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 		C 0.810 CausalMutation CLINVAR
dbSNP: rs121912463
rs121912463
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121912465
rs121912465
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121912466
rs121912466
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121912467
rs121912467
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912468
rs121912468
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80338755
rs80338755
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121912462
rs121912462
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		T 0.710 CausalMutation CLINVAR
dbSNP: rs1026685248
rs1026685248
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C0268155
Disease:
Deficiency of galactokinase 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs121912464
rs121912464
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs147222357
rs147222357
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1476568580
rs1476568580
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.700 GeneticVariation UNIPROT
dbSNP: rs375690568
rs375690568
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C0268155
Disease:
Deficiency of galactokinase 		0.700 GeneticVariation UNIPROT
dbSNP: rs758551913
rs758551913
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C0432317
Disease:
Epidermolysis bullosa simplex, Ogna type 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs772142634
rs772142634
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs794726676
rs794726676
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs80338755
rs80338755
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C0432317
Disease:
Epidermolysis bullosa simplex, Ogna type 		A 0.700 CausalMutation CLINVAR
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: rs121912463
rs121912463
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: rs121912463
rs121912463
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: rs121912463
rs121912463
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