Trait
Hydronephrosis
Severe distention of the kidney with dilation of the renal pelvis and calices.
Summary
- Body system
- Abnormality of the genitourinary system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Hydronephrosis, and the rest of your genome, with one test.
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Get my Genome Test282 genes linked to Hydronephrosis
Changes in these genes cause rare conditions in which Hydronephrosis is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AMOTL1angiomotin like 1 | Always | In 1 condition |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Always | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Always | In 1 condition |
| CACHD1cache domain containing 1 | Always | In 1 condition |
| CD81CD81 molecule | Always | In 1 condition |
| CIROZciliated left-right organizer protein containing ZP-N domains | Always | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Always | In 3 conditions |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Always | In 2 conditions |
| EN1engrailed homeobox 1 | Always | In 1 condition |
| EP300EP300 lysine acetyltransferase | Always | In 2 conditions |
| FBXL4F-box and leucine rich repeat protein 4 | Always | In 1 condition |
| FLNAfilamin A | Always | In 7 conditions |
| GPC3glypican 3 | Always | In 2 conditions |
| HOXA13homeobox A13 | Always | In 1 condition |
| IARS1isoleucyl-tRNA synthetase 1 | Always | In 2 conditions |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KIAA0753KIAA0753 | Always | In 1 condition |
| LMOD1leiomodin 1 | Always | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Always | In 1 condition |
| MED12mediator complex subunit 12 | Always | In 2 conditions |
| MED16mediator complex subunit 16 | Always | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Always | In 2 conditions |
| NCAPG2non-SMC condensin II complex subunit G2 | Always | In 1 condition |
| NFIAnuclear factor I A | Always | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| SGSM3small G protein signaling modulator 3 | Always | In 1 condition |
| TOP2BDNA topoisomerase II beta | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Very often (80–99%) | In 1 condition |
| KAT6Blysine acetyltransferase 6B | Very often (80–99%) | In 2 conditions |
| POLEDNA polymerase epsilon, catalytic subunit | Very often (80–99%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 1 condition |
| WFS1wolframin ER transmembrane glycoprotein | Very often (80–99%) | In 1 condition |
| ACTBactin beta | Often (30–79%) | In 1 condition |
| ACTG1actin gamma 1 | Often (30–79%) | In 1 condition |
| ACTG2actin gamma 2, smooth muscle | Often (30–79%) | In 2 conditions |
| BBS12Bardet-Biedl syndrome 12 | Often (30–79%) | In 2 conditions |
Show 242 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| BCL11ABCL11 transcription factor A | Often (30–79%) | In 1 condition |
| BCORBCL6 corepressor | Often (30–79%) | In 1 condition |
| BNC2basonuclin zinc finger protein 2 | Often (30–79%) | In 1 condition |
| CCNQcyclin Q | Often (30–79%) | In 1 condition |
| CHRNA3cholinergic receptor nicotinic alpha 3 subunit | Often (30–79%) | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Often (30–79%) | In 1 condition |
| COG7component of oligomeric golgi complex 7 | Often (30–79%) | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Often (30–79%) | In 1 condition |
| DLG5discs large MAGUK scaffold protein 5 | Often (30–79%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Often (30–79%) | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Often (30–79%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Often (30–79%) | In 1 condition |
| EMILIN1elastin microfibril interfacer 1 | Often (30–79%) | In 1 condition |
| ERI1exoribonuclease 1 | Often (30–79%) | In 2 conditions |
| GATA3GATA binding protein 3 | Often (30–79%) | In 1 condition |
| GEMIN4gem nuclear organelle associated protein 4 | Often (30–79%) | In 1 condition |
| GPC4glypican 4 | Often (30–79%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Often (30–79%) | In 3 conditions |
| HPSE2heparanase 2 (inactive) | Often (30–79%) | In 2 conditions |
| IFT80intraflagellar transport 80 | Often (30–79%) | In 1 condition |
| ITGA6integrin subunit alpha 6 | Often (30–79%) | In 1 condition |
| ITGB4integrin subunit beta 4 | Often (30–79%) | In 2 conditions |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Often (30–79%) | In 2 conditions |
| LRRC7leucine rich repeat containing 7 | Often (30–79%) | In 1 condition |
| LTBP4latent transforming growth factor beta binding protein 4 | Often (30–79%) | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Often (30–79%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Often (30–79%) | In 3 conditions |
