CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754944509
rs754944509
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1332977
Disease:
Childhood Leukemia 		0.010 GeneticVariation BEFREE Thus, the aim of this study was to investigate the effects of Shb knockout on the development of leukemia in three additional models, that is, colony stimulating factor 3 receptor-T618I-induced neutrophilic leukemia, p190 Breakpoint cluster region-cAbl oncogene 1 tyrosine kinase-induced B-cell leukemia, and G12D-Kras-induced T-cell leukemia/thymic lymphoma. 29792386 2018
dbSNP: rs754944509
rs754944509
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0474856
Disease:
Neutrophilic Leukemia 		0.010 GeneticVariation BEFREE Thus, the aim of this study was to investigate the effects of Shb knockout on the development of leukemia in three additional models, that is, colony stimulating factor 3 receptor-T618I-induced neutrophilic leukemia, p190 Breakpoint cluster region-cAbl oncogene 1 tyrosine kinase-induced B-cell leukemia, and G12D-Kras-induced T-cell leukemia/thymic lymphoma. 29792386 2018
dbSNP: rs754944509
rs754944509
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0023481
Disease:
Chronic Neutrophilic Leukemia 		0.010 GeneticVariation BEFREE Thus, the aim of this study was to investigate the effects of Shb knockout on the development of leukemia in three additional models, that is, colony stimulating factor 3 receptor-T618I-induced neutrophilic leukemia, p190 Breakpoint cluster region-cAbl oncogene 1 tyrosine kinase-induced B-cell leukemia, and G12D-Kras-induced T-cell leukemia/thymic lymphoma. 29792386 2018
dbSNP: rs754944509
rs754944509
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0023418
Disease:
leukemia 		0.010 GeneticVariation BEFREE Thus, the aim of this study was to investigate the effects of Shb knockout on the development of leukemia in three additional models, that is, colony stimulating factor 3 receptor-T618I-induced neutrophilic leukemia, p190 Breakpoint cluster region-cAbl oncogene 1 tyrosine kinase-induced B-cell leukemia, and G12D-Kras-induced T-cell leukemia/thymic lymphoma. 29792386 2018
dbSNP: rs142029931
rs142029931
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1269683
Disease:
Major Depressive Disorder 		0.700 GeneticVariation GWASCAT The PHF21B gene is associated with major depression and modulates the stress response. 27777418 2017
dbSNP: rs72826962
rs72826962
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0678222
Disease:
Breast Carcinoma 		T 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs768554986
rs768554986
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4225386
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 GeneticVariation UNIPROT Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. 27782105 2017
dbSNP: rs768554986
rs768554986
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4225386
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 GeneticVariation UNIPROT CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. 28374019 2017
dbSNP: rs768554986
rs768554986
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4225386
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 GeneticVariation UNIPROT Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. 28254648 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0239676
Disease:
High forehead 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4281993
Disease:
Neonatal respiratory distress 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4022735
Disease:
Cerebral white matter atrophy 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1856660
Disease:
Abnormality of the helix 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1865119
Disease:
Progressive ventriculomegaly 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C2267233
Disease:
Neonatal Hypotonia 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4024927
Disease:
Peripheral hypomyelination 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0431370
Disease:
Atrophy of corpus callosum 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1837404
Disease:
High, narrow palate 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1861324
Disease:
Short philtrum 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0042798
Disease:
Low Vision 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1840077
Disease:
Anteverted nostril 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1843156
Disease:
Progressive sensorineural hearing impairment 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1837142
Disease:
Poor suck 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1857640
Disease:
Decreased nerve conduction velocity 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4551583
Disease:
Cerebral cortical atrophy 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017