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: rs121912461
rs121912461
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.810 GeneticVariation UNIPROT Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. 11328943 2001
dbSNP: rs121912461
rs121912461
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.810 GeneticVariation UNIPROT Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. 11251584 2001
dbSNP: rs121912461
rs121912461
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.810 GeneticVariation UNIPROT Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. 10873890 2000
dbSNP: rs121912461
rs121912461
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.810 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: rs121912461
rs121912461
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.810 GeneticVariation UNIPROT Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. 9792864 1998
dbSNP: rs121912461
rs121912461
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.810 GeneticVariation UNIPROT Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). 9422533 1998
dbSNP: rs121912461
rs121912461
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.810 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: rs121912461
rs121912461
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.810 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: rs121912461
rs121912461
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		C 0.810 CausalMutation CLINVAR
dbSNP: rs121912463
rs121912463
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. 11251584 2001
dbSNP: rs121912463
rs121912463
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. 11328943 2001
dbSNP: rs121912465
rs121912465
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. 11251584 2001
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 congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. 11328943 2001
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 Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. 11251584 2001
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 congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. 11328943 2001
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 congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. 11328943 2001
dbSNP: rs121912468
rs121912468
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. 11251584 2001
dbSNP: rs80338755
rs80338755
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. 11251584 2001
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 congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. 11328943 2001
dbSNP: rs121912463
rs121912463
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. 10873890 2000
dbSNP: rs121912465
rs121912465
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. 10873890 2000
dbSNP: rs121912466
rs121912466
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.800 GeneticVariation UNIPROT A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? 10792571 2000
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 Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. 10873890 2000
dbSNP: rs121912468
rs121912468
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. 10873890 2000
dbSNP: rs80338755
rs80338755
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. 10873890 2000