PedAM

Pediatric Disease Annotations & Medicines


	cholecystolithiasis

Disease ID	1291
Disease	cholecystolithiasis
Definition	Presence or formation of GALLSTONES in the GALLBLADDER.
Synonym	calculus gallbladder cholecystolithiasis [disease/finding] gall bladder stones gallbladder, calculus gs - gallstone
DOID	DOID:11151
UMLS	C0947622
MeSH	D041761
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0242216 \| gallbladder stones \| 1 C0022350 \| dubin-johnson syndrome \| 1 C0238137 \| gallbladder adenoma \| 1 C0023890 \| cirrhosis \| 1 C0023890 \| liver cirrhosis \| 1 C0008350 \| gallstone \| 1 C0008325 \| cholecystitis \| 1 C0027809 \| neurilemmoma \| 1 C0005683 \| bladder stone \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) ABCG8 \| 64241 \| GWASCAT ABCG5 \| 64240 \| GWASCAT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:61) 634 \| CEACAM1 \| DISEASES 6343 \| SCT \| DISEASES 6793 \| STK10 \| DISEASES 4680 \| CEACAM6 \| DISEASES 10857 \| PGRMC1 \| DISEASES 343 \| AQP8 \| DISEASES 27120 \| DKKL1 \| DISEASES 1048 \| CEACAM5 \| DISEASES 5539 \| PPY \| DISEASES 1075 \| CTSC \| DISEASES 345 \| APOC3 \| DISEASES 6754 \| SSTR4 \| DISEASES 1401 \| CRP \| DISEASES 1131 \| CHRM3 \| DISEASES 967 \| CD63 \| DISEASES 1593 \| CYP27A1 \| DISEASES 3569 \| IL6 \| DISEASES 10483 \| SEC23B \| DISEASES 3553 \| IL1B \| DISEASES 4722 \| NDUFS3 \| DISEASES 3931 \| LCAT \| DISEASES 25824 \| PRDX5 \| DISEASES 5244 \| ABCB4 \| DISEASES 6751 \| SSTR1 \| DISEASES 4838 \| NODAL \| DISEASES 7547 \| ZIC3 \| DISEASES 6750 \| SST \| DISEASES 6755 \| SSTR5 \| DISEASES 9965 \| FGF19 \| DISEASES 4724 \| NDUFS4 \| DISEASES 89927 \| C16orf45 \| DISEASES 8000 \| PSCA \| DISEASES 1581 \| CYP7A1 \| DISEASES 2990 \| GUSB \| DISEASES 358 \| AQP1 \| DISEASES 1604 \| CD55 \| DISEASES 7173 \| TPO \| DISEASES 246329 \| STAC3 \| DISEASES 885 \| CCK \| DISEASES 9138 \| ARHGEF1 \| DISEASES 7180 \| CRISP2 \| DISEASES 966 \| CD59 \| DISEASES 2804 \| GOLGB1 \| DISEASES 7405 \| UVRAG \| DISEASES 6752 \| SSTR2 \| DISEASES 773 \| CACNA1A \| DISEASES 4512 \| MT-CO1 \| DISEASES 462 \| SERPINC1 \| DISEASES 1490 \| CTGF \| DISEASES 5406 \| PNLIP \| DISEASES 5236 \| PGM1 \| DISEASES 7295 \| TXN \| DISEASES 5320 \| PLA2G2A \| DISEASES 3030 \| HADHA \| DISEASES 2641 \| GCG \| DISEASES 7124 \| TNF \| DISEASES 7866 \| IFRD2 \| DISEASES 4588 \| MUC6 \| DISEASES 2859 \| GPR35 \| DISEASES 80012 \| PHC3 \| DISEASES 6949 \| TCOF1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1291
Disease	cholecystolithiasis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0012531 \| Pain \| 2 HP:0100008 \| Schwann cell tumour \| 1 HP:0001082 \| Cholecystitis \| 1 HP:0010474 \| Bladder stones \| 1 HP:0001394 \| Hepatic cirrhosis \| 1

