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: rs761805324
rs761805324
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1555642784
rs1555642784
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0740279
Disease:
Cerebellar atrophy 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1555642784
rs1555642784
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1842364
Disease:
Central hypotonia 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1555642784
rs1555642784
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4225386
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1555642784
rs1555642784
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0003886
Disease:
Arthrogryposis 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1555642784
rs1555642784
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0235946
Disease:
Cerebral atrophy 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1567969825
rs1567969825
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567973088
rs1567973088
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1567973091
rs1567973091
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0220662
Disease:
ARTHROGRYPOSIS, DISTAL, TYPE 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs746361190
rs746361190
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0026847
Disease:
Spinal Muscular Atrophy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs746361190
rs746361190
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0026848
Disease:
Myopathy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs746361190
rs746361190
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4225386
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs746361190
rs746361190
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0699743
Disease:
Congenital muscular dystrophy (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs751050956
rs751050956
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4225386
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		C 0.700 CausalMutation CLINVAR
dbSNP: rs756896276
rs756896276
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs768554986
rs768554986
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		C 0.700 CausalMutation CLINVAR
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