ITGA3, integrin subunit alpha 3, 3675

N. diseases: 111; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140781106
rs140781106
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C3553636
Disease:
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
0.800 GeneticVariation UNIPROT
dbSNP: rs140781106
rs140781106
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C3553636
Disease:
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
C 0.800 CausalMutation CLINVAR
dbSNP: rs540704248
rs540704248
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C3553636
Disease:
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
G 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs745505565
rs745505565
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C3553636
Disease:
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
0.700 GeneticVariation UNIPROT Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations. 27717396 2016
dbSNP: rs797045048
rs797045048
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C3553636
Disease:
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
A 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs745505565
rs745505565
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C3553636
Disease:
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
0.700 GeneticVariation UNIPROT Integrin α3 mutations with kidney, lung, and skin disease. 22512483 2012
dbSNP: rs4793636
rs4793636
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0027404
Disease:
Narcolepsy
0.700 GeneticVariation GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
dbSNP: rs1567701091
rs1567701091
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C3553636
Disease:
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
A 0.700 CausalMutation CLINVAR
dbSNP: rs797044989
rs797044989
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C3553636
Disease:
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
T 0.700 CausalMutation CLINVAR
dbSNP: rs2269772
rs2269772
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C2939419
Disease:
Secondary Neoplasm
0.020 GeneticVariation BEFREE Our results seem to indicate that combining information from genotyping of rs699947 (VEGFA, AC), rs2269772 (ITGA, AA) and tumour histology could allow clinicians to individuate gastric cancer at high risk for recurrence either with peritoneal or hematogenous metastases. 22808003 2012
dbSNP: rs2269772
rs2269772
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0027627
Disease:
Neoplasm Metastasis
0.020 GeneticVariation BEFREE Our results seem to indicate that combining information from genotyping of rs699947 (VEGFA, AC), rs2269772 (ITGA, AA) and tumour histology could allow clinicians to individuate gastric cancer at high risk for recurrence either with peritoneal or hematogenous metastases. 22808003 2012
dbSNP: rs2269772
rs2269772
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE Our results seem to indicate that combining information from genotyping of rs699947 (VEGFA, AC), rs2269772 (ITGA, AA) and tumour histology could allow clinicians to individuate gastric cancer at high risk for recurrence either with peritoneal or hematogenous metastases. 22808003 2012
dbSNP: rs2269772
rs2269772
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C2939419
Disease:
Secondary Neoplasm
0.020 GeneticVariation BEFREE The following factors resulted independently associated with peritoneal carcinosis or hematogenous metastases: the A genotype of rs2269772 (ITGA3) [odds ratio (OR) for peritoneal carcinosis: 22.2, 95% confidence interval 1.2-40, P=0.03], the G genotype of rs2269772 (ITGA3) (OR for hematogenous metastases: 5.5, 95% confidence interval 2.2-14.15, P=0.0003), the C genotype of rs11902171 (ITGV) (OR for peritoneal carcinosis: 6.8, 95% confidence interval 1.3-33.4, P=0.01), the G genotype of rs11902171 (ITGV) (OR for hematogenous metastases: 2.5, 95% confidence interval 1.1-5.7, P = 0.02), diffuse histology (OR for peritoneal carcinosis: 4.7, 95% confidence interval 1.9-11.3, P=0.0005) and intestinal histology (OR for hematogenous metastases: 4.2, 95% confidence interval 1.9-9.9, P=0.0008). 20926544 2011
dbSNP: rs2269772
rs2269772
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0027627
Disease:
Neoplasm Metastasis
0.020 GeneticVariation BEFREE The following factors resulted independently associated with peritoneal carcinosis or hematogenous metastases: the A genotype of rs2269772 (ITGA3) [odds ratio (OR) for peritoneal carcinosis: 22.2, 95% confidence interval 1.2-40, P=0.03], the G genotype of rs2269772 (ITGA3) (OR for hematogenous metastases: 5.5, 95% confidence interval 2.2-14.15, P=0.0003), the C genotype of rs11902171 (ITGV) (OR for peritoneal carcinosis: 6.8, 95% confidence interval 1.3-33.4, P=0.01), the G genotype of rs11902171 (ITGV) (OR for hematogenous metastases: 2.5, 95% confidence interval 1.1-5.7, P = 0.02), diffuse histology (OR for peritoneal carcinosis: 4.7, 95% confidence interval 1.9-11.3, P=0.0005) and intestinal histology (OR for hematogenous metastases: 4.2, 95% confidence interval 1.9-9.9, P=0.0008). 20926544 2011
dbSNP: rs2269772
rs2269772
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE Tumor histology represents a crucial issue conditioning tumoral behavior; genotyping of rs2269772 (ITGA3) and rs11902171 (ITGV) may be a further asset in the definition of high-risk patients for peritoneal carcinosis among those relapsing after curative resection. 20926544 2011
dbSNP: rs16948627
rs16948627
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.010 GeneticVariation BEFREE Then, associations of the SNP (rs2230392, rs2285524 and rs16948627) genotypes with the incidence risk and tumor characteristics of osteosarcoma were evaluated. 24381140 2014
dbSNP: rs16948627
rs16948627
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0029463
Disease:
Osteosarcoma
0.010 GeneticVariation BEFREE Then, associations of the SNP (rs2230392, rs2285524 and rs16948627) genotypes with the incidence risk and tumor characteristics of osteosarcoma were evaluated. 24381140 2014
dbSNP: rs16948627
rs16948627
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Then, associations of the SNP (rs2230392, rs2285524 and rs16948627) genotypes with the incidence risk and tumor characteristics of osteosarcoma were evaluated. 24381140 2014
dbSNP: rs16948627
rs16948627
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE Then, associations of the SNP (rs2230392, rs2285524 and rs16948627) genotypes with the incidence risk and tumor characteristics of osteosarcoma were evaluated. 24381140 2014
dbSNP: rs2230392
rs2230392
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Then, associations of the SNP (rs2230392, rs2285524 and rs16948627) genotypes with the incidence risk and tumor characteristics of osteosarcoma were evaluated. 24381140 2014
dbSNP: rs2230392
rs2230392
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0029463
Disease:
Osteosarcoma
0.010 GeneticVariation BEFREE Polymorphisms of ITGA3 gene rs2230392 may affect the incidence, metastasis and survival of osteosarcoma, which may clinically become a new target for predicting the risk of osteosarcoma, and have prognostic value. 24381140 2014
dbSNP: rs2230392
rs2230392
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.010 GeneticVariation BEFREE Polymorphisms of ITGA3 gene rs2230392 may affect the incidence, metastasis and survival of osteosarcoma, which may clinically become a new target for predicting the risk of osteosarcoma, and have prognostic value. 24381140 2014
dbSNP: rs2230392
rs2230392
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE Polymorphisms of ITGA3 gene rs2230392 may affect the incidence, metastasis and survival of osteosarcoma, which may clinically become a new target for predicting the risk of osteosarcoma, and have prognostic value. 24381140 2014
dbSNP: rs2285524
rs2285524
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Then, associations of the SNP (rs2230392, rs2285524 and rs16948627) genotypes with the incidence risk and tumor characteristics of osteosarcoma were evaluated. 24381140 2014
dbSNP: rs2285524
rs2285524
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE Then, associations of the SNP (rs2230392, rs2285524 and rs16948627) genotypes with the incidence risk and tumor characteristics of osteosarcoma were evaluated. 24381140 2014