Disease ID	1291
Disease	cholecystolithiasis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0008325 \| cholecystitis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:44)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs11887534	17632509	64240	ABCG5	umls:C0947622	GWASCAT	A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.	0.130825337	2007	ABCG5;ABCG8	2	43839108	G	A,C
rs11887534	17632509	64241	ABCG8	umls:C0947622	GAD	[A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.]	0.144017707	2007	ABCG5;ABCG8	2	43839108	G	A,C
rs11887534	18522623	64240	ABCG5	umls:C0947622	BeFree	Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.	0.130825337	2008	ABCG5;ABCG8	2	43839108	G	A,C
rs11887534	18522623	64241	ABCG8	umls:C0947622	BeFree	Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.	0.144017707	2008	ABCG5;ABCG8	2	43839108	G	A,C
rs11887534	21274884	64241	ABCG8	umls:C0947622	BeFree	To test the hypothesis that ABCG8 (adenosine triphosphate-binding cassette transporter G8) Asp19His (D19H) genotype predicted risk of gallstones and biliary cancer in the general population, we studied 62,279 white individuals from The Copenhagen City Heart Study and The Copenhagen General Population Study, randomly selected to reflect the adult Danish population aged 20 to 80+ years.	0.144017707	2011	ABCG5;ABCG8	2	43839108	G	A,C
rs11887534	17612515	64240	ABCG5	umls:C0947622	BeFree	To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).	0.130825337	2007	ABCG5;ABCG8	2	43839108	G	A,C
rs11887534	17632509	64241	ABCG8	umls:C0947622	GWASCAT	A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.	0.144017707	2007	ABCG5;ABCG8	2	43839108	G	A,C
rs11887534	17612515	64241	ABCG8	umls:C0947622	BeFree	To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).	0.144017707	2007	ABCG5;ABCG8	2	43839108	G	A,C
rs11887534	17632509	64240	ABCG5	umls:C0947622	GAD	[A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.]	0.130825337	2007	ABCG5;ABCG8	2	43839108	G	A,C
rs11887534	22869156	64241	ABCG8	umls:C0947622	BeFree	ABCG8-D19H is a predictor of gallstone recurrence, a major long term postoperative biliary complication.	0.144017707	2013	ABCG5;ABCG8	2	43839108	G	A,C
rs11887534	21039838	64241	ABCG8	umls:C0947622	BeFree	Role of ABCG8 D19H (rs11887534) variant in gallstone susceptibility in northern India.	0.144017707	2010	ABCG5;ABCG8	2	43839108	G	A,C
rs11887534	17626266	64241	ABCG8	umls:C0947622	BeFree	Consistent with the mouse model, heterozygosity for the lithogenic ABCG8 allele was associated with gallstones in humans; 21.4% of gallstone patients carried the heterozygous D19H genotype, compared with 8.6% of controls (OR = 2.954; P = 0.026).	0.144017707	2007	ABCG5;ABCG8	2	43839108	G	A,C
rs11887534	21062971	64241	ABCG8	umls:C0947622	BeFree	Our findings suggest that ABCG8 rs11887534, identified as a gallstone risk single-nucleotide polymorphism by whole genome scan, is also associated with an increased risk of biliary tract cancer.	0.144017707	2011	ABCG5;ABCG8	2	43839108	G	A,C
rs147194762	18522623	64241	ABCG8	umls:C0947622	BeFree	Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.	0.144017707	2008	ABCG8	2	43873860	A	G
rs147194762	18522623	64240	ABCG5	umls:C0947622	BeFree	Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.	0.130825337	2008	ABCG8	2	43873860	A	G
rs4148211	17612515	64240	ABCG5	umls:C0947622	BeFree	To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).	0.130825337	2007	ABCG8;LOC102725159	2	43844604	A	G
rs4148211	18522623	64241	ABCG8	umls:C0947622	BeFree	Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.	0.144017707	2008	ABCG8;LOC102725159	2	43844604	A	G
rs4148211	17612515	64241	ABCG8	umls:C0947622	BeFree	To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).	0.144017707	2007	ABCG8;LOC102725159	2	43844604	A	G
rs4148211	18522623	64240	ABCG5	umls:C0947622	BeFree	Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.	0.130825337	2008	ABCG8;LOC102725159	2	43844604	A	G
rs4148217	17612515	64240	ABCG5	umls:C0947622	BeFree	To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).	0.130825337	2007	ABCG8	2	43872294	C	A,G,T
rs4148217	18522623	64241	ABCG8	umls:C0947622	BeFree	Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.	0.144017707	2008	ABCG8	2	43872294	C	A,G,T
rs4148217	18522623	64240	ABCG5	umls:C0947622	BeFree	Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.	0.130825337	2008	ABCG8	2	43872294	C	A,G,T
rs4148217	17612515	64241	ABCG8	umls:C0947622	BeFree	To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).	0.144017707	2007	ABCG8	2	43872294	C	A,G,T
rs4149000	20837016	10599	SLCO1B1	umls:C0947622	BeFree	By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P = .003), rs4149056 (SLCO1B1; P = .003), and rs4149000 (SLCO1A2; P = .015) were associated with gallstone composition.	0.005276948	2010	SLCO1A2	12	21295063	C	T
