TGFB1, transforming growth factor beta 1, 7040

N. diseases: 1558; N. variants: 50
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894721
rs104894721
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome
A 0.740 CausalMutation CLINVAR
dbSNP: rs104894719
rs104894719
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome
G 0.710 CausalMutation CLINVAR
dbSNP: rs200482214
rs200482214
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome
A 0.710 CausalMutation CLINVAR
dbSNP: rs281865484
rs281865484
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome
T 0.710 CausalMutation CLINVAR
dbSNP: rs104894720
rs104894720
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs104894722
rs104894722
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs104894722
rs104894722
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs104894722
rs104894722
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs111033611
rs111033611
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs1336387628
rs1336387628
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C4748708
Disease:
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
G 0.700 CausalMutation CLINVAR
dbSNP: rs1336387628
rs1336387628
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C1963101
Disease:
Encephalopathy, CTCAE 3.0
G 0.700 CausalMutation CLINVAR
dbSNP: rs1487082103
rs1487082103
Entrez Id: 7040;80776
Gene Symbol: TGFB1;B9D2
TGFB1;B9D2
CUI: C3280036
Disease:
MECKEL SYNDROME, TYPE 10
0.700 GeneticVariation UNIPROT
dbSNP: rs1555755242
rs1555755242
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C4748708
Disease:
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555755242
rs1555755242
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C1963101
Disease:
Encephalopathy, CTCAE 3.0
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555755308
rs1555755308
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C4748708
Disease:
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555755308
rs1555755308
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C1963101
Disease:
Encephalopathy, CTCAE 3.0
A 0.700 CausalMutation CLINVAR
dbSNP: rs281865483
rs281865483
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome
TAGCAGCAGC 0.700 CausalMutation CLINVAR
dbSNP: rs281865485
rs281865485
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs863225150
rs863225150
Entrez Id: 7040;80776
Gene Symbol: TGFB1;B9D2
TGFB1;B9D2
CUI: C3280036
Disease:
MECKEL SYNDROME, TYPE 10
0.700 GeneticVariation UNIPROT
dbSNP: rs1800470
rs1800470
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0029456
Disease:
Osteoporosis
0.050 GeneticVariation BEFREE We have shown that a T(869)-->C polymorphism of the transforming growth factor-beta1 (TGF-beta1) gene, which results in a Leu-->Pro substitution at amino acid 10, is associated with bone mineral density in Japanese adolescents and postmenopausal women, with genetic susceptibility to osteoporosis or spinal osteoarthritis, and with the outcome of treatment for osteoporosis with active vitamin D. I here review our recent studies, which have provided insight into the function of TGF-beta1 as well as into the role of genetic factors in the development of osteoporosis and osteoarthritis. 10996011 2000
dbSNP: rs1800470
rs1800470
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0029408
Disease:
Degenerative polyarthritis
0.020 GeneticVariation BEFREE We have shown that a T(869)-->C polymorphism of the transforming growth factor-beta1 (TGF-beta1) gene, which results in a Leu-->Pro substitution at amino acid 10, is associated with bone mineral density in Japanese adolescents and postmenopausal women, with genetic susceptibility to osteoporosis or spinal osteoarthritis, and with the outcome of treatment for osteoporosis with active vitamin D. I here review our recent studies, which have provided insight into the function of TGF-beta1 as well as into the role of genetic factors in the development of osteoporosis and osteoarthritis. 10996011 2000
dbSNP: rs1800470
rs1800470
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C2350242
Disease:
Osteoarthritis, Spine
0.010 GeneticVariation BEFREE We have shown that a T(869)-->C polymorphism of the transforming growth factor-beta1 (TGF-beta1) gene, which results in a Leu-->Pro substitution at amino acid 10, is associated with bone mineral density in Japanese adolescents and postmenopausal women, with genetic susceptibility to osteoporosis or spinal osteoarthritis, and with the outcome of treatment for osteoporosis with active vitamin D. I here review our recent studies, which have provided insight into the function of TGF-beta1 as well as into the role of genetic factors in the development of osteoporosis and osteoarthritis. 10996011 2000
dbSNP: rs1800470
rs1800470
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0949690
Disease:
Spondylarthritis
0.010 GeneticVariation BEFREE We have shown that a T(869)-->C polymorphism of the transforming growth factor-beta1 (TGF-beta1) gene, which results in a Leu-->Pro substitution at amino acid 10, is associated with bone mineral density in Japanese adolescents and postmenopausal women, with genetic susceptibility to osteoporosis or spinal osteoarthritis, and with the outcome of treatment for osteoporosis with active vitamin D. I here review our recent studies, which have provided insight into the function of TGF-beta1 as well as into the role of genetic factors in the development of osteoporosis and osteoarthritis. 10996011 2000
dbSNP: rs1800471
rs1800471
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C1565489
Disease:
Renal Insufficiency
0.020 GeneticVariation BEFREE To determine whether genetic factors are involved in the development of renal dysfunction due to cyclosporine nephrotoxicity, we analyzed 2 polymorphisms in the signal sequence of the transforming growth factor (TGF)-beta 1 gene; codon 10 (Leu(10) --> Pro) and codon 25 (Arg(25) --> Pro). 11008076 2000
dbSNP: rs1800470
rs1800470
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C1565489
Disease:
Renal Insufficiency
0.010 GeneticVariation BEFREE To determine whether genetic factors are involved in the development of renal dysfunction due to cyclosporine nephrotoxicity, we analyzed 2 polymorphisms in the signal sequence of the transforming growth factor (TGF)-beta 1 gene; codon 10 (Leu(10) --> Pro) and codon 25 (Arg(25) --> Pro). 11008076 2000