trafficking protein particle complex subunit 12 | Sometimes (5–29%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sometimes (5–29%) | In 1 condition |
| VAC14VAC14 component of PIKFYVE complex | Sometimes (5–29%) | In 1 condition |
| WBP4WW domain binding protein 4 | Sometimes (5–29%) | In 1 condition |
| WDR81WD repeat domain 81 | Sometimes (5–29%) | In 1 condition |
| XPO1exportin 1 | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Sometimes (5–29%) | In 2 conditions |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Rarely (1–4%) | In 2 conditions |
| AQP2aquaporin 2 | Rarely (1–4%) | In 1 condition |
| AVPR2arginine vasopressin receptor 2 | Rarely (1–4%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Rarely (1–4%) | In 1 condition |
| FOXF1forkhead box F1 | Rarely (1–4%) | In 1 condition |
| IRF6interferon regulatory factor 6 | Rarely (1–4%) | In 1 condition |
| KBTBD13kelch repeat and BTB domain containing 13 | Rarely (1–4%) | In 1 condition |
| MSX1msh homeobox 1 | Rarely (1–4%) | In 1 condition |
| MYPNmyopalladin | Rarely (1–4%) | In 1 condition |
| NECTIN1nectin cell adhesion molecule 1 | Rarely (1–4%) | In 1 condition |
| SLC16A2solute carrier family 16 member 2 | Rarely (1–4%) | In 1 condition |
| TAF11TATA-box binding protein associated factor 11 | Rarely (1–4%) | In 1 condition |
| TP63tumor protein p63 | Rarely (1–4%) | In 1 condition |
| ALPLalkaline phosphatase, biomineralization associated | Not recorded | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Not recorded | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Not recorded | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Not recorded | In 1 condition |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Not recorded | In 1 condition |
| CHRNDcholinergic receptor nicotinic delta subunit | Not recorded | In 1 condition |
| CHRNGcholinergic receptor nicotinic gamma subunit | Not recorded | In 1 condition |
| CNTN1contactin 1 | Not recorded | In 1 condition |
| CRB2crumbs cell polarity complex component 2 | Not recorded | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Not recorded | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Not recorded | In 1 condition |
| FLVCR2FLVCR choline and putative heme transporter 2 | Not recorded | In 1 condition |
| GBA1glucosylceramidase beta 1 | Not recorded | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Not recorded | In 1 condition |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Not recorded | In 1 condition |
| KIAA0586KIAA0586 | Not recorded | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Not recorded | In 1 condition |
| MAGED2MAGE family member D2 | Not recorded | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Not recorded | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Not recorded | In 1 condition |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Not recorded | In 1 condition |
| PLVAPplasmalemma vesicle associated protein | Not recorded | In 1 condition |
| RHDRh blood group D antigen | Not recorded | In 1 condition |
| RPL11ribosomal protein L11 | Not recorded | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Not recorded | In 1 condition |
| SKIC3SKI3 subunit of superkiller complex | Not recorded | In 1 condition |
| SLC25A26solute carrier family 25 member 26 | Not recorded | In 1 condition |
| SLC26A3solute carrier family 26 member 3 | Not recorded | In 1 condition |
| SMG9SMG9 nonsense mediated mRNA decay factor | Not recorded | In 1 condition |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Not recorded | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 1 | Not recorded | In 1 condition |
| TRAIPTRAF interacting protein | Not recorded | In 1 condition |
| WDR35WD repeat domain 35 | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | 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.
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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