CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 CausalMutation disease CLINVAR
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.600 CausalMutation disease CLINVAR
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 CausalMutation disease CLINVAR
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 CausalMutation disease CLINVAR
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		0.100 CausalMutation disease CLINVAR
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 CausalMutation disease CLINVAR
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 AlteredExpression disease BEFREE One hundred and forty-three patients with p210 BCR-ABL-positive leukemia were studied for coexpression of p190 BCR-ABL mRNA. p190 mRNA was detected in 14 of 16 (88%) patients with chronic-phase chronic myeloid leukemia (CML) at diagnosis, in 10 of 10 (100%) CML patients in blast crisis, in 75 of 107 (70%) CML patients receiving interferon-alpha (IFN-alpha), and 10 of 10 (100%) patients with p210 BCR-ABL-positive acute lymphoblastic leukemia (ALL). 8652835 1996
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 AlteredExpression disease BEFREE This observation also confirmed that, as in de novo Ph1-positive ALL, both the P190 and P210 varieties of BCR-ABL mRNA are observed in ALL with late-appearing Ph1. 7564511 1995
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 AlteredExpression disease BEFREE In this communication we describe an unusual patient with typical chronic phase Ph positive CML and evidence of the uncharacteristic mbcr1 breakpoint, predicting expression of the ALL-type p190 fusion protein. 8756076 1996
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 AlteredExpression disease BEFREE Furthermore, p190 BCR-ABL mRNA was detected in the ALL blasts. 8639433 1996
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.100 AlteredExpression disease BEFREE Leukemic cells from patients with CML express the p210 form of the bcr-abl oncogene, whereas in adult Ph+ ALL approximately 50% of cases express the p190 form of the bcr-abl oncogene, and the other 50% express the same p210 gene as is found in CML. 9360779 1997
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.100 AlteredExpression disease BEFREE We performed RT-PCR on samples from CML patients in chronic phase to determine the frequency and mechanism of p190 and p210 co-expression and to see if this correlated with clinical indices. 9858221 1998
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.100 AlteredExpression disease BEFREE We report two cases of pediatric patients with a diagnosis of CML who presented co-expression of the p210 and p190 transcripts during progression to the blastic phase. 18495245 2009
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		0.080 AlteredExpression disease BEFREE We designed a new semi-quantitative competitor-based PCR assay to assess the amount of p190 BCR-ABL mRNA in patients with Ph-positive ALL. 7869772 1995
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		0.080 AlteredExpression disease BEFREE Multiplex in-cell reverse transcription-polymerase chain reaction for the simultaneous detection of p210 and p190 BCR-ABL mRNAs in chronic myeloid leukemia and Philadelphia-positive acute lymphoblastic leukemia cell lines. 11097354 2000
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.070 AlteredExpression disease BEFREE This observation also confirmed that, as in de novo Ph1-positive ALL, both the P190 and P210 varieties of BCR-ABL mRNA are observed in ALL with late-appearing Ph1. 7564511 1995
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.070 AlteredExpression disease BEFREE In this communication we describe an unusual patient with typical chronic phase Ph positive CML and evidence of the uncharacteristic mbcr1 breakpoint, predicting expression of the ALL-type p190 fusion protein. 8756076 1996
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.070 AlteredExpression disease BEFREE One hundred and forty-three patients with p210 BCR-ABL-positive leukemia were studied for coexpression of p190 BCR-ABL mRNA. p190 mRNA was detected in 14 of 16 (88%) patients with chronic-phase chronic myeloid leukemia (CML) at diagnosis, in 10 of 10 (100%) CML patients in blast crisis, in 75 of 107 (70%) CML patients receiving interferon-alpha (IFN-alpha), and 10 of 10 (100%) patients with p210 BCR-ABL-positive acute lymphoblastic leukemia (ALL). 8652835 1996
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.070 AlteredExpression disease BEFREE In this communication we describe an unusual patient with typical chronic phase Ph positive CML and evidence of the uncharacteristic mbcr1 breakpoint, predicting expression of the ALL-type p190 fusion protein. 8756076 1996
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.070 AlteredExpression disease BEFREE One hundred and forty-three patients with p210 BCR-ABL-positive leukemia were studied for coexpression of p190 BCR-ABL mRNA. p190 mRNA was detected in 14 of 16 (88%) patients with chronic-phase chronic myeloid leukemia (CML) at diagnosis, in 10 of 10 (100%) CML patients in blast crisis, in 75 of 107 (70%) CML patients receiving interferon-alpha (IFN-alpha), and 10 of 10 (100%) patients with p210 BCR-ABL-positive acute lymphoblastic leukemia (ALL). 8652835 1996
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.070 AlteredExpression disease BEFREE This observation also confirmed that, as in de novo Ph1-positive ALL, both the P190 and P210 varieties of BCR-ABL mRNA are observed in ALL with late-appearing Ph1. 7564511 1995
CUI: C0023418
Disease: leukemia
leukemia 		0.060 AlteredExpression disease BEFREE We conclude that pl90 BCR-ABL transcripts are frequently present at a low level in p210 BCR-ABL-positive leukemias. p190 mRNA may arise through alternative or missplicing and its presence is probably of no pathogenetic significance. 8652835 1996
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.050 AlteredExpression disease BEFREE The atypical p190 e6a2 transcript seems to be associated in AML with aggressive disease. 30630459 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.030 AlteredExpression disease BEFREE Investigation of the breakpoint on 22 in case 1 with Southern blotting and the polymerase chain reaction demonstrated the presence of a p190 mRNA and a breakpoint typical of acute leukemia. 1728947 1992