DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Low phospholipid-associated cholelithiasis ×

Gene: ABCB4 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs72552778

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.810

GeneticVariation

UNIPROT

Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).

28012258

2017

dbSNP:

rs72552778

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.810

GeneticVariation

UNIPROT

Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.

24723470

2014

dbSNP:

rs72552778

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.810

GeneticVariation

UNIPROT

Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.

23533021

2013

dbSNP:

rs72552778

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.810

GeneticVariation

UNIPROT

Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.

22331132

2012

dbSNP:

rs72552778

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.810

GeneticVariation

UNIPROT

ABCB4 gene mutation-associated cholelithiasis in adults.

12891548

2003

dbSNP:

rs72552778

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.810

GeneticVariation

UNIPROT

MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.

11313316

2001

dbSNP:

rs121918442

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.710

GeneticVariation

UNIPROT

Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).

28012258

2017

dbSNP:

rs121918442

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.710

GeneticVariation

UNIPROT

Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.

24723470

2014

dbSNP:

rs121918442

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.710

GeneticVariation

UNIPROT

Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.

23533021

2013

dbSNP:

rs121918442

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.710

GeneticVariation

UNIPROT

Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.

22331132

2012

dbSNP:

rs121918442

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.710

GeneticVariation

UNIPROT

ABCB4 gene mutation-associated cholelithiasis in adults.

12891548

2003

dbSNP:

rs121918442

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.710

GeneticVariation

UNIPROT

MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.

11313316

2001

dbSNP:

rs8187797

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.710

GeneticVariation

UNIPROT

Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).

28012258

2017

dbSNP:

rs8187797

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.710

GeneticVariation

UNIPROT

Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.

24723470

2014

dbSNP:

rs8187797

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.710

GeneticVariation

UNIPROT

Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.

23533021

2013

dbSNP:

rs8187797

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.710

GeneticVariation

UNIPROT

Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.

22331132

2012

dbSNP:

rs8187797

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.710

GeneticVariation

UNIPROT

ABCB4 gene mutation-associated cholelithiasis in adults.

12891548

2003

dbSNP:

rs8187797

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.710

GeneticVariation

UNIPROT

MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.

11313316

2001

dbSNP:

rs1257887155

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.700

GeneticVariation

UNIPROT

Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).

28012258

2017

dbSNP:

rs1257887155

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.700

GeneticVariation

UNIPROT

Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.

24723470

2014

dbSNP:

rs1257887155

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.700

GeneticVariation

UNIPROT

Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.

23533021

2013

dbSNP:

rs1257887155

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.700

GeneticVariation

UNIPROT

Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.

22331132

2012

dbSNP:

rs1257887155

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.700

GeneticVariation

UNIPROT

ABCB4 gene mutation-associated cholelithiasis in adults.

12891548

2003

dbSNP:

rs1257887155

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.700

GeneticVariation

UNIPROT

MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.

11313316

2001

dbSNP:

rs1262922848

ABCB4

CUI:	C2609268
Disease:	Low phospholipid-associated cholelithiasis

Low phospholipid-associated cholelithiasis

0.700

GeneticVariation

UNIPROT

Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).

28012258

2017