| MYOD1myogenic differentiation 1 | Often (30–79%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Often (30–79%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Often (30–79%) | In 2 conditions |
| PEX10peroxisomal biogenesis factor 10 | Often (30–79%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Often (30–79%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Often (30–79%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Often (30–79%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Often (30–79%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Often (30–79%) | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Often (30–79%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Often (30–79%) | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Often (30–79%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Often (30–79%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Often (30–79%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Often (30–79%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Often (30–79%) | In 1 condition |
| PSKH1protein serine kinase H1 | Often (30–79%) | In 1 condition |
| RAD51CRAD51 paralog C | Often (30–79%) | In 1 condition |
| RELREL proto-oncogene, NF-kB subunit | Often (30–79%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Often (30–79%) | In 2 conditions |
| SETBP1SET binding protein 1 | Often (30–79%) | In 2 conditions |
| SOX17SRY-box transcription factor 17 | Often (30–79%) | In 1 condition |
| TP63tumor protein p63 | Often (30–79%) | In 2 conditions |
| WDR35WD repeat domain 35 | Often (30–79%) | In 1 condition |
| XPO1exportin 1 | Often (30–79%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| APCAPC regulator of Wnt signaling pathway | Sometimes (5–29%) | In 1 condition |
| ARL3ARF like GTPase 3 | Sometimes (5–29%) | In 1 condition |
| ARL6ARF like GTPase 6 | Sometimes (5–29%) | In 1 condition |
| ATRXATRX chromatin remodeler | Sometimes (5–29%) | In 2 conditions |
| B3GLCTbeta 3-glucosyltransferase | Sometimes (5–29%) | In 2 conditions |
| 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 |
| BBS2Bardet-Biedl syndrome 2 | 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 |
| BCKDKbranched chain keto acid dehydrogenase kinase | Sometimes (5–29%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sometimes (5–29%) | In 2 conditions |
| BRF1BRF1 general transcription factor IIIB subunit | Sometimes (5–29%) | In 1 condition |
| CA2carbonic anhydrase 2 | Sometimes (5–29%) | In 1 condition |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Sometimes (5–29%) | In 1 condition |
| CASZ1castor zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Sometimes (5–29%) | In 1 condition |
| CDC42cell division cycle 42 | Sometimes (5–29%) | In 2 conditions |
| 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 |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 2 conditions |
| CHST14carbohydrate sulfotransferase 14 | Sometimes (5–29%) | In 2 conditions |
| COL18A1collagen type XVIII alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Sometimes (5–29%) | In 1 condition |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| DDB1damage specific DNA binding protein 1 | Sometimes (5–29%) | In 1 condition |
| DDX6DEAD-box helicase 6 | Sometimes (5–29%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Sometimes (5–29%) | In 2 conditions |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Sometimes (5–29%) | In 1 condition |
| DSEdermatan sulfate epimerase | Sometimes (5–29%) | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Sometimes (5–29%) | In 2 conditions |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sometimes (5–29%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sometimes (5–29%) | In 1 condition |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Sometimes (5–29%) | In 1 condition |
| FAM20CFAM20C golgi associated secretory pathway kinase | Sometimes (5–29%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Sometimes (5–29%) | In 3 conditions |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sometimes (5–29%) | In 1 condition |
| FOCADfocadhesin | Sometimes (5–29%) | In 1 condition |
| FOXF1forkhead box F1 | Sometimes (5–29%) | In 2 conditions |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Sometimes (5–29%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sometimes (5–29%) | In 1 condition |
| GNB1G protein subunit beta 1 | Sometimes (5–29%) | In 2 conditions |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Sometimes (5–29%) | In 1 condition |