rs4149000	20837016	6579	SLCO1A2	umls:C0947622	BeFree	By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P = .003), rs4149056 (SLCO1B1; P = .003), and rs4149000 (SLCO1A2; P = .015) were associated with gallstone composition.	0.002638474	2010	SLCO1A2	12	21295063	C	T
rs4149056	20837016	6579	SLCO1A2	umls:C0947622	BeFree	By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P = .003), rs4149056 (SLCO1B1; P = .003), and rs4149000 (SLCO1A2; P = .015) were associated with gallstone composition.	0.002638474	2010	SLCO1B1	12	21178615	T	C
rs4149056	20837016	10599	SLCO1B1	umls:C0947622	BeFree	By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P = .003), rs4149056 (SLCO1B1; P = .003), and rs4149000 (SLCO1A2; P = .015) were associated with gallstone composition.	0.005276948	2010	SLCO1B1	12	21178615	T	C
rs4994	17640319	155	ADRB3	umls:C0947622	BeFree	Our results indicate that the ADRB3 Trp64Arg polymorphism is associated with gallstone disease thereby representing a genetic marker that identifies subjects at higher risk for gallstone formation.	0.002638474	2007	ADRB3	8	37966280	A	G
rs6544718	17612515	64241	ABCG8	umls:C0947622	BeFree	To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).	0.144017707	2007	ABCG8	2	43877786	T	C,G
rs6544718	17612515	64240	ABCG5	umls:C0947622	BeFree	To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).	0.130825337	2007	ABCG8	2	43877786	T	C,G
rs6544718	18522623	64240	ABCG5	umls:C0947622	BeFree	Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.	0.130825337	2008	ABCG8	2	43877786	T	C,G
rs6544718	18522623	64241	ABCG8	umls:C0947622	BeFree	Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.	0.144017707	2008	ABCG8	2	43877786	T	C,G
rs6720173	18522623	64240	ABCG5	umls:C0947622	BeFree	Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.	0.130825337	2008	DYNC2LI1;ABCG5	2	43813262	G	C
rs6720173	17612515	64241	ABCG8	umls:C0947622	BeFree	To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).	0.144017707	2007	DYNC2LI1;ABCG5	2	43813262	G	C
rs6720173	18522623	64241	ABCG8	umls:C0947622	BeFree	Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.	0.144017707	2008	DYNC2LI1;ABCG5	2	43813262	G	C
rs6720173	17612515	64240	ABCG5	umls:C0947622	BeFree	To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).	0.130825337	2007	DYNC2LI1;ABCG5	2	43813262	G	C
rs6742078	20837016	10599	SLCO1B1	umls:C0947622	BeFree	By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P = .003), rs4149056 (SLCO1B1; P = .003), and rs4149000 (SLCO1A2; P = .015) were associated with gallstone composition.	0.005276948	2010	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233763993	G	T
rs6742078	20837016	6579	SLCO1A2	umls:C0947622	BeFree	By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P = .003), rs4149056 (SLCO1B1; P = .003), and rs4149000 (SLCO1A2; P = .015) were associated with gallstone composition.	0.002638474	2010	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233763993	G	T
rs6742078	20837016	54658	UGT1A1	umls:C0947622	BeFree	UGT1A1 (rs6742078; P = .018) was associated with overall gallstone risk.	0.007524428	2010	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233763993	G	T
rs693	20082485	338	APOB	umls:C0947622	BeFree	Genetic variants involved in gallstone formation such as the apolipoprotein B rs693 and CETP rs708272 polymorphisms may be related to the risk of developing GBC in Chilean women.	0.008729747	2010	APOB	2	21009323	G	A
rs693	20082485	1071	CETP	umls:C0947622	BeFree	Genetic variants involved in gallstone formation such as the apolipoprotein B rs693 and CETP rs708272 polymorphisms may be related to the risk of developing GBC in Chilean women.	0.002909916	2010	APOB	2	21009323	G	A
rs708272	20082485	338	APOB	umls:C0947622	BeFree	Genetic variants involved in gallstone formation such as the apolipoprotein B rs693 and CETP rs708272 polymorphisms may be related to the risk of developing GBC in Chilean women.	0.008729747	2010	CETP	16	56962376	G	A
rs708272	20082485	1071	CETP	umls:C0947622	BeFree	Genetic variants involved in gallstone formation such as the apolipoprotein B rs693 and CETP rs708272 polymorphisms may be related to the risk of developing GBC in Chilean women.	0.002909916	2010	CETP	16	56962376	G	A
rs9514089	22093174	6555	SLC10A2	umls:C0947622	BeFree	Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts.	0.000814326	2011	SLC10A2	13	103058487	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0947622	cinnarizine	D002936	298-57-7	cholecystolithiasis	MESH:D041761	marker/mechanism	10190745
C0947622	diclofenac	D004008	15307-86-5	cholecystolithiasis	MESH:D041761	therapeutic	15752411

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)