ITGB4, integrin subunit beta 4, 3691

N. diseases: 171; N. variants: 29
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912463
rs121912463
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. 9892956 1998
dbSNP: rs121912465
rs121912465
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. 9546354 1998
dbSNP: rs121912465
rs121912465
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). 9422533 1998
dbSNP: rs121912465
rs121912465
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. 9792864 1998
dbSNP: rs121912465
rs121912465
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. 9892956 1998
dbSNP: rs121912467
rs121912467
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. 9546354 1998
dbSNP: rs121912467
rs121912467
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. 9892956 1998
dbSNP: rs121912467
rs121912467
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). 9422533 1998
dbSNP: rs121912467
rs121912467
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. 9792864 1998
dbSNP: rs121912468
rs121912468
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. 9892956 1998
dbSNP: rs121912468
rs121912468
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. 9546354 1998
dbSNP: rs121912468
rs121912468
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). 9422533 1998
dbSNP: rs121912468
rs121912468
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. 9792864 1998
dbSNP: rs80338755
rs80338755
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). 9422533 1998
dbSNP: rs80338755
rs80338755
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT One of the patients with lethal EB-PA was a compound heterozygote for premature termination-codon mutations (C738X/4791delCA), whereas the other patient with a lethal variant was homozygous for a missense mutation involving a cysteine residue (C61Y). 9792864 1998
dbSNP: rs80338755
rs80338755
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. 9546354 1998
dbSNP: rs80338755
rs80338755
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. 9892956 1998
dbSNP: rs121912462
rs121912462
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.710 GeneticVariation BEFREE Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. 9546354 1998
dbSNP: rs1304888529
rs1304888529
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.700 GeneticVariation UNIPROT Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. 9892956 1998
dbSNP: rs1304888529
rs1304888529
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.700 GeneticVariation UNIPROT Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). 9422533 1998
dbSNP: rs1304888529
rs1304888529
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.700 GeneticVariation UNIPROT Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. 9546354 1998
dbSNP: rs1304888529
rs1304888529
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.700 GeneticVariation UNIPROT Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. 9792864 1998
dbSNP: rs1422797135
rs1422797135
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.700 GeneticVariation UNIPROT Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). 9422533 1998
dbSNP: rs1422797135
rs1422797135
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.700 GeneticVariation UNIPROT Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. 9892956 1998
dbSNP: rs1422797135
rs1422797135
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.700 GeneticVariation UNIPROT Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. 9546354 1998