| HDAC4histone deacetylase 4 | Sometimes (5–29%) | In 1 condition |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Sometimes (5–29%) | In 1 condition |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Sometimes (5–29%) | In 1 condition |
| HOXD13homeobox D13 | Sometimes (5–29%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 1 condition |
| IFT172intraflagellar transport 172 | Sometimes (5–29%) | In 1 condition |
| IFT27intraflagellar transport 27 | Sometimes (5–29%) | In 2 conditions |
| IFT56intraflagellar transport 56 | Sometimes (5–29%) | In 1 condition |
| IFT74intraflagellar transport 74 | Sometimes (5–29%) | In 1 condition |
| IPO8importin 8 | Sometimes (5–29%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Sometimes (5–29%) | In 2 conditions |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Sometimes (5–29%) | In 1 condition |
| KDM6Alysine demethylase 6A | Sometimes (5–29%) | In 2 conditions |
| KMT2Dlysine methyltransferase 2D | Sometimes (5–29%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Sometimes (5–29%) | In 2 conditions |
| LAMA3laminin subunit alpha 3 | Sometimes (5–29%) | In 1 condition |
| LAMB3laminin subunit beta 3 | Sometimes (5–29%) | In 1 condition |
| LAMC2laminin subunit gamma 2 | Sometimes (5–29%) | In 1 condition |
| LMNB1lamin B1 | Sometimes (5–29%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Sometimes (5–29%) | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Sometimes (5–29%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sometimes (5–29%) | In 2 conditions |
| MAP2K2mitogen-activated protein kinase kinase 2 | Sometimes (5–29%) | In 2 conditions |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sometimes (5–29%) | In 1 condition |
| MED11mediator complex subunit 11 | Sometimes (5–29%) | In 1 condition |
| MED25mediator complex subunit 25 | Sometimes (5–29%) | In 2 conditions |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 1 condition |
| MIA3MIA SH3 domain ER export factor 3 | Sometimes (5–29%) | In 1 condition |
| MID1midline 1 | Sometimes (5–29%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Sometimes (5–29%) | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Sometimes (5–29%) | In 1 condition |
| MYMXmyomixer, myoblast fusion factor | Sometimes (5–29%) | In 1 condition |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Sometimes (5–29%) | In 1 condition |
| NPHP1nephrocystin 1 | Sometimes (5–29%) | In 1 condition |
| NRIP1nuclear receptor interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Sometimes (5–29%) | In 2 conditions |
| NXNnucleoredoxin | Sometimes (5–29%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Sometimes (5–29%) | In 1 condition |
| OTUD5OTU deubiquitinase 5 | Sometimes (5–29%) | In 1 condition |
| PAX7paired box 7 | Sometimes (5–29%) | In 1 condition |
| PDPNpodoplanin | 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 |
| PGM1phosphoglucomutase 1 | Sometimes (5–29%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sometimes (5–29%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sometimes (5–29%) | In 3 conditions |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sometimes (5–29%) | In 3 conditions |
| 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 |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Sometimes (5–29%) | In 1 condition |
| PLECplectin | Sometimes (5–29%) | In 1 condition |
| PPFIA3PPFI scaffold protein A3 | Sometimes (5–29%) | In 1 condition |
| PRDM16PR/SET domain 16 | Sometimes (5–29%) | In 1 condition |
| PRKCZprotein kinase C zeta | Sometimes (5–29%) | In 1 condition |
| PRTN3proteinase 3 | Sometimes (5–29%) | In 1 condition |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Sometimes (5–29%) | In 1 condition |
| RAB18RAB18, member RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Sometimes (5–29%) | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Sometimes (5–29%) | In 1 condition |
| RBM10RNA binding motif protein 10 | Sometimes (5–29%) | In 2 conditions |
| RECQL4RecQ like helicase 4 | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| RFX7regulatory factor X7 | Sometimes (5–29%) | In 1 condition |
| RORARAR related orphan receptor A | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 1 condition |
| SCAF4SR-related CTD associated factor 4 | Sometimes (5–29%) | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Sometimes (5–29%) | In 1 condition |
| SCARF2scavenger receptor class F member 2 | 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 |
| SEMA3Esemaphorin 3E | Sometimes (5–29%) | In 1 condition |
| SIX1SIX homeobox 1 | Sometimes (5–29%) | In 1 condition |
| SIX5SIX homeobox 5 | Sometimes (5–29%) | In 1 condition |
