Cholelithiasis (Phenotype)

Synonyms:Gallstones

Id:HP:0001081

Description:Hard, pebble-like deposits that form within the gallbladder.

Results found

Linked to

	Label	Description
	LSS Gene (Entity type)	ENSG00000281289 - lanosterol synthase [Source:HGNC Symbol;Acc:HGNC:6708]
	UQCRFS1 Gene (Entity type)	ENSG00000169021 - ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
	TOR1A Gene (Entity type)	ENSG00000136827 - torsin family 1 member A
	CLDN17 Gene (Entity type)	ENSG00000156282 - claudin 17
	RYR1 Gene (Entity type)	ENSG00000196218 - ryanodine receptor 1
	PSMG1 Gene (Entity type)	ENSG00000183527 - proteasome assembly chaperone 1
	DMPK Gene (Entity type)	ENSG00000104936 - DM1 protein kinase
	ATP8B1 Gene (Entity type)	ENSG00000081923 - ATPase phospholipid transporting 8B1
	SPTB Gene (Entity type)	ENSG00000070182 - spectrin beta, erythrocytic
	PEX19 Gene (Entity type)	ENSG00000162735 - peroxisomal biogenesis factor 19

LSS

Gene (Entity type)

ENSG00000281289 - lanosterol synthase [Source:HGNC Symbol;Acc:HGNC:6708]

UQCRFS1

Gene (Entity type)

ENSG00000169021 - ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

TOR1A

Gene (Entity type)

ENSG00000136827 - torsin family 1 member A

CLDN17

Gene (Entity type)

ENSG00000156282 - claudin 17

RYR1

Gene (Entity type)

ENSG00000196218 - ryanodine receptor 1

PSMG1

Gene (Entity type)

ENSG00000183527 - proteasome assembly chaperone 1

DMPK

Gene (Entity type)

ENSG00000104936 - DM1 protein kinase

ATP8B1

Gene (Entity type)

ENSG00000081923 - ATPase phospholipid transporting 8B1

SPTB

Gene (Entity type)

ENSG00000070182 - spectrin beta, erythrocytic

PEX19

Gene (Entity type)

ENSG00000162735 - peroxisomal biogenesis factor 19

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Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.