Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4551570
Disease:
2-3 toe syndactyly
A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1210484348
rs1210484348
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0000744
Disease:
Abetalipoproteinemia
0.010 GeneticVariation BEFREE Three ABL (Abelson) kinase inhibitors prevented cell proliferation of HUVEC-TIE2-L914F. 30626204 2019
dbSNP: rs1060499547
rs1060499547
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4023165
Disease:
Abnormality of skeletal morphology
G 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4023165
Disease:
Abnormality of skeletal morphology
A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs121913459
rs121913459
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1855472
Disease:
Acute lymphoblastic leukemia with lymphomatous features
T 0.700 GeneticVariation CLINVAR MK-0457, an Aurora kinase and BCR-ABL inhibitor, is active in patients with BCR-ABL T315I leukemia. 22772060 2013
dbSNP: rs121913459
rs121913459
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1855472
Disease:
Acute lymphoblastic leukemia with lymphomatous features
T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913459
rs121913459
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1855472
Disease:
Acute lymphoblastic leukemia with lymphomatous features
T 0.700 GeneticVariation CLINVAR Ph(+) acute lymphoblastic leukemia resistant to the tyrosine kinase inhibitor STI571 has a unique BCR-ABL gene mutation. 11861307 2002
dbSNP: rs121913461
rs121913461
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1855472
Disease:
Acute lymphoblastic leukemia with lymphomatous features
C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913461
rs121913461
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1855472
Disease:
Acute lymphoblastic leukemia with lymphomatous features
C 0.700 GeneticVariation CLINVAR BCR-ABL gene mutations in relation to clinical resistance of Philadelphia-chromosome-positive leukaemia to STI571: a prospective study. 11853795 2002
dbSNP: rs121913461
rs121913461
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1855472
Disease:
Acute lymphoblastic leukemia with lymphomatous features
C 0.700 GeneticVariation CLINVAR Kinase domain point mutations in Philadelphia chromosome-positive acute lymphoblastic leukemia emerge after therapy with BCR-ABL kinase inhibitors. 18615627 2008
dbSNP: rs121913459
rs121913459
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.050 GeneticVariation BEFREE The BCR-ABL T315I kinase domain mutation is insensitive to dasatinib therapy for Philadelphia-positive acute lymphoid leukemia (Ph + ALL) patients. 22587422 2012
dbSNP: rs121913459
rs121913459
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.050 GeneticVariation BEFREE Three patients with T315I abl-mutated chronic myeloid leukemia (CML) or Philadelphia chromosome (Ph)-positive acute lymphocytic leukemia (ALL) have achieved clinical responses to doses of MK-04547 that are not associated with adverse events. 16990603 2007
dbSNP: rs121913459
rs121913459
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.050 GeneticVariation BEFREE This cell line may provide a useful model for in vitro and in vivo cellular and molecular studies of BCR-ABL-positive ALL with T315I mutation. 20471447 2010
dbSNP: rs121913459
rs121913459
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.050 GeneticVariation BEFREE The objectives of this retrospective observational study were to estimate overall and progression-free survival for chronic myeloid leukemia in chronic-phase (CP), accelerated-phase (AP), or blastic-phase (BP) and Philadelphia chromosome-positive (Ph)(+) acute lymphoblastic leukemia (ALL) patients with T315I mutation. 19843886 2009
dbSNP: rs121913459
rs121913459
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.050 GeneticVariation BEFREE It suppressed primary Ph+ acute lymphatic leukemia-derived long-term cultures that either displayed nonmutational resistance or harbor the T315I. 25394714 2015
dbSNP: rs1057519773
rs1057519773
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE At the first relapse, an examination of the bone marrow revealed a transformation into acute lymphoblastic leukemia and an F317L mutation in BCR-ABL1 gene, which responded preferentially to nilotinib over dasatinib. 24532437 2014
dbSNP: rs121913448
rs121913448
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE The Ph (+) ALL patient had a Glu255Lys mutation in exon 5 and a Thr315Ile mutation in exon 7. 18603297 2008
dbSNP: rs121913451
rs121913451
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE At the first relapse, an examination of the bone marrow revealed a transformation into acute lymphoblastic leukemia and an F317L mutation in BCR-ABL1 gene, which responded preferentially to nilotinib over dasatinib. 24532437 2014
dbSNP: rs387906517
rs387906517
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE The Ph (+) ALL patient had a Glu255Lys mutation in exon 5 and a Thr315Ile mutation in exon 7. 18603297 2008
dbSNP: rs4740363
rs4740363
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0279628
Disease:
Adenocarcinoma Of Esophagus
0.010 GeneticVariation BEFREE Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). 21472143 2011
dbSNP: rs121913459
rs121913459
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia
0.020 GeneticVariation BEFREE This cell line may provide a useful model for in vitro and in vivo cellular and molecular studies of BCR-ABL-positive ALL with T315I mutation. 20471447 2010
dbSNP: rs121913459
rs121913459
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia
0.020 GeneticVariation BEFREE The objectives of this retrospective observational study were to estimate overall and progression-free survival for chronic myeloid leukemia in chronic-phase (CP), accelerated-phase (AP), or blastic-phase (BP) and Philadelphia chromosome-positive (Ph)(+) acute lymphoblastic leukemia (ALL) patients with T315I mutation. 19843886 2009
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0003466
Disease:
Anus, Imperforate
A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0018817
Disease:
Atrial Septal Defects
A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs121913459
rs121913459
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1709527
Disease:
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
0.100 GeneticVariation BEFREE Eight of 18 patients with BCR-ABL T315I-mutated chronic myelogenous leukemia (44%) had hematologic responses and one of three patients (33%) with Philadelphia chromosome-positive acute lymphoblastic leukemia obtained complete remission. 22772060 2013