| SKISKI proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Sometimes (5–29%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Sometimes (5–29%) | In 2 conditions |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Sometimes (5–29%) | In 2 conditions |
| TASP1taspase 1 | Sometimes (5–29%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Sometimes (5–29%) | In 1 condition |
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 2 conditions |
| TBX18T-box transcription factor 18 | Sometimes (5–29%) | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | Sometimes (5–29%) | In 1 condition |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Sometimes (5–29%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Sometimes (5–29%) | In 1 condition |
| TRRAPtransformation/transcription domain associated protein | Sometimes (5–29%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Sometimes (5–29%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Sometimes (5–29%) | In 1 condition |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Sometimes (5–29%) | In 2 conditions |
| USP9Xubiquitin specific peptidase 9 X-linked | Sometimes (5–29%) | In 2 conditions |
| VPS35LVPS35 endosomal protein sorting factor like | Sometimes (5–29%) | In 1 condition |
| WASHC5WASH complex subunit 5 | Sometimes (5–29%) | In 2 conditions |
| WBP4WW domain binding protein 4 | Sometimes (5–29%) | In 1 condition |
| WDPCPWD repeat containing planar cell polarity effector | Sometimes (5–29%) | In 1 condition |
| WLSWnt ligand secretion mediator | Sometimes (5–29%) | In 1 condition |
| YY1YY1 transcription factor | Sometimes (5–29%) | In 2 conditions |
| ZEB2zinc finger E-box binding homeobox 2 | Sometimes (5–29%) | In 2 conditions |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ZMYM2zinc finger MYM-type containing 2 | Sometimes (5–29%) | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Rarely (1–4%) | In 1 condition |
| ATN1atrophin 1 | Rarely (1–4%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Rarely (1–4%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Rarely (1–4%) | In 1 condition |
| FGF10fibroblast growth factor 10 | Rarely (1–4%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Rarely (1–4%) | In 1 condition |
| GREB1LGREB1 like retinoic acid receptor coactivator | Rarely (1–4%) | In 1 condition |
| NF1neurofibromin 1 | Rarely (1–4%) | In 1 condition |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Rarely (1–4%) | In 2 conditions |
| PORCNporcupine O-acyltransferase | Rarely (1–4%) | In 2 conditions |
| SPARTspartin | Rarely (1–4%) | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Rarely (1–4%) | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Not recorded | In 1 condition |
| ARPC4actin related protein 2/3 complex subunit 4 | Not recorded | In 1 condition |
| ATP7AATPase copper transporting alpha | Not recorded | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Not recorded | In 1 condition |
| CCBE1collagen and calcium binding EGF domains 1 | Not recorded | In 1 condition |
| CENPFcentromere protein F | Not recorded | In 1 condition |
| CHRM3cholinergic receptor muscarinic 3 | Not recorded | In 1 condition |
| CRTAPcartilage associated protein | Not recorded | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Not recorded | In 1 condition |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Not recorded | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Not recorded | In 1 condition |
| GLI3GLI family zinc finger 3 | Not recorded | In 1 condition |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Not recorded | In 1 condition |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Not recorded | In 1 condition |
| MASP1MBL associated serine protease 1 | Not recorded | In 1 condition |
| NBNnibrin | Not recorded | In 1 condition |
| PLD1phospholipase D1 | Not recorded | In 1 condition |
| RAB23RAB23, member RAS oncogene family | Not recorded | In 1 condition |
| SALL4spalt like transcription factor 4 | Not recorded | In 1 condition |
| SHHsonic hedgehog signaling molecule | Not recorded | In 1 condition |
| STRA6signaling receptor and transporter of retinol STRA6 | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 1 | Not recorded | In 1 condition |
| TBX15T-box transcription factor 15 | Not recorded | In 1 condition |
| WNT5AWnt family member 5A | Not recorded | In 1 condition |
| XDHxanthine dehydrogenase | Not recorded | In 1 condition |
| ZIC3Zic family zinc finger 3 | 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.
One test. A lifetime of answers.
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