Trait
Gallstones
Clinical name: Cholelithiasis
Hard, pebble-like deposits that form within the gallbladder.
Summary
- Body system
- Abnormality of the digestive system
Reference genomeGRCh38hg38
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Get my Genome Test87 genes linked to Gallstones
Changes in these genes cause rare conditions in which Gallstones 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 |
|---|---|---|
| ABCB4ATP binding cassette subfamily B member 4 | Always | In 2 conditions |
| HOXA13homeobox A13 | Always | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Always | In 1 condition |
| KLF1KLF transcription factor 1 | Always | In 1 condition |
| MPV17mitochondrial inner membrane protein MPV17 | Always | In 1 condition |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Always | In 1 condition |
| TFE3transcription factor binding to IGHM enhancer 3 | Always | In 1 condition |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Always | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Very often (80–99%) | In 1 condition |
| AIREautoimmune regulator | Often (30–79%) | In 1 condition |
| ANK1ankyrin 1 | Often (30–79%) | In 2 conditions |
| ATP8B1ATPase phospholipid transporting 8B1 | Often (30–79%) | In 1 condition |
| CCDC47coiled-coil domain containing 47 | Often (30–79%) | In 1 condition |
| EPB42erythrocyte membrane protein band 4.2 | Often (30–79%) | In 1 condition |
| GCGRglucagon receptor | Often (30–79%) | In 1 condition |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Often (30–79%) | In 1 condition |
| MRPL39mitochondrial ribosomal protein L39 | Often (30–79%) | In 1 condition |
| NEUROG3neurogenin 3 | Often (30–79%) | In 1 condition |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Often (30–79%) | In 2 conditions |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Often (30–79%) | In 2 conditions |
| SPTA1spectrin alpha, erythrocytic 1 | Often (30–79%) | In 2 conditions |
| SPTBspectrin beta, erythrocytic | Often (30–79%) | In 2 conditions |
| WDR83OSWD repeat domain 83 opposite strand | Often (30–79%) | In 1 condition |
| AIPAHR interacting HSP90 co-chaperone | Sometimes (5–29%) | In 1 condition |
| ALAS25'-aminolevulinate synthase 2 | Sometimes (5–29%) | In 1 condition |
| AMACRalpha-methylacyl-CoA racemase | Sometimes (5–29%) | In 1 condition |
| ARVCFARVCF delta catenin family member | 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 |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Sometimes (5–29%) | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Sometimes (5–29%) | In 2 conditions |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| FECHferrochelatase | Sometimes (5–29%) | In 2 conditions |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Sometimes (5–29%) | In 2 conditions |
| GP1BBglycoprotein Ib platelet subunit beta | Sometimes (5–29%) | In 1 condition |
| GPR101G protein-coupled receptor 101 | Sometimes (5–29%) | In 1 condition |
Show 47 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| GPR35G protein-coupled receptor 35 | 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 |
| HBBhemoglobin subunit beta | Sometimes (5–29%) | In 3 conditions |
| HIRAhistone cell cycle regulator | Sometimes (5–29%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Sometimes (5–29%) | In 1 condition |
| KDM5Clysine demethylase 5C | Sometimes (5–29%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| MED25mediator complex subunit 25 | Sometimes (5–29%) | In 1 condition |
| METTL27methyltransferase like 27 | Sometimes (5–29%) | In 1 condition |
| MST1macrophage stimulating 1 | Sometimes (5–29%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SCARB2scavenger receptor class B member 2 | Sometimes (5–29%) | In 1 condition |
| SCNN1Asodium channel epithelial 1 subunit alpha | Sometimes (5–29%) | In 1 condition |
| SCNN1Bsodium channel epithelial 1 subunit beta | Sometimes (5–29%) | In 1 condition |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Sometimes (5–29%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Sometimes (5–29%) | In 1 condition |
| SEMA4Dsemaphorin 4D | Sometimes (5–29%) | In 1 condition |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| TBL2transducin beta like 2 | Sometimes (5–29%) | In 1 condition |
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 2 conditions |
| TCF4transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sometimes (5–29%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| VPS4Avacuolar protein sorting 4 homolog A | Sometimes (5–29%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Rarely (1–4%) | In 1 condition |
| EPB41erythrocyte membrane protein band 4.1 | Rarely (1–4%) | In 1 condition |
| GYPCglycophorin C (Gerbich blood group) | Rarely (1–4%) | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Rarely (1–4%) | In 1 condition |
| ABCB11ATP binding cassette subfamily B member 11 | Not recorded | In 1 condition |
| ABCG8ATP binding cassette subfamily G member 8 | Not recorded | In 1 condition |
| ALDOAaldolase, fructose-bisphosphate A | Not recorded | In 1 condition |
| BLVRAbiliverdin reductase A | Not recorded | In 1 condition |
| DMPKDM1 protein kinase | Not recorded | In 1 condition |
| GPIglucose-6-phosphate isomerase | Not recorded | In 1 condition |
| HK1hexokinase 1 | Not recorded | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Not recorded | In 1 condition |
| PFKMphosphofructokinase, muscle | Not recorded | In 1 condition |
| PKLRpyruvate kinase L/R | Not recorded | In 1 condition |
| SEC23BSEC23 homolog B, COPII component | Not recorded | In 1 condition |
| TPI1triosephosphate isomerase 1 | Not recorded | In 1 condition |
| UROSuroporphyrinogen III synthase | 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.
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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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